imported from
type: AnnotationProperty

definition
type: AnnotationProperty
definition: The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
definition: The official OBI definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.

database_cross_reference
type: AnnotationProperty

has_related_synonym
type: AnnotationProperty

has narrower match
type: AnnotationProperty
definition: A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad.

id
type: AnnotationProperty

has exact match
type: AnnotationProperty
definition: A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably.

has_obo_namespace
type: AnnotationProperty
comment: disease_ontology

has_exact_synonym
type: AnnotationProperty

created_by
type: AnnotationProperty

creation_date
type: AnnotationProperty

has_alternative_id
type: AnnotationProperty

has_narrow_synonym
type: AnnotationProperty

label
type: AnnotationProperty

in_subset
type: AnnotationProperty

IEDB alternative term
type: AnnotationProperty
definition: An alternative term used by the IEDB.

disease of metabolism
type: Class
subclass of: disease
definition: A disease that involving errors in metabolic processes of building or degradation of molecules.
database_cross_reference: MESH:D008659
database_cross_reference: NCI:C3235
database_cross_reference: ICD10CM:E88.9
id: DOID:0014667
database_cross_reference: ICD9CM:277.9
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0025517
database_cross_reference: SNOMEDCT_US_2020_03_01:75934005
has_exact_synonym: metabolic disease
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: NCIthesaurus
imported from: doid.owl

chikungunya
type: Class
subclass of: viral infectious disease
id: DOID:0050012
definition: A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash.
has_obo_namespace: disease_ontology
has_exact_synonym: Chikungunya fever
database_cross_reference: GARD:6038
in_subset: zoonotic infectious disease
imported from: doid.owl

carbohydrate metabolism disease
type: Class
subclass of: acquired metabolic disease
definition: An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
id: DOID:0050013
has_obo_namespace: disease_ontology
in_subset: DO FlyBase slim
imported from: doid.owl

human granulocytic anaplasmosis
type: Class
subclass of: ehrlichiosis
has_obo_namespace: disease_ontology
has_alternative_id: DOID:0050021
has_alternative_id: DOID:0050022
definition: An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone start tick (Amblyomma americanum ). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.
id: DOID:0050025
has_related_synonym: HGE
has_exact_synonym: human granulocytic ehrlichiosis
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
imported from: doid.owl

human monocytic ehrlichiosis
type: Class
subclass of: ehrlichiosis
id: DOID:0050026
definition: An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.
has_obo_namespace: disease_ontology
has_related_synonym: Ehrlichiosis chafeensis
database_cross_reference: GARD:72
has_alternative_id: DOID:14091
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
imported from: doid.owl

mineral metabolism disease
type: Class
subclass of: acquired metabolic disease
id: DOID:0050032
has_obo_namespace: disease_ontology
definition: An acquired metabolic disease that is characterized by abnormal mineral metabolism.
imported from: doid.owl

African tick-bite fever
type: Class
subclass of: spotted fever
has_obo_namespace: disease_ontology
has_alternative_id: DOID:0050036
id: DOID:0050035
definition: A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
has_alternative_id: DOID:0050034
has_exact_synonym: Rickettsia africae spotted fever
has_exact_synonym: south african tick-bite fever
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

Far Eastern spotted fever
type: Class
subclass of: spotted fever
id: DOID:0050046
has_exact_synonym: Rickettsia heilongjiangensis spotted fever
has_obo_namespace: disease_ontology
definition: A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

Japanese spotted fever
type: Class
subclass of: spotted fever
has_alternative_id: DOID:0050049
id: DOID:0050050
definition: A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
has_exact_synonym: Rickettsia japonica spotted fever
has_obo_namespace: disease_ontology
has_exact_synonym: oriental spotted fever
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

erysipeloid
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: MESH:D004887
definition: A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin.
has_obo_namespace: disease_ontology
id: DOID:0050061
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

adiaspiromycosis
type: Class
subclass of: primary systemic mycosis
subclass of: skin disease
subclass of: lung disease
definition: A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.
has_obo_namespace: disease_ontology
id: DOID:0050072
imported from: doid.owl

invasive aspergillosis
type: Class
subclass of: aspergillosis
subclass of: lung disease
id: DOID:0050073
has_obo_namespace: disease_ontology
definition: An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
imported from: doid.owl

Keshan disease
type: Class
subclass of: nutritional deficiency disease
definition: A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.
id: DOID:0050083
database_cross_reference: GARD:8761
has_obo_namespace: disease_ontology
imported from: doid.owl

disease by infectious agent
type: Class
subclass of: disease
database_cross_reference: ICD9CM:079.0
has_alternative_id: DOID:2040
has_alternative_id: DOID:3099
has_alternative_id: DOID:2288
has_obo_namespace: disease_ontology
id: DOID:0050117
has_alternative_id: DOID:10115
IEDB alternative term: infectious disease
has_alternative_id: DOID:4620
has_alternative_id: DOID:5256
has_alternative_id: DOID:9532
has_alternative_id: DOID:9696
has_alternative_id: DOID:4120
database_cross_reference: UMLS_CUI:C0001485
comment: DO:wk
definition: A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.
has_alternative_id: DOID:945
has_alternative_id: DOID:1321
has_alternative_id: DOID:95
has_alternative_id: DOID:11078
has_alternative_id: DOID:1304
has_exact_synonym: infectious disease
in_subset: DO GXD slim
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

La Crosse encephalitis
type: Class
subclass of: viral infectious disease
subclass of: brain disease
database_cross_reference: SNOMEDCT_US_2020_03_01:69627004
database_cross_reference: MESH:D004670
database_cross_reference: ICD9CM:062.5
database_cross_reference: UMLS_CUI:C0014053
id: DOID:0050118
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
has_exact_synonym: California virus encephalitis
database_cross_reference: ICD10CM:A83.5
has_exact_synonym: Neuroinvasive California encephalitis virus infection
has_obo_namespace: disease_ontology
has_exact_synonym: California Encephalitis
has_alternative_id: DOID:10840
in_subset: zoonotic infectious disease
imported from: doid.owl

hemophagocytic lymphohistiocytosis
type: Class
subclass of: lymphatic system disease
database_cross_reference: ORDO:540
database_cross_reference: ICD10CM:D76.1
database_cross_reference: MESH:D051359
definition: A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
database_cross_reference: OMIM:PS267700
id: DOID:0050120
has_obo_namespace: disease_ontology
has_alternative_id: DOID:6453
database_cross_reference: NCI:C34792
database_cross_reference: SNOMEDCT_US_2020_03_01:190958003
comment: Xref MGI. MESH:C537250 added from NeuroDevNet [WAK].
database_cross_reference: GARD:6589
database_cross_reference: UMLS_CUI:C0024291
has_exact_synonym: haemophagocytic syndrome
in_subset: NCIthesaurus
imported from: doid.owl

sinusitis
type: Class
subclass of: paranasal sinus disease
database_cross_reference: ICD10CM:J01
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0149512
has_alternative_id: DOID:2052
database_cross_reference: ICD9CM:461
has_alternative_id: DOID:9564
database_cross_reference: SNOMEDCT_US_2020_03_01:195649005
database_cross_reference: NCI:C128411
definition: A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
id: DOID:0050127
in_subset: NCIthesaurus
imported from: doid.owl

secretory diarrhea
type: Class
subclass of: diarrhea
definition: Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions.
has_obo_namespace: disease_ontology
id: DOID:0050129
imported from: doid.owl

superficial mycosis
type: Class
subclass of: fungal infectious disease
has_alternative_id: DOID:13370
database_cross_reference: UMLS_CUI:C0031898
has_obo_namespace: disease_ontology
id: DOID:0050133
definition: A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host.
comment: Adding a UMLS CUI for piedra C2980104.
database_cross_reference: SNOMEDCT_US_2020_03_01:266218008
database_cross_reference: MESH:D010854
database_cross_reference: UMLS_CUI:C2980104
database_cross_reference: ICD10CM:B36.9
database_cross_reference: SNOMEDCT_US_2020_03_01:47382004
has_exact_synonym: Steroid-modified tinea infection
has_exact_synonym: piedra
imported from: doid.owl

cutaneous mycosis
type: Class
subclass of: fungal infectious disease
id: DOID:0050134
definition: A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions.
has_obo_namespace: disease_ontology
imported from: doid.owl

subcutaneous mycosis
type: Class
subclass of: fungal infectious disease
subclass of: skin disease
has_obo_namespace: disease_ontology
id: DOID:0050135
definition: A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma.
imported from: doid.owl

systemic mycosis
type: Class
subclass of: fungal infectious disease
has_obo_namespace: disease_ontology
definition: A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs.
id: DOID:0050136
imported from: doid.owl

acute diarrhea
type: Class
subclass of: diarrhea
has_obo_namespace: disease_ontology
definition: A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.
id: DOID:0050140
imported from: doid.owl

intestinal botulism
type: Class
subclass of: botulism
id: DOID:0050141
has_obo_namespace: disease_ontology
definition: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins.
imported from: doid.owl

adenoiditis
type: Class
subclass of: upper respiratory tract disease
id: DOID:0050145
has_obo_namespace: disease_ontology
has_alternative_id: DOID:13750
database_cross_reference: SNOMEDCT_US_2020_03_01:195794009
definition: An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing.
database_cross_reference: UMLS_CUI:C0396023
database_cross_reference: ICD9CM:474.01
database_cross_reference: ICD10CM:J35.02
has_exact_synonym: chronic adenoiditis
imported from: doid.owl

otomycosis
type: Class
subclass of: otitis externa
id: DOID:0050147
definition: An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans.
database_cross_reference: MESH:D059249
has_exact_synonym: Singapore ear
has_obo_namespace: disease_ontology
imported from: doid.owl

laryngotracheitis
type: Class
subclass of: upper respiratory tract disease
database_cross_reference: UMLS_CUI:C0155837
database_cross_reference: ICD9CM:464
database_cross_reference: UMLS_CUI:C0155811
database_cross_reference: ICD9CM:476.1
has_alternative_id: DOID:9390
has_alternative_id: DOID:11795
database_cross_reference: ICD10CM:J37.1
database_cross_reference: ICD10CM:J04
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:83271005
database_cross_reference: SNOMEDCT_US_2020_03_01:276443001
definition: An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
id: DOID:0050148
imported from: doid.owl

Pontiac fever
type: Class
subclass of: legionellosis
id: DOID:0050150
has_obo_namespace: disease_ontology
definition: A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

aspiration pneumonia
type: Class
subclass of: bacterial pneumonia
database_cross_reference: SNOMEDCT_US_2020_03_01:47839005
database_cross_reference: ICD10CM:J69.0
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D011015
definition: A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
id: DOID:0050152
database_cross_reference: UMLS_CUI:C0032290
imported from: doid.owl

pulmonary aspergilloma
type: Class
subclass of: aspergillosis
subclass of: lung disease
id: DOID:0050153
definition: An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring.
has_obo_namespace: disease_ontology
imported from: doid.owl

sensory system disease
type: Class
subclass of: nervous system disease
id: DOID:0050155
definition: A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
has_obo_namespace: disease_ontology
in_subset: DO AGR slim
in_subset: DO FlyBase slim
in_subset: DO GXD slim
imported from: doid.owl

idiopathic pulmonary fibrosis
type: Class
subclass of: pulmonary fibrosis
id: DOID:0050156
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1800706
database_cross_reference: EFO:0000768
database_cross_reference: GARD:8609
database_cross_reference: ICD10CM:J84.112
database_cross_reference: ICD9CM:516.31
database_cross_reference: SNOMEDCT_US_2020_03_01:28168000
database_cross_reference: MESH:D054990
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C35716
definition: A pulmonary fibrosis that is characterized by scarring of the lung.
has_exact_synonym: FIBROCYSTIC PULMONARY DYSPLASIA
has_exact_synonym: IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
database_cross_reference: OMIM:178500
has_exact_synonym: cryptogenic fibrosing alveolitis
in_subset: NCIthesaurus
imported from: doid.owl

cryptogenic organizing pneumonia
type: Class
subclass of: idiopathic interstitial pneumonia
id: DOID:0050157
database_cross_reference: GARD:1620
database_cross_reference: NCI:C62586
database_cross_reference: SNOMEDCT_US_2020_03_01:129458007
database_cross_reference: ICD9CM:516.36
database_cross_reference: MESH:D018549
database_cross_reference: UMLS_CUI:C0242770
has_obo_namespace: disease_ontology
has_alternative_id: DOID:2798
definition: An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
has_exact_synonym: BOOP
has_exact_synonym: Cryptogenic organising pneumonitis
has_exact_synonym: Cryptogenic organizing pneumonitis
database_cross_reference: ICD10CM:J84.116
has_exact_synonym: bronchiolitis obliterans organising pneumonia
has_exact_synonym: bronchiolitis obliterans organizing pneumonia
has_exact_synonym: cryptogenic organising pneumonia
has_exact_synonym: idiopathic bronchiolitis obliterans with organising pneumonia
has_exact_synonym: idiopathic bronchiolitis obliterans with organizing pneumonia
in_subset: NCIthesaurus
imported from: doid.owl

inhalation anthrax
type: Class
subclass of: anthrax disease
has_obo_namespace: disease_ontology
definition: An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
id: DOID:0050160
has_exact_synonym: pulmonary anthrax
has_exact_synonym: respiratory anthrax
has_exact_synonym: wool-sorters' disease
has_exact_synonym: woolsorters' disease
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

lower respiratory tract disease
type: Class
subclass of: respiratory system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:195823002
definition: A respiratory system disease which involves the lower respiratory tract.
id: DOID:0050161
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:478.19
database_cross_reference: UMLS_CUI:C0029581
imported from: doid.owl

autoimmune polyendocrine syndrome type 1
type: Class
subclass of: autoimmune polyendocrine syndrome
database_cross_reference: OMIM:240300
has_obo_namespace: disease_ontology
id: DOID:0050167
definition: An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
has_exact_synonym: Autoimmune Polyglandular Syndrome I
database_cross_reference: GARD:8466
has_exact_synonym: Whitaker syndrome
has_exact_synonym: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
imported from: doid.owl

autoimmune polyendocrine syndrome type 2
type: Class
subclass of: autoimmune polyendocrine syndrome
definition: An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.
database_cross_reference: GARD:7611
database_cross_reference: OMIM:269200
has_exact_synonym: Schmidt syndrome
has_obo_namespace: disease_ontology
id: DOID:0050168
imported from: doid.owl

cutaneous lupus erythematosus
type: Class
subclass of: skin disease
subclass of: lupus erythematosus
id: DOID:0050169
database_cross_reference: GARD:6225
definition: A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
has_obo_namespace: disease_ontology
imported from: doid.owl

tick-borne encephalitis
type: Class
subclass of: viral infectious disease
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
has_obo_namespace: disease_ontology
database_cross_reference: GARD:5216
has_alternative_id: DOID:10251
has_alternative_id: DOID:10252
id: DOID:0050175
has_alternative_id: DOID:0050176
has_exact_synonym: Central European encephalitis
has_exact_synonym: Far Eastern TBE
database_cross_reference: ICD9CM:063.2
database_cross_reference: UMLS_CUI:C0014054
database_cross_reference: ICD10CM:A84.1
database_cross_reference: MESH:D004675
has_exact_synonym: Russian spring-summer encephalitis
database_cross_reference: SNOMEDCT_US_2020_03_01:16901001
has_exact_synonym: Siberian tick-borne encephalitis
has_exact_synonym: Taiga encephalitis
has_exact_synonym: Western European tick-borne encephalitis
has_exact_synonym: west-Siberian encephalitis
in_subset: tick-borne infectious disease
imported from: doid.owl

monogenic disease
type: Class
subclass of: genetic disease
definition: A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
has_obo_namespace: disease_ontology
id: DOID:0050177
in_subset: DO AGR slim
in_subset: DO GXD slim
imported from: doid.owl

erythema multiforme
type: Class
subclass of: allergic disease
subclass of: skin disease
definition: A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
database_cross_reference: MESH:D004892
database_cross_reference: GARD:6372
id: DOID:0050185
has_obo_namespace: disease_ontology
imported from: doid.owl

Argentine hemorrhagic fever
type: Class
subclass of: viral infectious disease
has_obo_namespace: disease_ontology
id: DOID:0050194
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
in_subset: zoonotic infectious disease
imported from: doid.owl

Venezuelan hemorrhagic fever
type: Class
subclass of: viral infectious disease
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
has_obo_namespace: disease_ontology
id: DOID:0050196
in_subset: zoonotic infectious disease
imported from: doid.owl

Korean hemorrhagic fever
type: Class
subclass of: Hantavirus hemorrhagic fever with renal syndrome
has_obo_namespace: disease_ontology
id: DOID:0050200
definition: A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
in_subset: zoonotic infectious disease
imported from: doid.owl

Lambert-Eaton myasthenic syndrome
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: autoimmune disease of peripheral nervous system
subclass of: neuromuscular junction disease
id: DOID:0050214
definition: A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0022972
database_cross_reference: SNOMEDCT_US_2020_03_01:230688006
has_exact_synonym: Eaton-Lambert syndrome
database_cross_reference: ICD9CM:358.3
database_cross_reference: NCI:C3155
database_cross_reference: MESH:D015624
database_cross_reference: ICD10CM:G70.80
has_exact_synonym: LEMS
has_exact_synonym: Lambert-Eaton syndrome
in_subset: NCIthesaurus
imported from: doid.owl

primary amebic meningoencephalitis
type: Class
subclass of: parasitic protozoa infectious disease
subclass of: central nervous system disease
id: DOID:0050242
database_cross_reference: GARD:9554
has_obo_namespace: disease_ontology
definition: A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
has_exact_synonym: Naegleria fowleri infection
imported from: doid.owl

granulomatous amebic encephalitis
type: Class
subclass of: primary amebic meningoencephalitis
subclass of: brain disease
definition: A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.
has_exact_synonym: Acanthamoeba granulomatous encephalitis
database_cross_reference: GARD:12651
id: DOID:0050246
has_exact_synonym: Acanthamoeba encephalitis
has_obo_namespace: disease_ontology
has_exact_synonym: Granulomatous Amebic Encephalitis due to Acanthamoeba
has_exact_synonym: granulomatous amoebic encephalitis
imported from: doid.owl

angiostrongyliasis
type: Class
subclass of: central nervous system disease
subclass of: intestinal disease
subclass of: eye disease
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: GARD:683
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
id: DOID:0050256
has_obo_namespace: disease_ontology
imported from: doid.owl

tungiasis
type: Class
subclass of: parasitic ectoparasitic infectious disease
database_cross_reference: GARD:393
database_cross_reference: MESH:D058285
has_obo_namespace: disease_ontology
definition: A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo.
id: DOID:0050266
imported from: doid.owl

ophthalmomyiasis
type: Class
subclass of: myiasis
subclass of: eye disease
id: DOID:0050268
definition: A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.
has_obo_namespace: disease_ontology
imported from: doid.owl

conidiobolomycosis
type: Class
subclass of: subcutaneous mycosis
definition: An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions.
has_obo_namespace: disease_ontology
id: DOID:0050279
imported from: doid.owl

fusariosis
type: Class
subclass of: opportunistic mycosis
id: DOID:0050289
database_cross_reference: MESH:D060585
definition: An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma.
has_obo_namespace: disease_ontology
imported from: doid.owl

trichosporonosis
type: Class
subclass of: opportunistic mycosis
definition: An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D060586
id: DOID:0050290
imported from: doid.owl

primary systemic mycosis
type: Class
subclass of: systemic mycosis
definition: A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract.
id: DOID:0050292
has_obo_namespace: disease_ontology
imported from: doid.owl

aniseikonia
type: Class
subclass of: refractive error
definition: A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000839
id: DOID:0050304
imported from: doid.owl

congenital hypothyroidism
type: Class
subclass of: physical disorder
subclass of: hypothyroidism
database_cross_reference: OMIM:PS275200
database_cross_reference: GARD:1487
database_cross_reference: ICD10CM:E00.1
has_alternative_id: DOID:11631
has_alternative_id: DOID:11632
database_cross_reference: ICD9CM:243
database_cross_reference: ICD10CM:E03.1
definition: A hypothyroidism that is present at birth.
database_cross_reference: UMLS_CUI:C0010308
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:217710005
database_cross_reference: NCI:C26734
database_cross_reference: MESH:D003409
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C98921
database_cross_reference: UMLS_CUI:C0342200
id: DOID:0050328
database_cross_reference: SNOMEDCT_US_2020_03_01:75065003
in_subset: NCIthesaurus
imported from: doid.owl

LADD syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:0050331
definition: A syndrome that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
has_exact_synonym: LEVY-HOLLISTER SYNDROME
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:149730
has_exact_synonym: lacrimoauriculodentodigital syndrome
imported from: doid.owl

enlarged vestibular aqueduct
type: Class
subclass of: vestibular disease
has_obo_namespace: disease_ontology
database_cross_reference: GARD:8651
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:0050332
definition: A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.
imported from: doid.owl

hypophosphatemia
type: Class
subclass of: phosphorus metabolism disease
definition: A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.
id: DOID:0050336
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D017674
imported from: doid.owl

primary bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
definition: A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
id: DOID:0050338
has_obo_namespace: disease_ontology
in_subset: DO FlyBase slim
imported from: doid.owl

commensal bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
has_obo_namespace: disease_ontology
definition: A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
id: DOID:0050339
imported from: doid.owl

opportunistic bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
has_obo_namespace: disease_ontology
id: DOID:0050340
definition: A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
in_subset: DO FlyBase slim
imported from: doid.owl

foodborne botulism
type: Class
subclass of: botulism
id: DOID:0050352
definition: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis.
has_obo_namespace: disease_ontology
in_subset: GOLD
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

wound botulism
type: Class
subclass of: botulism
has_obo_namespace: disease_ontology
definition: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
id: DOID:0050353
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

infant botulism
type: Class
subclass of: botulism
definition: A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
id: DOID:0050354
has_obo_namespace: disease_ontology
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

Carrion's disease
type: Class
subclass of: bartonellosis
definition: A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed.
id: DOID:0050398
has_exact_synonym: Oroya fever
has_obo_namespace: disease_ontology
has_exact_synonym: Carrion disease
imported from: doid.owl

familial adenomatous polyposis
type: Class
subclass of: autosomal genetic disease
subclass of: intestinal disease
database_cross_reference: MESH:D011125
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6408
database_cross_reference: NCI:C3339
definition: An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
database_cross_reference: UMLS_CUI:C0032580
database_cross_reference: ORDO:733
database_cross_reference: OMIM:PS175100
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:72900001
id: DOID:0050424
has_exact_synonym: adenomatous polyposis of the colon
in_subset: NCIthesaurus
imported from: doid.owl

Stevens-Johnson syndrome
type: Class
subclass of: skin disease
database_cross_reference: ICD9CM:695.13
id: DOID:0050426
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L51.1
definition: A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.
database_cross_reference: NCI:C79777
database_cross_reference: EFO:0004276
database_cross_reference: NCI:C79484
database_cross_reference: UMLS_CUI:C0038325
database_cross_reference: SNOMEDCT_US_2020_03_01:73442001
database_cross_reference: GARD:7700
in_subset: NCIthesaurus
imported from: doid.owl

xeroderma pigmentosum
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: NCI:C3452
database_cross_reference: GARD:7910
database_cross_reference: ORDO:910
database_cross_reference: SNOMEDCT_US_2020_03_01:44600005
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0043346
id: DOID:0050427
database_cross_reference: MESH:D014983
database_cross_reference: ICD10CM:Q82.1
comment: OMIM mapping confirmed by DO. [SN].
definition: A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

nonepidermolytic palmoplantar keratoderma
type: Class
subclass of: palmoplantar keratosis
database_cross_reference: OMIM:613000
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015776
definition: A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
database_cross_reference: OMIM:615735
database_cross_reference: NCI:C3147
database_cross_reference: ORDO:2337
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:81206005
id: DOID:0050428
has_exact_synonym: Thost-Unna Syndrome
database_cross_reference: UMLS_CUI:C3489771
database_cross_reference: OMIM:600962
database_cross_reference: UMLS_CUI:C0022584
has_exact_synonym: Unna-Thost Syndrome
has_exact_synonym: diffuse nonepidermolytic palmomplantar keratoderma
has_exact_synonym: tylosis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Hailey-Hailey disease
type: Class
subclass of: autosomal dominant disease
subclass of: pemphigus
database_cross_reference: SNOMEDCT_US_2020_03_01:79468000
definition: A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.
database_cross_reference: MESH:D016506
has_exact_synonym: BENIGN CHRONIC PEMPHIGUS
database_cross_reference: OMIM:169600
database_cross_reference: GARD:6559
database_cross_reference: ICD10CM:Q82.8
database_cross_reference: UMLS_CUI:C0085106
database_cross_reference: NCI:C82865
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Pemphigus, Benign Familial
has_obo_namespace: disease_ontology
id: DOID:0050429
in_subset: NCIthesaurus
imported from: doid.owl

multiple endocrine neoplasia type 2A
type: Class
subclass of: autosomal dominant disease
subclass of: multiple endocrine neoplasia
has_obo_namespace: disease_ontology
id: DOID:0050430
database_cross_reference: NCI:C3226
definition: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
database_cross_reference: MESH:D018813
database_cross_reference: OMIM:171400
has_exact_synonym: MEN2A
database_cross_reference: ORDO:247698
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:E31.22
database_cross_reference: SNOMEDCT_US_2020_03_01:721188000
database_cross_reference: UMLS_CUI:C0025268
database_cross_reference: ICD9CM:258.02
has_exact_synonym: Sipple syndrome
has_exact_synonym: multiple endocrine neoplasia II
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

arrhythmogenic right ventricular cardiomyopathy
type: Class
subclass of: intrinsic cardiomyopathy
database_cross_reference: UMLS_CUI:C0349788
definition: An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
database_cross_reference: ORDO:217656
id: DOID:0050431
database_cross_reference: SNOMEDCT_US_2020_03_01:281170005
has_exact_synonym: ARVC
has_exact_synonym: ARVC cardiomyopathy
has_exact_synonym: ARVD
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D019571
database_cross_reference: ORDO:247
database_cross_reference: NCI:C84571
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS107970
has_exact_synonym: arrhythmogenic right ventricular dysplasia
has_exact_synonym: arrhythmogenic right ventricular dysplasia/cardiomyopathy
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Asperger syndrome
type: Class
subclass of: autism spectrum disorder
database_cross_reference: OMIM:608781
database_cross_reference: ICD10CM:F84.5
database_cross_reference: ORDO:1162
database_cross_reference: OMIM:608631
database_cross_reference: OMIM:609954
definition: An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
database_cross_reference: NCI:C97159
id: DOID:0050432
database_cross_reference: OMIM:608638
database_cross_reference: UMLS_CUI:C0236792
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020817
database_cross_reference: GARD:5855
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:154879004
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

fatal familial insomnia
type: Class
subclass of: prion disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84711
database_cross_reference: ICD10CM:A81.83
database_cross_reference: UMLS_CUI:C0206042
database_cross_reference: SNOMEDCT_US_2020_03_01:83157008
id: DOID:0050433
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:600072
database_cross_reference: MESH:D034062
definition: A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
database_cross_reference: GARD:6429
database_cross_reference: ICD9CM:046.72
in_subset: NCIthesaurus
imported from: doid.owl

mulibrey nanism
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: UMLS_CUI:C0524582
database_cross_reference: OMIM:253250
id: DOID:0050436
database_cross_reference: GARD:95
database_cross_reference: NCI:C84906
comment: OMIM mapping confirmed by DO. [SN].
definition: A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
database_cross_reference: ORDO:2576
database_cross_reference: SNOMEDCT_US_2020_03_01:81604003
database_cross_reference: MESH:D050336
has_exact_synonym: MUL
has_exact_synonym: Mulibrey growth disorder
has_exact_synonym: Muscle-Liver-Brain-Eye Nanism
has_exact_synonym: PERICARDIAL CONSTRICTION AND GROWTH FAILURE
has_exact_synonym: Perheentupa Syndrome
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

Danon disease
type: Class
subclass of: X-linked dominant disease
subclass of: lysosomal storage disease
database_cross_reference: GARD:9730
comment: OMIM mapping confirmed by DO. [SN].
definition: A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.
has_exact_synonym: ANTOPOL DISEASE
database_cross_reference: OMIM:300257
id: DOID:0050437
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D052120
database_cross_reference: SNOMEDCT_US_2020_03_01:419097006
database_cross_reference: NCI:C84735
has_exact_synonym: PSEUDOGLYCOGENOSIS II
database_cross_reference: UMLS_CUI:C0878677
in_subset: NCIthesaurus
imported from: doid.owl

Frasier syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:445431000
database_cross_reference: NCI:C122805
database_cross_reference: GARD:2375
has_obo_namespace: disease_ontology
id: DOID:0050438
database_cross_reference: MESH:D052159
database_cross_reference: UMLS_CUI:C0950122
definition: A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:136680
in_subset: NCIthesaurus
imported from: doid.owl

Usher syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
has_obo_namespace: disease_ontology
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
database_cross_reference: UMLS_CUI:C0271097
database_cross_reference: NCI:C85217
database_cross_reference: GARD:7843
database_cross_reference: SNOMEDCT_US_2020_03_01:57838006
database_cross_reference: ORDO:886
id: DOID:0050439
database_cross_reference: OMIM:PS276900
database_cross_reference: MESH:D052245
definition: A syndrome characterized by a combination of hearing loss and visual impairment.
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

mucosulfatidosis
type: Class
subclass of: autosomal recessive disease
subclass of: sphingolipidosis
database_cross_reference: NCI:C84908
id: DOID:0050441
database_cross_reference: UMLS_CUI:C1720864
definition: A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:54898003
database_cross_reference: MESH:D052517
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Sulfatidosis, Juvenile, Austin Type
database_cross_reference: UMLS_CUI:C0268263
database_cross_reference: OMIM:272200
database_cross_reference: ICD10CM:E75.26
database_cross_reference: SNOMEDCT_US_2020_03_01:254076009
has_exact_synonym: multiple sulfatase deficiency disease
in_subset: NCIthesaurus
imported from: doid.owl

infantile Refsum disease
type: Class
subclass of: peroxisomal disease
database_cross_reference: UMLS_CUI:C0282527
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84789
database_cross_reference: MESH:D052919
definition: A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.
database_cross_reference: OMIM:266510
id: DOID:0050444
database_cross_reference: SNOMEDCT_US_2020_03_01:238062008
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G60.1
has_exact_synonym: infantile phytanic acid storage disease
in_subset: NCIthesaurus
imported from: doid.owl

X-linked dominant hypophosphatemic rickets
type: Class
subclass of: X-linked dominant disease
subclass of: rickets
definition: A rickets has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C85234
database_cross_reference: NCI:C123265
database_cross_reference: UMLS_CUI:C1845168
database_cross_reference: UMLS_CUI:C3540852
has_exact_synonym: Hypophosphatemia, Vitamin D-Resistant Rickets
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0733682
id: DOID:0050445
database_cross_reference: MESH:D053098
database_cross_reference: OMIM:307800
has_exact_synonym: Vitamin D-Resistant Rickets, X-Linked
has_exact_synonym: X-linked hypophosphatemia
has_exact_synonym: hypophosphatemic rickets X-linked dominant
in_subset: NCIthesaurus
imported from: doid.owl

hereditary mucosal leukokeratosis
type: Class
subclass of: skin disease
database_cross_reference: NCI:C84760
database_cross_reference: SNOMEDCT_US_2020_03_01:85388002
database_cross_reference: ORDO:171723
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D053529
id: DOID:0050448
database_cross_reference: OMIM:615785
definition: A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1721005
database_cross_reference: OMIM:193900
has_exact_synonym: white sponge nevus
has_exact_synonym: white sponge nevus of Cannon
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

pachyonychia congenita
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
definition: A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis in gene mutations that result in changes in keratin.
database_cross_reference: UMLS_CUI:C0265334
database_cross_reference: NCI:C84986
database_cross_reference: SNOMEDCT_US_2020_03_01:39427000
database_cross_reference: UMLS_CUI:C1721007
has_exact_synonym: Jackson-Lawler Type Pachyonychia Congenita
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D053549
id: DOID:0050449
database_cross_reference: ORDO:2309
database_cross_reference: GARD:10753
has_exact_synonym: Jadassohn-Lewandowsky Syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:PS167200
has_exact_synonym: PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
has_exact_synonym: Pachyonychia Congenita Type 1
database_cross_reference: UMLS_CUI:C1706595
in_subset: NCIthesaurus
imported from: doid.owl

Gitelman syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: renal tubular transport disease
definition: A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).
database_cross_reference: NCI:C84730
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D053579
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:263800
id: DOID:0050450
database_cross_reference: SNOMEDCT_US_2020_03_01:3188003
database_cross_reference: GARD:8547
database_cross_reference: UMLS_CUI:C0268450
has_exact_synonym: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
in_subset: NCIthesaurus
imported from: doid.owl

Brugada syndrome
type: Class
subclass of: monogenic disease
subclass of: heart conduction disease
database_cross_reference: OMIM:PS601144
database_cross_reference: GARD:1030
database_cross_reference: SNOMEDCT_US_2020_03_01:418818005
database_cross_reference: UMLS_CUI:C1142166
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D053840
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C1721096
definition: A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
has_exact_synonym: Bangungut
has_exact_synonym: Brugada type idiopathic ventricular fibrillation
database_cross_reference: ICD10CM:I49.8
database_cross_reference: ORDO:130
id: DOID:0050451
database_cross_reference: NCI:C142891
has_exact_synonym: Dream disease
has_exact_synonym: Pokkuri death syndrome
has_exact_synonym: SUNDS
has_exact_synonym: sudden unexplained nocturnal death syndrome
imported from: doid.owl

mevalonic aciduria
type: Class
subclass of: genetic disease
subclass of: peroxisomal disease
id: DOID:0050452
database_cross_reference: ORDO:29
database_cross_reference: MESH:D054078
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:124327008
definition: A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
database_cross_reference: UMLS_CUI:C1959626
database_cross_reference: GARD:3588
database_cross_reference: OMIM:610377
database_cross_reference: ICD10CM:M04.1
has_exact_synonym: Mevalonate Kinase Deficiency
database_cross_reference: NCI:C84890
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0342731
database_cross_reference: UMLS_CUI:C0398691
database_cross_reference: SNOMEDCT_US_2020_03_01:234538002
in_subset: NCIthesaurus
imported from: doid.owl

lissencephaly
type: Class
subclass of: congenital nervous system abnormality
database_cross_reference: ORDO:102009
database_cross_reference: UMLS_CUI:C0266463
database_cross_reference: UMLS_CUI:C0266483
database_cross_reference: MESH:D054082
database_cross_reference: OMIM:615191
database_cross_reference: NCI:C103921
database_cross_reference: ICD10CM:Q04.3
database_cross_reference: OMIM:300215
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:614019
id: DOID:0050453
database_cross_reference: OMIM:611603
database_cross_reference: OMIM:607432
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:12291
database_cross_reference: OMIM:300067
database_cross_reference: SNOMEDCT_US_2020_03_01:204036008
definition: A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
database_cross_reference: SNOMEDCT_US_2020_03_01:23024003
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

periventricular nodular heterotopia
type: Class
subclass of: congenital nervous system abnormality
database_cross_reference: OMIM:608098
database_cross_reference: UMLS_CUI:C1868720
database_cross_reference: SNOMEDCT_US_2020_03_01:816068000
database_cross_reference: SNOMEDCT_US_2020_03_01:448227009
id: DOID:0050454
database_cross_reference: OMIM:300049
database_cross_reference: ORDO:98892
definition: A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
has_obo_namespace: disease_ontology
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D054091
database_cross_reference: OMIM:612881
database_cross_reference: UMLS_CUI:C1848213
database_cross_reference: OMIM:615544
database_cross_reference: OMIM:608097
has_exact_synonym: periventricular heterotopia
in_subset: DO rare slim
imported from: doid.owl

Buruli ulcer disease
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: NCI:C84604
database_cross_reference: ICD10CM:A31.1
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9520
database_cross_reference: SNOMEDCT_US_2020_03_01:186343005
database_cross_reference: UMLS_CUI:C0085568
database_cross_reference: MESH:D054312
definition: A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.
id: DOID:0050456
has_exact_synonym: Bairnsdale ulcer
has_exact_synonym: Daintree ulcer
has_exact_synonym: Mossman ulcer
has_exact_synonym: Searl ulcer
has_exact_synonym: Searle's ulcer
in_subset: NCIthesaurus
imported from: doid.owl

Sertoli cell-only syndrome
type: Class
subclass of: male infertility
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1384583
database_cross_reference: MESH:D054331
database_cross_reference: GARD:8406
database_cross_reference: SNOMEDCT_US_2020_03_01:73465006
comment: OMIM mapping confirmed by DO. [SN].
definition: A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
has_exact_synonym: DEL CASTILLO SYNDROME
id: DOID:0050457
has_exact_synonym: Germinal Cell Aplasia
imported from: doid.owl

juvenile myelomonocytic leukemia
type: Class
subclass of: myelodysplastic/myeloproliferative neoplasm
database_cross_reference: MESH:D054429
database_cross_reference: UMLS_CUI:C0349639
id: DOID:0050458
definition: A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
database_cross_reference: OMIM:607785
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:C93.3
database_cross_reference: NCI:C9233
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9884
database_cross_reference: SNOMEDCT_US_2020_03_01:445227008
in_subset: NCIthesaurus
imported from: doid.owl

hyperphosphatemia
type: Class
subclass of: phosphorus metabolism disease
definition: A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnomral phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
database_cross_reference: MESH:D054559
id: DOID:0050459
database_cross_reference: NCI:C113750
database_cross_reference: UMLS_CUI:C0085681
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:20165001
in_subset: NCIthesaurus
imported from: doid.owl

Wolf-Hirschhorn syndrome
type: Class
subclass of: chromosomal deletion syndrome
database_cross_reference: UMLS_CUI:C1956097
has_exact_synonym: 4p deletion syndrome
id: DOID:0050460
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:17122004
database_cross_reference: GARD:7896
database_cross_reference: UMLS_CUI:C0796117
database_cross_reference: ICD10CM:Q93.3
database_cross_reference: ORDO:280
database_cross_reference: OMIM:194190
database_cross_reference: MESH:D054877
database_cross_reference: NCI:C35528
definition: A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4.
has_alternative_id: DOID:6684
comment: OMIM mapping confirmed by DO. [LS].
has_exact_synonym: PITT SYNDROME
has_exact_synonym: Pitt-Rogers-Danks Syndrome
has_exact_synonym: chromosome 4p16.3 deletion syndrome
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

aspartylglucosaminuria
type: Class
subclass of: lysosomal storage disease
subclass of: genetic disease
database_cross_reference: NCI:C61273
database_cross_reference: UMLS_CUI:C0268225
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:208400
id: DOID:0050461
database_cross_reference: MESH:D054880
definition: A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
database_cross_reference: SNOMEDCT_US_2020_03_01:54954004
database_cross_reference: ICD10CM:E77.1
database_cross_reference: GARD:5854
has_exact_synonym: aspartylglucosaminidase deficiency
has_exact_synonym: aspartylglycosaminuria
has_exact_synonym: glycosylasparaginase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

Antley-Bixler syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:62964007
database_cross_reference: OMIM:207410
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:201750
definition: A syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
id: DOID:0050462
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: trapezoidocephaly-synostosis syndrome
imported from: doid.owl

campomelic dysplasia
type: Class
subclass of: autosomal dominant disease
subclass of: osteochondrodysplasia
database_cross_reference: NCI:C84609
database_cross_reference: GARD:10027
id: DOID:0050463
database_cross_reference: MESH:D055036
has_obo_namespace: disease_ontology
definition: An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.
database_cross_reference: SNOMEDCT_US_2020_03_01:74928006
database_cross_reference: OMIM:114290
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C1861922
database_cross_reference: UMLS_CUI:C1861923
has_exact_synonym: Acampomelic Campomelic Dysplasia
database_cross_reference: ORDO:140
database_cross_reference: NCI:C120205
in_subset: NCIthesaurus
imported from: doid.owl

Farber lipogranulomatosis
type: Class
subclass of: lipid storage disease
id: DOID:0050464
database_cross_reference: MESH:D055577
has_exact_synonym: N-laurylsphingosine deacylase deficiency
database_cross_reference: UMLS_CUI:C0268255
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84710
has_exact_synonym: Farber disease
database_cross_reference: SNOMEDCT_US_2020_03_01:79935000
database_cross_reference: GARD:6426
database_cross_reference: OMIM:228000
has_obo_namespace: disease_ontology
definition: A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.
has_exact_synonym: acid ceramidase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

Muir-Torre syndrome
type: Class
subclass of: Lynch syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:158320
database_cross_reference: SNOMEDCT_US_2020_03_01:403824007
database_cross_reference: MESH:D055653
database_cross_reference: UMLS_CUI:C1321489
id: DOID:0050465
definition: A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84905
database_cross_reference: GARD:6821
in_subset: NCIthesaurus
imported from: doid.owl

Loeys-Dietz syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:60030
database_cross_reference: MESH:D055947
id: DOID:0050466
database_cross_reference: UMLS_CUI:C1836635
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C75006
definition: A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.
database_cross_reference: SNOMEDCT_US_2020_03_01:446263001
database_cross_reference: GARD:10788
database_cross_reference: UMLS_CUI:C2697932
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

erythrokeratodermia variabilis
type: Class
subclass of: monogenic disease
subclass of: skin disease
database_cross_reference: UMLS_CUI:C1851480
database_cross_reference: SNOMEDCT_US_2020_03_01:70041004
database_cross_reference: OMIM:PS133200
database_cross_reference: NCI:C84696
database_cross_reference: ORDO:317
has_obo_namespace: disease_ontology
has_exact_synonym: Erythrokeratodermia Figurata Variabilis
has_exact_synonym: Greither Disease
database_cross_reference: UMLS_CUI:C0265961
database_cross_reference: MESH:D056266
id: DOID:0050467
comment: OMIM mapping confirmed by DO. [SN].
definition: A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

yellow nail syndrome
type: Class
subclass of: syndrome
subclass of: skin disease
subclass of: nail disease
database_cross_reference: ICD10CM:L60.5
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D056684
database_cross_reference: GARD:184
definition: A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C85238
database_cross_reference: SNOMEDCT_US_2020_03_01:400211001
database_cross_reference: UMLS_CUI:C0221348
database_cross_reference: OMIM:153300
id: DOID:0050468
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Costello syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: RASopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:205803001
database_cross_reference: OMIM:218040
database_cross_reference: UMLS_CUI:C0587248
id: DOID:0050469
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D056685
definition: A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
has_exact_synonym: FCS SYNDROME
has_exact_synonym: Faciocutaneoskeletal Syndrome
database_cross_reference: GARD:1550
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84652
in_subset: NCIthesaurus
imported from: doid.owl

Donohue syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
has_obo_namespace: disease_ontology
definition: A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
database_cross_reference: MESH:D056731
database_cross_reference: ORDO:508
database_cross_reference: SNOMEDCT_US_2020_03_01:111307005
database_cross_reference: OMIM:246200
id: DOID:0050470
database_cross_reference: UMLS_CUI:C0271695
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0265344
database_cross_reference: NCI:C84676
database_cross_reference: SNOMEDCT_US_2020_03_01:33559001
has_exact_synonym: Leprechaunism
database_cross_reference: NCI:C131000
in_subset: NCIthesaurus
imported from: doid.owl

Carney complex
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
definition: A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
id: DOID:0050471
database_cross_reference: MESH:D056733
database_cross_reference: OMIM:160980
database_cross_reference: OMIM:608837
database_cross_reference: ORDO:1359
database_cross_reference: UMLS_CUI:C1854540
has_exact_synonym: Carney Complex, Type 2
database_cross_reference: NCI:C4705
has_exact_synonym: Carney Syndrome
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:733491005
database_cross_reference: OMIM:605244
database_cross_reference: GARD:1119
has_exact_synonym: Carney complex variant
has_exact_synonym: LAMB Syndrome
has_exact_synonym: NAME Syndrome
database_cross_reference: UMLS_CUI:C2607929
database_cross_reference: UMLS_CUI:C0406810
has_obo_namespace: disease_ontology
has_exact_synonym: Carney Complex, Type 1
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

monilethrix
type: Class
subclass of: autosomal dominant disease
subclass of: hair disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:158000
database_cross_reference: NCI:C84894
database_cross_reference: UMLS_CUI:C0546966
database_cross_reference: MESH:D056734
id: DOID:0050472
has_obo_namespace: disease_ontology
database_cross_reference: GARD:93
database_cross_reference: ICD10CM:Q84.1
database_cross_reference: SNOMEDCT_US_2020_03_01:69488000
definition: A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.
in_subset: NCIthesaurus
imported from: doid.owl

Alstrom syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: NCI:C84549
definition: A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
database_cross_reference: SNOMEDCT_US_2020_03_01:63702009
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:203800
database_cross_reference: MESH:D056769
database_cross_reference: UMLS_CUI:C0268425
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:0050473
in_subset: NCIthesaurus
imported from: doid.owl

Netherton syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: skin disease
database_cross_reference: MESH:D056770
id: DOID:0050474
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:634
database_cross_reference: SNOMEDCT_US_2020_03_01:312514006
database_cross_reference: NCI:C84922
database_cross_reference: OMIM:256500
comment: OMIM mapping confirmed by DO. [SN].
definition: A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.
database_cross_reference: UMLS_CUI:C0265962
database_cross_reference: GARD:7182
in_subset: NCIthesaurus
imported from: doid.owl

Weill-Marchesani syndrome
type: Class
subclass of: autosomal genetic disease
subclass of: syndrome
database_cross_reference: MESH:D056846
database_cross_reference: ORDO:3449
definition: A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
database_cross_reference: SNOMEDCT_US_2020_03_01:205801004
database_cross_reference: OMIM:608328
database_cross_reference: UMLS_CUI:C0265313
database_cross_reference: OMIM:613195
has_obo_namespace: disease_ontology
id: DOID:0050475
database_cross_reference: GARD:4936
database_cross_reference: UMLS_CUI:C1869114
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
database_cross_reference: UMLS_CUI:C1869115
database_cross_reference: OMIM:277600
database_cross_reference: OMIM:614819
database_cross_reference: NCI:C85226
has_exact_synonym: GEMSS syndrome
has_exact_synonym: Marchesani-Weill Syndrome
has_exact_synonym: Mesodermal Dysmorphodystrophy, Congenital
has_exact_synonym: Spherophakia Brachymorphia Syndrome
has_exact_synonym: congenital mesodermal dystrophy
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Barth syndrome
type: Class
subclass of: X-linked recessive disease
subclass of: lipid metabolism disorder
database_cross_reference: GARD:5890
database_cross_reference: OMIM:302060
has_exact_synonym: 3-methylglutaconicaciduria type 2
id: DOID:0050476
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0574083
definition: A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
has_exact_synonym: 3-methylglutaconicaciduria type II
database_cross_reference: ICD10CM:E78.71
database_cross_reference: MESH:D056889
has_exact_synonym: MGA Type 2
has_exact_synonym: MGA type II
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:297231002
database_cross_reference: NCI:C84585
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Liddle syndrome
type: Class
subclass of: renal tubular transport disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:7381
has_exact_synonym: Liddle's syndrome
database_cross_reference: OMIM:177200
database_cross_reference: MESH:D056929
definition: A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.
has_exact_synonym: Pseudoaldosteronism
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:707749005
id: DOID:0050477
database_cross_reference: NCI:C84827
database_cross_reference: UMLS_CUI:C0221043
in_subset: NCIthesaurus
imported from: doid.owl

endemic typhus
type: Class
subclass of: typhus
has_obo_namespace: disease_ontology
has_alternative_id: DOID:0050057
has_alternative_id: DOID:0050058
definition: A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash.
has_alternative_id: DOID:0050028
id: DOID:0050481
has_alternative_id: DOID:0050030
has_alternative_id: DOID:0050029
has_exact_synonym: Rat-Flea Typhus
has_exact_synonym: Rickettsia felis spotted fever
has_related_synonym: Shop typhus
has_exact_synonym: Urban Typhus of Malaya
has_exact_synonym: cat flea rickettsiosis
has_exact_synonym: fleaborne typhus
has_exact_synonym: murine typhus
has_exact_synonym: toulon typhus
has_exact_synonym: urban typhus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

sennetsu fever
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: GARD:120
has_obo_namespace: disease_ontology
id: DOID:0050485
definition: A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.
has_exact_synonym: Sennetsu ehrlichiosis
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

exanthem
type: Class
subclass of: skin disease
database_cross_reference: NCI:C111884
id: DOID:0050486
database_cross_reference: SNOMEDCT_US_2020_03_01:112625008
database_cross_reference: ICD10CM:R21
database_cross_reference: MESH:D005076
definition: A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders.
database_cross_reference: ICD9CM:782.1
has_exact_synonym: Rash
database_cross_reference: UMLS_CUI:C0015230
has_obo_namespace: disease_ontology
has_exact_synonym: exanthema
in_subset: NCIthesaurus
imported from: doid.owl

exanthema subitum
type: Class
subclass of: viral infectious disease
database_cross_reference: ICD10CM:B08.2
database_cross_reference: UMLS_CUI:C0015231
database_cross_reference: ICD9CM:058.1
has_exact_synonym: Roseola Infantum
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:54385001
definition: A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck.
database_cross_reference: MESH:D005077
id: DOID:0050495
has_exact_synonym: Sixth Disease
imported from: doid.owl

adult T-cell leukemia
type: Class
subclass of: T-cell lymphoblastic leukemia/lymphoma
subclass of: viral infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:77430005
has_exact_synonym: Adult T-cell leukemia/lymphoma
database_cross_reference: ICD10CM:C91.5
id: DOID:0050523
database_cross_reference: NCI:C3184
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0023493
database_cross_reference: GARD:13103
definition: A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
database_cross_reference: MESH:D015459
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

maturity-onset diabetes of the young
type: Class
subclass of: autosomal dominant disease
subclass of: diabetes mellitus
database_cross_reference: GARD:3697
database_cross_reference: KEGG:04950
definition: A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.
database_cross_reference: ORDO:552
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:606391
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:0050524
database_cross_reference: ICD10CM:E11.8
has_exact_synonym: MODY
has_exact_synonym: Mason-type diabetes
imported from: doid.owl

nonphotosensitive trichothiodystrophy 4
type: Class
subclass of: autosomal recessive disease
subclass of: nonphotosensitive trichothiodystrophy
has_exact_synonym: TTD4
id: DOID:0050528
has_obo_namespace: disease_ontology
definition: A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene.
has_exact_synonym: AMISH BRITTLE HAIR BRAIN SYNDROME
has_exact_synonym: BIDS syndrome
database_cross_reference: OMIM:234050
has_exact_synonym: HAIR-BRAIN SYNDROME
comment: OMIM mapping confirmed by DO. [SN].
imported from: doid.owl

adult spinal muscular atrophy
type: Class
subclass of: autosomal recessive disease
subclass of: spinal muscular atrophy
database_cross_reference: UMLS_CUI:C1838230
database_cross_reference: MESH:C563948
database_cross_reference: ICD10CM:G12.1
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
definition: A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.
database_cross_reference: ORDO:83420
database_cross_reference: OMIM:271150
id: DOID:0050529
has_exact_synonym: SMA4
has_exact_synonym: SPINAL MUSCULAR ATROPHY, ADULT FORM
has_exact_synonym: SPINAL MUSCULAR ATROPHY, TYPE IV
has_exact_synonym: spinal muscular atrophy 4
imported from: doid.owl

congenital stationary night blindness
type: Class
subclass of: physical disorder
subclass of: hereditary night blindness
database_cross_reference: OMIM:PS310500
database_cross_reference: ORDO:215
database_cross_reference: UMLS_CUI:C1306122
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:0050534
database_cross_reference: SNOMEDCT_US_2020_03_01:193687000
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C537743
definition: A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.
database_cross_reference: ICD10CM:H53.63
database_cross_reference: ICD9CM:368.61
has_exact_synonym: congenital essential nyctalopia
in_subset: DO rare slim
imported from: doid.owl

exudative vitreoretinopathy
type: Class
subclass of: retinal vascular disease
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.
has_exact_synonym: FEVR
database_cross_reference: UMLS_CUI:C0004608
database_cross_reference: ICD10CM:H35.00
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:362.10
id: DOID:0050535
database_cross_reference: SNOMEDCT_US_2020_03_01:193355009
database_cross_reference: ORDO:891
database_cross_reference: OMIM:PS133780
database_cross_reference: GARD:1613
has_exact_synonym: familial exudative vitreoretinopathy
in_subset: DO rare slim
imported from: doid.owl

posterior polar cataract
type: Class
subclass of: cataract
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: CATARACT, POSTERIOR POLAR
id: DOID:0050537
has_obo_namespace: disease_ontology
definition: A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.
imported from: doid.owl

Charcot-Marie-Tooth disease type 1
type: Class
subclass of: Charcot-Marie-Tooth disease
database_cross_reference: GARD:12433
id: DOID:0050538
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
definition: A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
has_exact_synonym: hereditary motor and sensory neuropathy type 1
imported from: doid.owl

Charcot-Marie-Tooth disease type 3
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: Charcot-Marie-Tooth disease
definition: A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
has_exact_synonym: DEJERINE-SOTTAS NEUROPATHY
has_obo_namespace: disease_ontology
has_exact_synonym: DEJERINE-SOTTAS SYNDROME
id: DOID:0050540
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:145900
imported from: doid.owl

hypermethioninemia
type: Class
subclass of: amino acid metabolic disorder
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
has_obo_namespace: disease_ontology
id: DOID:0050544
in_subset: DO rare slim
imported from: doid.owl

visceral heterotaxy
type: Class
subclass of: physical disorder
id: DOID:0050545
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:450
has_obo_namespace: disease_ontology
database_cross_reference: GARD:10875
definition: A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
database_cross_reference: OMIM:613751
database_cross_reference: OMIM:306955
database_cross_reference: OMIM:606325
database_cross_reference: OMIM:614779
database_cross_reference: OMIM:605376
has_exact_synonym: heterotaxia
has_exact_synonym: situs ambiguus
in_subset: DO rare slim
imported from: doid.owl

congenital adrenal insufficiency
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: physical disorder
subclass of: adrenal gland disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:613743
id: DOID:0050546
has_obo_namespace: disease_ontology
has_exact_synonym: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
definition: An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.
has_exact_synonym: P450scc DEFICIENCY
imported from: doid.owl

familial medullary thyroid carcinoma
type: Class
subclass of: thyroid gland medullary carcinoma
definition: A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance.
database_cross_reference: OMIM:155240
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: THYROID CARCINOMA, FAMILIAL MEDULLARY
has_obo_namespace: disease_ontology
id: DOID:0050547
in_subset: DO FlyBase slim
imported from: doid.owl

hereditary sensory neuropathy
type: Class
subclass of: neuropathy
has_obo_namespace: disease_ontology
id: DOID:0050548
database_cross_reference: OMIM:PS162400
definition: A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: familial dysautonomia, type II
has_exact_synonym: hereditary sensory and autonomic neuropathy
in_subset: DO FlyBase slim
imported from: doid.owl

JMP syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
definition: A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32.
has_exact_synonym: JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
database_cross_reference: ORDO:324999
database_cross_reference: OMIM:256040
has_obo_namespace: disease_ontology
database_cross_reference: GARD:10988
id: DOID:0050553
imported from: doid.owl

X-linked sideroblastic anemia with ataxia
type: Class
subclass of: X-linked recessive disease
subclass of: sideroblastic anemia
id: DOID:0050554
database_cross_reference: OMIM:301310
definition: A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.
has_exact_synonym: Anemia sideroblastic and spinocerebellar ataxia
comment: OMIM mapping confirmed by DO. [SN].
has_alternative_id: DOID:0060064
has_exact_synonym: X-linked sideroblastic anaemia and ataxia
has_exact_synonym: X-linked sideroblastic anaemia with ataxia
has_exact_synonym: X-linked sideroblastic anemia and ataxia
has_obo_namespace: disease_ontology
imported from: doid.owl

congenital muscular dystrophy
type: Class
subclass of: physical disorder
subclass of: muscular dystrophy
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:9138
database_cross_reference: ICD9CM:359.0
database_cross_reference: OMIM:254100
id: DOID:0050557
definition: A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:97242
database_cross_reference: SNOMEDCT_US_2020_03_01:193221009
database_cross_reference: UMLS_CUI:C2937300
in_subset: DO rare slim
imported from: doid.owl

Ullrich congenital muscular dystrophy
type: Class
subclass of: congenital muscular dystrophy
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
definition: A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.
database_cross_reference: GARD:4769
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:254090
has_exact_synonym: ULLRICH DISEASE
has_exact_synonym: Ullrich scleroatonic muscular dystrophy
has_obo_namespace: disease_ontology
id: DOID:0050558
imported from: doid.owl

Fukuyama congenital muscular dystrophy
type: Class
subclass of: congenital muscular dystrophy-dystroglycanopathy type A
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
definition: A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
database_cross_reference: OMIM:253800
id: DOID:0050559
database_cross_reference: ORDO:272
database_cross_reference: GARD:6475
imported from: doid.owl

Walker-Warburg syndrome
type: Class
subclass of: congenital muscular dystrophy
subclass of: autosomal recessive disease
database_cross_reference: MESH:D058494
id: DOID:0050560
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:2599
has_exact_synonym: HARD syndrome
has_exact_synonym: cerebroocular dysplasia-muscular dystrophy syndrome
has_obo_namespace: disease_ontology
definition: A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.
in_subset: DO FlyBase slim
imported from: doid.owl

Lennox-Gastaut syndrome
type: Class
subclass of: childhood electroclinical syndrome
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:606369
database_cross_reference: ORDO:2382
definition: A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.
database_cross_reference: GARD:9912
id: DOID:0050561
has_exact_synonym: Lennox syndrome
imported from: doid.owl

nonsyndromic deafness
type: Class
subclass of: auditory system disease
has_obo_namespace: disease_ontology
id: DOID:0050563
definition: An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.
has_exact_synonym: nonsyndromic hearing loss
has_exact_synonym: nonsyndromic hereditary hearing loss
imported from: doid.owl

X-linked nonsyndromic deafness
type: Class
subclass of: nonsyndromic deafness
subclass of: X-linked monogenic disease
database_cross_reference: ORDO:90625
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS304500
database_cross_reference: ICD10CM:H90.3
id: DOID:0050566
comment: OMIM mapping confirmed by DO. [SN].
definition: A nonsyndromic deafness characterized by an X-linked inheritance mode.
has_exact_synonym: X-linked deafness
in_subset: DO rare slim
imported from: doid.owl

orofacial cleft
type: Class
subclass of: physical disorder
subclass of: syndrome
database_cross_reference: OMIM:PS119530
definition: A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:0050567
has_obo_namespace: disease_ontology
imported from: doid.owl

spondylocostal dysostosis
type: Class
subclass of: spinal disease
subclass of: dysostosis
database_cross_reference: GARD:12174
database_cross_reference: OMIM:122600
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:609813
definition: A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.
database_cross_reference: OMIM:608681
database_cross_reference: OMIM:277300
database_cross_reference: ORDO:2311
database_cross_reference: GARD:6798
database_cross_reference: OMIM:613686
database_cross_reference: ORDO:1797
id: DOID:0050568
has_obo_namespace: disease_ontology
has_exact_synonym: Jarcho-Levin syndrome
has_exact_synonym: spondylocostal dysostosis, autosomal recessive 3
has_exact_synonym: spondylothoracic dysostosis
has_exact_synonym: spondylothoracic dysplasia
imported from: doid.owl

Seckel syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: ORDO:808
database_cross_reference: OMIM:PS210600
definition: A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
database_cross_reference: ICD10CM:Q87.1
has_obo_namespace: disease_ontology
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:0050569
database_cross_reference: GARD:8562
has_exact_synonym: Harper's syndrome
has_exact_synonym: Virchow-Seckel dwarfism
has_exact_synonym: bird-headed dwarfism
has_exact_synonym: microcephalic primordial dwarfism
in_subset: DO rare slim
imported from: doid.owl

cone-rod dystrophy
type: Class
subclass of: monogenic disease
subclass of: retinal degeneration
has_obo_namespace: disease_ontology
id: DOID:0050572
definition: A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:10790
database_cross_reference: ORDO:1872
database_cross_reference: ICD10CM:H35.5
has_exact_synonym: cone-rod retinal dystrophy
in_subset: DO rare slim
imported from: doid.owl

2-hydroxyglutaric aciduria
type: Class
subclass of: amino acid metabolic disorder
database_cross_reference: GARD:10761
has_obo_namespace: disease_ontology
definition: An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
id: DOID:0050573
imported from: doid.owl

L-2-hydroxyglutaric aciduria
type: Class
subclass of: 2-hydroxyglutaric aciduria
subclass of: cerebellar disease
database_cross_reference: OMIM:236792
definition: An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
has_exact_synonym: L-2-HYDROXYGLUTARIC ACIDEMIA
database_cross_reference: ORDO:79314
has_obo_namespace: disease_ontology
database_cross_reference: GARD:10472
id: DOID:0050574
imported from: doid.owl

D-2-hydroxyglutaric aciduria
type: Class
subclass of: 2-hydroxyglutaric aciduria
database_cross_reference: OMIM:PS600721
id: DOID:0050575
database_cross_reference: GARD:5661
has_obo_namespace: disease_ontology
definition: An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
in_subset: DO FlyBase slim
imported from: doid.owl

cranioectodermal dysplasia
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
id: DOID:0050577
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS218330
definition: A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Levin syndrome
has_exact_synonym: Sensenbrenner syndrome
imported from: doid.owl

occult macular dystrophy
type: Class
subclass of: macular degeneration
definition: A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.
id: DOID:0050578
database_cross_reference: OMIM:613587
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
imported from: doid.owl

brachydactyly
type: Class
subclass of: dysostosis
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A dysostosis characterized by short fingers and toes.
database_cross_reference: GARD:11913
database_cross_reference: ORDO:294937
id: DOID:0050581
has_obo_namespace: disease_ontology
in_subset: DO rare slim
imported from: doid.owl

trichotillomania
type: Class
subclass of: impulse control disorder
definition: An impulse control disorder that involves the uncontrollable plucking of ones hair.
database_cross_reference: GARD:7803
database_cross_reference: OMIM:613229
database_cross_reference: MESH:D014256
id: DOID:0050587
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
imported from: doid.owl

muscular dystrophy-dystroglycanopathy
type: Class
subclass of: congenital muscular dystrophy
subclass of: autosomal recessive disease
id: DOID:0050588
database_cross_reference: OMIM:613155
has_exact_synonym: CMD due to dystroglycanopathy
database_cross_reference: OMIM:613156
has_obo_namespace: disease_ontology
definition: A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
comment: Xref MGI.
database_cross_reference: OMIM:615351
database_cross_reference: OMIM:613151
database_cross_reference: OMIM:613152
database_cross_reference: OMIM:616094
database_cross_reference: ORDO:370953
database_cross_reference: OMIM:PS613155
database_cross_reference: ICD10CM:G71.2
in_subset: DO rare slim
imported from: doid.owl

inflammatory bowel disease
type: Class
subclass of: intestinal disease
database_cross_reference: MESH:D015212
id: DOID:0050589
database_cross_reference: KEGG:05321
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:PS266600
has_obo_namespace: disease_ontology
definition: An intestinal disease characterized by inflammation located in all parts of digestive tract.
database_cross_reference: NCI:C3138
database_cross_reference: UMLS_CUI:C0021390
database_cross_reference: EFO:0003767
database_cross_reference: SNOMEDCT_US_2020_03_01:155759008
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

severe congenital neutropenia
type: Class
subclass of: physical disorder
subclass of: neutropenia
has_obo_namespace: disease_ontology
definition: A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
database_cross_reference: OMIM:PS202700
database_cross_reference: ICD10CM:D70
database_cross_reference: GARD:13592
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:42738
id: DOID:0050590
in_subset: DO rare slim
imported from: doid.owl

tooth agenesis
type: Class
subclass of: tooth disease
database_cross_reference: ICD9CM:520.0
database_cross_reference: ICD10CM:K00.0
definition: A tooth disease characterized by failure to develop on or more missing teeth.
database_cross_reference: OMIM:313500
database_cross_reference: OMIM:150400
comment: Xref MGI.
id: DOID:0050591
database_cross_reference: OMIM:604625
database_cross_reference: SNOMEDCT_US_2020_03_01:234951001
database_cross_reference: ORDO:99798
database_cross_reference: OMIM:610926
database_cross_reference: UMLS_CUI:C0399352
database_cross_reference: MESH:D000848
database_cross_reference: OMIM:106600
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:2227
database_cross_reference: OMIM:602639
has_exact_synonym: familial tooth agenesis
has_exact_synonym: hypodontia
has_exact_synonym: oligodontia
has_exact_synonym: selective tooth agenesis
in_subset: DO rare slim
imported from: doid.owl

asphyxiating thoracic dystrophy
type: Class
subclass of: bone development disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q77.2
database_cross_reference: OMIM:PS208500
definition: A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
has_obo_namespace: disease_ontology
id: DOID:0050592
has_exact_synonym: Jeune syndrome
database_cross_reference: ORDO:474
has_exact_synonym: short-rib thoracic dysplasia with or without polydactyly
has_exact_synonym: thoracic pelvic phalangeal dystrophy
imported from: doid.owl

taeniasis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: ICD10CM:B68.1
definition: A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat.
has_alternative_id: DOID:10076
has_obo_namespace: disease_ontology
has_related_synonym: Beef tapeworm infection
database_cross_reference: UMLS_CUI:C0152073
database_cross_reference: SNOMEDCT_US_2020_03_01:69163003
database_cross_reference: ICD9CM:123.2
id: DOID:0050596
has_related_synonym: Infection by Taeniarhynchus saginatus
has_related_synonym: Taenia saginata infectious disease
imported from: doid.owl

intestinal schistosomiasis
type: Class
subclass of: schistosomiasis
subclass of: intestinal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:750009
database_cross_reference: UMLS_CUI:C0036330
has_alternative_id: DOID:13721
database_cross_reference: SNOMEDCT_US_2020_03_01:52179003
database_cross_reference: OMIM:181460
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:120.1
database_cross_reference: ICD9CM:120.2
database_cross_reference: ORDO:1247
database_cross_reference: ICD10CM:B65.2
database_cross_reference: ICD10CM:B65.1
has_exact_synonym: Katayama fever
database_cross_reference: MESH:D012555
database_cross_reference: UMLS_CUI:C0036329
database_cross_reference: MESH:D012554
definition: A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
database_cross_reference: UMLS_CUI:C0276932
comment: Xref MGI.
database_cross_reference: NCI:C35002
database_cross_reference: NCI:C35364
database_cross_reference: NCI:C35001
id: DOID:0050597
has_alternative_id: DOID:13692
database_cross_reference: SNOMEDCT_US_2020_03_01:187114003
has_alternative_id: DOID:3468
has_exact_synonym: Schistosoma japonicum infection
has_exact_synonym: Schistosoma mansoni infectious disease
has_exact_synonym: schistosomiasis japonica
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

extrapulmonary tuberculosis
type: Class
subclass of: tuberculosis
definition: A tuberculosis that occurs at body sites other than the lung.
id: DOID:0050598
has_obo_namespace: disease_ontology
imported from: doid.owl

abdominal tuberculosis
type: Class
subclass of: extrapulmonary tuberculosis
id: DOID:0050599
has_obo_namespace: disease_ontology
definition: An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas.
imported from: doid.owl

ABCD syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: OMIM:600501
comment: OMIM mapping confirmed by DO. [SN].
definition: A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB).
id: DOID:0050600
has_exact_synonym: albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
has_obo_namespace: disease_ontology
has_exact_synonym: ABCDS
imported from: doid.owl

ADULT syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
definition: A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.
id: DOID:0050601
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:103285
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:384
has_exact_synonym: acro-dermato-ungual-lacrimal-tooth syndrome
imported from: doid.owl

triple-A syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: OMIM:231550
has_exact_synonym: AAAS
has_exact_synonym: Allgrove Syndrome
has_obo_namespace: disease_ontology
id: DOID:0050602
comment: OMIM mapping confirmed by DO. [SN].
definition: A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system.
has_exact_synonym: Achalasia-Addisonianism-Alacrimia syndrome
database_cross_reference: GARD:457
imported from: doid.owl

acheiropody
type: Class
subclass of: autosomal recessive disease
subclass of: osteochondrodysplasia
has_exact_synonym: Acheiropodia
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:376
has_obo_namespace: disease_ontology
definition: An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.
id: DOID:0050603
has_exact_synonym: Horn-Kolb Syndrome
database_cross_reference: OMIM:200500
imported from: doid.owl

acrodermatitis enteropathica
type: Class
subclass of: genetic disease
subclass of: metal metabolism disorder
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:201100
database_cross_reference: GARD:5723
id: DOID:0050605
definition: A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency.
imported from: doid.owl

acrokeratosis verruciformis
type: Class
subclass of: autosomal dominant disease
subclass of: keratosis
has_obo_namespace: disease_ontology
id: DOID:0050606
database_cross_reference: OMIM:101900
comment: OMIM mapping confirmed by DO. [SN].
definition: A keratosis that has_material_basis_in mutations in the ATP2A2 gene.
has_exact_synonym: Acrokeratosis verruciformis of Hopf
has_exact_synonym: Hopf disease
imported from: doid.owl

respiratory system cancer
type: Class
subclass of: organ system cancer
subclass of: respiratory system disease
has_obo_namespace: disease_ontology
definition: An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
id: DOID:0050615
imported from: doid.owl

paranasal sinus cancer
type: Class
subclass of: respiratory system cancer
subclass of: paranasal sinus disease
database_cross_reference: UMLS_CUI:C1335340
id: DOID:0050619
definition: A respiratory system cancer that is located_in the paranasal sinuses.
has_alternative_id: DOID:2767
has_alternative_id: DOID:2765
has_alternative_id: DOID:4689
database_cross_reference: MESH:D010255
database_cross_reference: NCI:C6019
database_cross_reference: NCI:C6018
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6017
has_alternative_id: DOID:2442
has_alternative_id: DOID:1354
database_cross_reference: NCI:C6014
database_cross_reference: UMLS_CUI:C0280334
database_cross_reference: NCI:C8193
database_cross_reference: UMLS_CUI:C0854995
database_cross_reference: UMLS_CUI:C1335336
database_cross_reference: UMLS_CUI:C1335337
has_exact_synonym: Epidermoid carcinoma of the paranasal sinus
has_exact_synonym: Mucoepidermoid carcinoma of Accessory sinus
has_exact_synonym: adenoid cystic carcinoma of Accessory sinus
has_related_synonym: adenoid cystic carcinoma of paranasal sinus
has_exact_synonym: paranasal sinus adenocarcinoma
has_exact_synonym: paranasal sinus adenoid cystic carcinoma
has_exact_synonym: paranasal sinus mucoepidermoid carcinoma
has_exact_synonym: paranasal sinus squamous cell carcinoma
has_related_synonym: squamous cell carcinoma of paranasal sinus
in_subset: NCIthesaurus
imported from: doid.owl

respiratory system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: respiratory system disease
id: DOID:0050621
has_obo_namespace: disease_ontology
definition: An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm.
imported from: doid.owl

reproductive organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: reproductive system disease
definition: An organ system benign neoplasm that is located_in reproductive system organs.
id: DOID:0050622
has_obo_namespace: disease_ontology
imported from: doid.owl

bladder benign neoplasm
type: Class
subclass of: bladder disease
subclass of: urinary system benign neoplasm
definition: A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas.
has_obo_namespace: disease_ontology
id: DOID:0050623
imported from: doid.owl

gastrointestinal system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: gastrointestinal system disease
id: DOID:0050624
has_obo_namespace: disease_ontology
definition: An organ system benign neoplasm located_in gastrointestinal tract organs.
imported from: doid.owl

biliary tract benign neoplasm
type: Class
subclass of: hepatobiliary benign neoplasm
subclass of: biliary tract disease
definition: A hepatobiliary benign neoplasm located_in the biliary tract.
database_cross_reference: SNOMEDCT_US_2020_03_01:126855001
has_alternative_id: DOID:4609
database_cross_reference: UMLS_CUI:C0345913
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4441
id: DOID:0050625
has_exact_synonym: extrahepatic bile duct neoplasm
has_exact_synonym: neoplasm of extrahepatic bile ducts
has_exact_synonym: tumor of the extrahepatic bile duct
in_subset: NCIthesaurus
imported from: doid.owl

Aicardi-Goutieres syndrome
type: Class
subclass of: autosomal genetic disease
subclass of: syndrome
id: DOID:0050629
database_cross_reference: OMIM:615846
database_cross_reference: OMIM:612952
database_cross_reference: ORDO:51
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:610181
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:615010
database_cross_reference: ICD10CM:G31.8
definition: A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
database_cross_reference: OMIM:225750
database_cross_reference: GARD:575
database_cross_reference: OMIM:610333
database_cross_reference: OMIM:610329
has_exact_synonym: Cree encephalitis
in_subset: DO rare slim
imported from: doid.owl

Aland Island eye disease
type: Class
subclass of: X-linked recessive disease
subclass of: eye disease
definition: An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.
id: DOID:0050630
has_exact_synonym: Forsius-Eriksson syndrome
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:300600
has_exact_synonym: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
database_cross_reference: MESH:C562664
database_cross_reference: GARD:10574
imported from: doid.owl

Allan-Herndon-Dudley syndrome
type: Class
subclass of: X-linked recessive disease
subclass of: syndrome
definition: A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.
has_exact_synonym: AHDS
has_exact_synonym: ALLAN-HERNDON SYNDROME
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C537047
database_cross_reference: GARD:5617
database_cross_reference: ORDO:59
database_cross_reference: OMIM:300523
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:0050631
imported from: doid.owl

oculocutaneous albinism
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: ICD10CM:E70.3
definition: A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.
database_cross_reference: ORDO:55
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D016115
id: DOID:0050632
database_cross_reference: OMIM:PS203100
has_obo_namespace: disease_ontology
database_cross_reference: GARD:10958
in_subset: DO rare slim
imported from: doid.owl

ocular albinism
type: Class
subclass of: eye disease
database_cross_reference: OMIM:300500
database_cross_reference: MESH:D016117
id: DOID:0050633
definition: An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.
has_obo_namespace: disease_ontology
imported from: doid.owl

primary cutaneous amyloidosis
type: Class
subclass of: skin disease
subclass of: amyloidosis
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:105250
definition: An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
id: DOID:0050639
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:137807
database_cross_reference: GARD:132
database_cross_reference: OMIM:613955
has_exact_synonym: PCA
has_exact_synonym: familial primary localized cutaneous amyloidosis
in_subset: DO rare slim
imported from: doid.owl

arterial calcification of infancy
type: Class
subclass of: artery disease
database_cross_reference: MESH:C537440
definition: A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
id: DOID:0050644
database_cross_reference: GARD:8380
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:51608
database_cross_reference: OMIM:614473
database_cross_reference: OMIM:208000
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: generalized arterial calcification of infancy
has_exact_synonym: idiopathic infantile arterial calcification
has_exact_synonym: infantile arteriosclerosis
in_subset: DO rare slim
imported from: doid.owl

arterial tortuosity syndrome
type: Class
subclass of: connective tissue disease
has_obo_namespace: disease_ontology
database_cross_reference: GARD:774
database_cross_reference: MESH:C565942
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:208050
definition: A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
id: DOID:0050645
imported from: doid.owl

distal arthrogryposis
type: Class
subclass of: muscle tissue disease
database_cross_reference: OMIM:614335
definition: A muscle tissue disease characterized by congenital joint contractures of hand and feet.
database_cross_reference: OMIM:121070
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:615065
database_cross_reference: OMIM:121050
database_cross_reference: OMIM:158300
database_cross_reference: GARD:786
database_cross_reference: OMIM:193700
database_cross_reference: OMIM:609128
database_cross_reference: ORDO:97120
database_cross_reference: OMIM:114300
database_cross_reference: OMIM:601680
id: DOID:0050646
database_cross_reference: OMIM:108120
database_cross_reference: OMIM:108145
database_cross_reference: OMIM:108200
has_exact_synonym: Arthrogryposis Multiplex Congenita
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:1147
has_exact_synonym: Freeman-Sheldon syndrome
database_cross_reference: OMIM:187370
in_subset: DO rare slim
imported from: doid.owl

Arts syndrome
type: Class
subclass of: syndromic X-linked intellectual disability
comment: OMIM mapping confirmed by DO. [SN].
definition: An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.
database_cross_reference: ORDO:1187
has_exact_synonym: ARTS
database_cross_reference: GARD:8756
has_exact_synonym: Lethal ataxia with deafness and optic atrophy
database_cross_reference: MESH:C535388
has_exact_synonym: MRXSARTS
database_cross_reference: OMIM:301835
database_cross_reference: UMLS_CUI:C0796028
database_cross_reference: SNOMEDCT_US_2020_03_01:702441001
has_obo_namespace: disease_ontology
id: DOID:0050647
has_exact_synonym: MRXS18
has_exact_synonym: fatal X-linked ataxia with deafness and loss of vision
has_exact_synonym: syndromic X-linked mental retardation 18
has_exact_synonym: syndromic X-linked mental retardation Arts type
imported from: doid.owl

atelosteogenesis
type: Class
subclass of: spinal disease
subclass of: osteochondrodysplasia
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:256050
definition: An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
database_cross_reference: OMIM:108721
database_cross_reference: OMIM:108720
id: DOID:0050648
has_obo_namespace: disease_ontology
imported from: doid.owl

atransferrinemia
type: Class
subclass of: autosomal recessive disease
subclass of: metal metabolism disorder
database_cross_reference: OMIM:209300
has_obo_namespace: disease_ontology
definition: A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin on chromosome 3q22.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:9595
database_cross_reference: ORDO:1195
id: DOID:0050649
database_cross_reference: NCI:C125693
has_exact_synonym: familial hypotransferrinemia
in_subset: NCIthesaurus
imported from: doid.owl

familial atrial fibrillation
type: Class
subclass of: atrial fibrillation
database_cross_reference: OMIM:608988
database_cross_reference: OMIM:607554
database_cross_reference: OMIM:612201
database_cross_reference: OMIM:614049
database_cross_reference: OMIM:608583
database_cross_reference: OMIM:613055
database_cross_reference: OMIM:614022
database_cross_reference: OMIM:611493
has_exact_synonym: ATFB
database_cross_reference: OMIM:612240
database_cross_reference: OMIM:615377
database_cross_reference: OMIM:611494
database_cross_reference: OMIM:615378
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:615770
database_cross_reference: OMIM:614050
definition: An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
database_cross_reference: OMIM:PS608583
id: DOID:0050650
comment: Xref MGI.
database_cross_reference: ORDO:334
database_cross_reference: OMIM:613980
database_cross_reference: GARD:9740
in_subset: DO rare slim
imported from: doid.owl

atrioventricular septal defect
type: Class
subclass of: heart septal defect
database_cross_reference: OMIM:614430
database_cross_reference: OMIM:614474
database_cross_reference: MESH:D004694
database_cross_reference: OMIM:606215
database_cross_reference: ORDO:98722
definition: A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
id: DOID:0050651
database_cross_reference: GARD:802
database_cross_reference: ICD10CM:Q21.2
database_cross_reference: SNOMEDCT_US_2020_03_01:204322008
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: AVCD
database_cross_reference: OMIM:600309
has_obo_namespace: disease_ontology
has_exact_synonym: AVSD
has_exact_synonym: ECD
database_cross_reference: ICD9CM:745.6
database_cross_reference: UMLS_CUI:C0014116
has_exact_synonym: atrioventricular canal defect
has_exact_synonym: endocardial cushion defect
in_subset: DO rare slim
imported from: doid.owl

Baller-Gerold syndrome
type: Class
subclass of: synostosis
definition: A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
database_cross_reference: OMIM:218600
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:1223
database_cross_reference: GARD:1602
database_cross_reference: MESH:C536788
has_obo_namespace: disease_ontology
id: DOID:0050654
database_cross_reference: SNOMEDCT_US_2020_03_01:77608001
database_cross_reference: UMLS_CUI:C0265308
in_subset: DO rare slim
imported from: doid.owl

Bamforth-Lazarus syndrome
type: Class
subclass of: hypothyroidism
id: DOID:0050655
definition: A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22.
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:241850
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
imported from: doid.owl

pseudo-TORCH syndrome 1
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: GARD:12426
has_exact_synonym: BLC-PMG
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:251290
id: DOID:0050656
definition: A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in OCLN on chromosome 5q13.2.
has_exact_synonym: BLCPMG
has_exact_synonym: Baraitser-Brett-Piesowicz syndrome
has_exact_synonym: Baraitser-Reardon syndrome
database_cross_reference: ORDO:1229
has_exact_synonym: PTORCH1
has_exact_synonym: band-like calcification with simplified gyration and polymicrogyria
has_exact_synonym: bilateral band-like calcification with polymicrogyria
has_exact_synonym: microcephaly-intracranial calcification-intellectual disability syndrome
imported from: doid.owl

Bannayan-Riley-Ruvalcaba syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: penile disease
subclass of: syndrome
database_cross_reference: NCI:C3939
id: DOID:0050657
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:Q87.89
definition: A syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
database_cross_reference: GARD:5887
database_cross_reference: MESH:D006223
database_cross_reference: ORDO:109
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:158350
has_exact_synonym: Bannayan-Zonana syndrome
has_exact_synonym: Riley-Smith syndrome
has_exact_synonym: Ruvalcaba-Myhre-Smith syndrome
in_subset: NCIthesaurus
imported from: doid.owl

Bart-Pumphrey syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
definition: A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:149200
id: DOID:0050658
has_exact_synonym: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
imported from: doid.owl

biotin-responsive basal ganglia disease
type: Class
subclass of: basal ganglia disease
database_cross_reference: MESH:C537658
database_cross_reference: OMIM:607483
has_obo_namespace: disease_ontology
id: DOID:0050659
comment: OMIM mapping confirmed by DO. [SN].
definition: A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.
imported from: doid.owl

Beare-Stevenson cutis gyrata syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
id: DOID:0050660
definition: A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:123790
has_obo_namespace: disease_ontology
database_cross_reference: GARD:332
imported from: doid.owl

vitelliform macular dystrophy
type: Class
subclass of: macular degeneration
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:1243
database_cross_reference: GARD:10120
database_cross_reference: OMIM:616151
definition: A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss.
id: DOID:0050661
database_cross_reference: ORDO:99000
has_exact_synonym: Best disease
database_cross_reference: OMIM:608161
database_cross_reference: MESH:D057826
database_cross_reference: ICD10CM:H35.5
database_cross_reference: OMIM:153700
database_cross_reference: OMIM:616152
database_cross_reference: GARD:182
has_exact_synonym: Best macular dystrophy
database_cross_reference: OMIM:153840
has_obo_namespace: disease_ontology
has_exact_synonym: juvenile-onset vitelliform macular dystrophy
in_subset: DO rare slim
imported from: doid.owl

bestrophinopathy
type: Class
subclass of: macular degeneration
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
definition: A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.
database_cross_reference: MESH:C567518
database_cross_reference: OMIM:611809
id: DOID:0050662
has_exact_synonym: autosomal recessive bestrophinopathy
imported from: doid.owl

Bethlem myopathy
type: Class
subclass of: congenital muscular dystrophy
definition: A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:873
id: DOID:0050663
database_cross_reference: OMIM:158810
has_exact_synonym: benign congenital muscular dystrophy
has_obo_namespace: disease_ontology
imported from: doid.owl

fetal alcohol syndrome
type: Class
subclass of: fetal alcohol spectrum disorder
id: DOID:0050665
has_obo_namespace: disease_ontology
definition: A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.
imported from: doid.owl

partial fetal alcohol syndrome
type: Class
subclass of: fetal alcohol spectrum disorder
definition: A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
id: DOID:0050666
has_obo_namespace: disease_ontology
imported from: doid.owl

alcohol-related neurodevelopmental disorder
type: Class
subclass of: fetal alcohol spectrum disorder
has_obo_namespace: disease_ontology
definition: A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.
id: DOID:0050667
has_exact_synonym: ARND
has_exact_synonym: static encephalopathy
imported from: doid.owl

spastic cerebral palsy
type: Class
subclass of: cerebral palsy
definition: A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.
has_obo_namespace: disease_ontology
id: DOID:0050669
imported from: doid.owl

ataxic cerebral palsy
type: Class
subclass of: cerebral palsy
database_cross_reference: GARD:10451
id: DOID:0050670
definition: A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:605388
has_exact_synonym: hypotonic cerebral palsy
imported from: doid.owl

congenital bile acid synthesis defect
type: Class
subclass of: physical disorder
subclass of: steroid inherited metabolic disorder
id: DOID:0050674
definition: A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
database_cross_reference: ICD10CM:K76.8
has_exact_synonym: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
has_exact_synonym: cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
has_obo_namespace: disease_ontology
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: CBA
in_subset: DO rare slim
imported from: doid.owl

Birk-Barel syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: MESH:C567357
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:612292
definition: A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.
has_exact_synonym: Birk-Barel mental retardation dysmorphism syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:10358
id: DOID:0050675
imported from: doid.owl

Birt-Hogg-Dube syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: skin disease
comment: OMIM mapping confirmed by DO. [SN].
definition: A skin disease that is characterized by the development of skin papules on the head, face and upper torso, has_material_basis_in heterozygous mutation in the gene encoding folliculin on chromosome 17p11.
database_cross_reference: OMIM:135150
database_cross_reference: GARD:2322
has_obo_namespace: disease_ontology
id: DOID:0050676
database_cross_reference: MESH:D058249
in_subset: DO FlyBase slim
imported from: doid.owl

Blau syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C116794
id: DOID:0050678
definition: A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
has_exact_synonym: ARTHROCUTANEOUVEAL GRANULOMATOSIS
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: BLAUS
database_cross_reference: GARD:304
has_exact_synonym: Jabs syndrome
database_cross_reference: OMIM:186580
in_subset: NCIthesaurus
imported from: doid.owl

blue cone monochromacy
type: Class
subclass of: X-linked recessive disease
subclass of: achromatopsia
database_cross_reference: OMIM:303700
id: DOID:0050679
database_cross_reference: GARD:917
definition: An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
imported from: doid.owl

Boomerang dysplasia
type: Class
subclass of: osteochondrodysplasia
database_cross_reference: OMIM:112310
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:0050680
has_obo_namespace: disease_ontology
database_cross_reference: GARD:933
definition: An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14.
imported from: doid.owl

Borjeson-Forssman-Lehmann syndrome
type: Class
subclass of: syndromic X-linked intellectual disability
subclass of: X-linked recessive disease
has_exact_synonym: Borjeson syndrome
database_cross_reference: MESH:C536575
has_obo_namespace: disease_ontology
has_exact_synonym: BFLS
database_cross_reference: GARD:936
database_cross_reference: SNOMEDCT_US_2020_03_01:21634003
database_cross_reference: OMIM:301900
definition: An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
has_exact_synonym: BORJ
has_exact_synonym: MRXSBFL
database_cross_reference: ORDO:127
database_cross_reference: NCI:C157122
database_cross_reference: UMLS_CUI:C0265339
id: DOID:0050681
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: intellectual deficiency-epilepsy-endocrine disorders syndrome
has_exact_synonym: mental retardation, epilepsy, and endocrine disorder
has_exact_synonym: syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
in_subset: DO rare slim
imported from: doid.owl

Bowen-Conradi syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
has_obo_namespace: disease_ontology
definition: A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.
has_exact_synonym: BWCNS
has_exact_synonym: Bowen Hutterite syndrome
has_exact_synonym: Bowen-Conradi Hutterite syndrome
database_cross_reference: MESH:C537081
database_cross_reference: UMLS_CUI:C1859405
database_cross_reference: ORDO:1270
id: DOID:0050684
database_cross_reference: OMIM:211180
database_cross_reference: SNOMEDCT_US_2020_03_01:711153001
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:5950
imported from: doid.owl

small cell carcinoma
type: Class
subclass of: carcinoma
creation_date: 2011-06-13T01:25:14Z
id: DOID:0050685
definition: A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
database_cross_reference: SNOMEDCT_US_2020_03_01:5958006
created_by: snadendla
has_alternative_id: DOID:7137
database_cross_reference: NCI:C4099
has_obo_namespace: disease_ontology
has_exact_synonym: Small cell carcinoma - intermediate cell
has_exact_synonym: Small cell carcinoma, intermediate cell
database_cross_reference: UMLS_CUI:C0334239
has_exact_synonym: intermediate cell small cell carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

organ system cancer
type: Class
subclass of: cancer
definition: A cancer that is classified based on the organ it starts in.
has_obo_namespace: disease_ontology
creation_date: 2011-06-13T03:28:33Z
created_by: snadendla
database_cross_reference: MESH:D009371
id: DOID:0050686
imported from: doid.owl

cell type cancer
type: Class
subclass of: cancer
has_obo_namespace: disease_ontology
definition: A cancer that is classified by the type of cell from which it is derived.
id: DOID:0050687
created_by: snadendla
creation_date: 2011-06-13T03:28:50Z
in_subset: DO MGI slim
imported from: doid.owl

anal canal cancer
type: Class
subclass of: large intestine cancer
id: DOID:0050688
creation_date: 2011-06-14T01:34:36Z
definition: A large intestine cancer that is located_in the terminal part of the large intestine.
has_obo_namespace: disease_ontology
created_by: snadendla
imported from: doid.owl

brachydactyly-syndactyly syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
created_by: snadendla
has_obo_namespace: disease_ontology
id: DOID:0050689
creation_date: 2011-06-17T03:55:47Z
database_cross_reference: MESH:C565193
definition: A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:610713
imported from: doid.owl

brachyolmia
type: Class
subclass of: osteochondrodysplasia
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:0050690
database_cross_reference: ORDO:1293
database_cross_reference: OMIM:113500
database_cross_reference: OMIM:271630
created_by: snadendla
database_cross_reference: OMIM:613678
database_cross_reference: GARD:10903
creation_date: 2011-06-17T04:00:27Z
database_cross_reference: OMIM:271530
definition: An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
has_obo_namespace: disease_ontology
has_exact_synonym: brachyrachia
in_subset: DO rare slim
imported from: doid.owl

branchiooculofacial syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: OMIM:113620
has_obo_namespace: disease_ontology
id: DOID:0050691
created_by: snadendla
definition: A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
creation_date: 2011-06-17T04:10:18Z
database_cross_reference: GARD:3212
comment: OMIM mapping confirmed by DO. [SN].
imported from: doid.owl

Brooke-Spiegler syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: skin disease
database_cross_reference: OMIM:605041
definition: A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.
database_cross_reference: SNOMEDCT_US_2020_03_01:703531009
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:10179
created_by: snadendla
database_cross_reference: ORDO:79493
has_obo_namespace: disease_ontology
creation_date: 2011-06-17T04:34:10Z
id: DOID:0050693
has_exact_synonym: BRSS
has_exact_synonym: BSS
has_exact_synonym: CYLD cutaneous syndrome
has_exact_synonym: SBS
has_exact_synonym: Spiegler-Brooke Syndrome
database_cross_reference: UMLS_CUI:C1857941
imported from: doid.owl

Brown-Vialetto-Van Laere syndrome
type: Class
subclass of: syndrome
database_cross_reference: OMIM:PS211530
comment: OMIM mapping confirmed by DO. [SN].
created_by: snadendla
id: DOID:0050694
creation_date: 2011-06-17T04:38:07Z
definition: A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves.
database_cross_reference: MESH:C537111
has_obo_namespace: disease_ontology
imported from: doid.owl

fetal alcohol spectrum disorder
type: Class
subclass of: specific developmental disorder
id: DOID:0050696
creation_date: 2011-12-01T01:01:25Z
definition: A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.
created_by: lschriml
has_obo_namespace: disease_ontology
imported from: doid.owl

chorioamnionitis
type: Class
subclass of: placenta disease
definition: A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
created_by: lschriml
database_cross_reference: MESH:D002821
has_obo_namespace: disease_ontology
creation_date: 2012-01-03T01:13:08Z
id: DOID:0050697
imported from: doid.owl

funisitis
type: Class
subclass of: connective tissue disease
has_obo_namespace: disease_ontology
id: DOID:0050698
definition: A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
creation_date: 2012-01-03T01:18:35Z
created_by: lschriml
imported from: doid.owl

cardiomyopathy
type: Class
subclass of: heart disease
database_cross_reference: NCI:C53654
database_cross_reference: NCI:C34830
database_cross_reference: UMLS_CUI:C0036529
definition: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
comment: MESH:D009202 added from NeuroDevNet [WAK].
creation_date: 2012-01-03T02:54:11Z
database_cross_reference: SNOMEDCT_US_2020_03_01:89600009
database_cross_reference: MESH:D009202
has_exact_synonym: Cardiomyopathies
database_cross_reference: UMLS_CUI:C0878544
database_cross_reference: UMLS_CUI:C0033141
database_cross_reference: SNOMEDCT_US_2020_03_01:89461002
database_cross_reference: SNOMEDCT_US_2020_03_01:266301006
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:425
database_cross_reference: ICD10CM:I42
created_by: lschriml
database_cross_reference: ICD9CM:425.9
id: DOID:0050700
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

electroclinical syndrome
type: Class
subclass of: epilepsy
id: DOID:0050701
created_by: lschriml
definition: An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
creation_date: 2012-04-11T11:42:46Z
has_obo_namespace: disease_ontology
has_exact_synonym: electro-clinical syndrome
imported from: doid.owl

neonatal period electroclinical syndrome
type: Class
subclass of: electroclinical syndrome
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
created_by: lschriml
comment: JA:Epilepsy Genetics Kiel
definition: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
id: DOID:0050702
imported from: doid.owl

infancy electroclinical syndrome
type: Class
subclass of: electroclinical syndrome
created_by: lschriml
comment: JA:Epilepsy Genetics Kiel
definition: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
creation_date: 2012-04-11T11:48:18Z
id: DOID:0050703
has_obo_namespace: disease_ontology
imported from: doid.owl

childhood electroclinical syndrome
type: Class
subclass of: absence epilepsy
id: DOID:0050704
definition: An electroclinical syndrome with onset in childhood between one and 12 years of age.
creation_date: 2012-04-11T11:48:18Z
has_obo_namespace: disease_ontology
created_by: lschriml
comment: JA:Epilepsy Genetics Kiel
imported from: doid.owl

adolescence-adult electroclinical syndrome
type: Class
subclass of: absence epilepsy
has_obo_namespace: disease_ontology
creation_date: 2012-04-11T11:48:18Z
definition: An electroclinical syndrome with onset in adolescence and adulthood.
created_by: lschriml
id: DOID:0050705
imported from: doid.owl

variable age at onset electroclinical syndrome
type: Class
subclass of: electroclinical syndrome
id: DOID:0050706
created_by: lschriml
creation_date: 2012-04-11T11:48:18Z
definition: An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration.
has_obo_namespace: disease_ontology
imported from: doid.owl

early onset absence epilepsy
type: Class
subclass of: childhood electroclinical syndrome
created_by: lschriml
definition: A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
id: DOID:0050708
has_obo_namespace: disease_ontology
comment: JA:Epilepsy Genetics Kiel
creation_date: 2012-04-11T02:29:04Z
imported from: doid.owl

early infantile epileptic encephalopathy
type: Class
subclass of: neonatal period electroclinical syndrome
definition: A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
database_cross_reference: GARD:9255
creation_date: 2012-05-10T10:02:58Z
id: DOID:0050709
has_exact_synonym: Early Infantile Epileptic Encephalopathy with Burst-Suppression
database_cross_reference: OMIM:PS308350
database_cross_reference: ORDO:1934
has_obo_namespace: disease_ontology
has_alternative_id: DOID:2481
created_by: lschriml
imported from: doid.owl

3-Methylcrotonyl-CoA carboxylase deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: muscular disease
subclass of: amino acid metabolic disorder
has_exact_synonym: BMCC deficiency
id: DOID:0050710
database_cross_reference: ORDO:6
has_obo_namespace: disease_ontology
creation_date: 2012-05-22T10:32:44Z
has_exact_synonym: 3-Methylcrotonylglycinuria
has_exact_synonym: 3MCC deficiency
database_cross_reference: OMIM:PS210200
created_by: lschriml
definition: An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
database_cross_reference: GARD:10954
imported from: doid.owl

aceruloplasminemia
type: Class
subclass of: autosomal recessive disease
subclass of: iron metabolism disease
definition: An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
database_cross_reference: GARD:9499
creation_date: 2012-05-22T11:47:25Z
database_cross_reference: OMIM:604290
has_obo_namespace: disease_ontology
id: DOID:0050711
created_by: lschriml
imported from: doid.owl

AGAT deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: cerebral creatine deficiency syndrome
created_by: lschriml
database_cross_reference: OMIM:612718
definition: An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
id: DOID:0050712
creation_date: 2012-05-22T11:53:57Z
has_exact_synonym: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
has_exact_synonym: arginine:glycine amidinotransferase deficiency
has_obo_namespace: disease_ontology
imported from: doid.owl

vitamin metabolic disorder
type: Class
subclass of: inherited metabolic disorder
creation_date: 2012-06-11T02:44:53Z
id: DOID:0050718
has_obo_namespace: disease_ontology
definition: An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
created_by: lschriml
imported from: doid.owl

ornithine translocase deficiency
type: Class
subclass of: disease by infectious agent
subclass of: amino acid metabolic disorder
has_obo_namespace: disease_ontology
id: DOID:0050720
creation_date: 2012-06-13T03:09:31Z
created_by: lschriml
definition: An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
has_exact_synonym: HHH syndrome
has_exact_synonym: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
database_cross_reference: OMIM:238970
imported from: doid.owl

serine deficiency
type: Class
subclass of: amino acid metabolic disorder
creation_date: 2012-06-13T03:09:31Z
id: DOID:0050721
created_by: lschriml
has_obo_namespace: disease_ontology
definition: An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
imported from: doid.owl

tyrosinemia type III
type: Class
subclass of: tyrosinemia
has_obo_namespace: disease_ontology
definition: A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
creation_date: 2012-07-06T02:55:45Z
database_cross_reference: OMIM:276710
created_by: lschriml
id: DOID:0050727
imported from: doid.owl

glycogen metabolism disorder
type: Class
subclass of: carbohydrate metabolic disorder
definition: A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
id: DOID:0050728
created_by: lschriml
has_obo_namespace: disease_ontology
creation_date: 2012-07-13T10:42:54Z
imported from: doid.owl

neutral lipid storage disease
type: Class
subclass of: lipid storage disease
has_obo_namespace: disease_ontology
id: DOID:0050729
definition: A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
has_exact_synonym: Chanarin-Dorfman syndrome
database_cross_reference: OMIM:275630
created_by: lschriml
creation_date: 2012-07-17T12:31:48Z
imported from: doid.owl

coenzyme Q10 deficiency disease
type: Class
subclass of: mitochondrial metabolism disease
created_by: lschriml
database_cross_reference: GARD:10423
database_cross_reference: OMIM:PS607426
id: DOID:0050730
has_obo_namespace: disease_ontology
definition: A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
creation_date: 2012-07-17T12:58:37Z
has_exact_synonym: COENZYME Q10 DEFICIENCY, PRIMARY
imported from: doid.owl

vitamin B12 deficiency
type: Class
subclass of: vitamin metabolic disorder
has_obo_namespace: disease_ontology
id: DOID:0050731
definition: A vitamin metabolic disorder that results from low blood levels of vitamin B12.
creation_date: 2012-07-17T01:01:29Z
has_exact_synonym: cobalamin deficiency
has_exact_synonym: hypocobalaminemia
created_by: lschriml
imported from: doid.owl

X-linked monogenic disease
type: Class
subclass of: monogenic disease
definition: A monogenic disease that has_material_basis_in muations in genes on the X chromosome.
has_obo_namespace: disease_ontology
created_by: lschriml
creation_date: 2012-07-24T12:47:31Z
id: DOID:0050735
in_subset: DO MGI slim
imported from: doid.owl

autosomal dominant disease
type: Class
subclass of: autosomal genetic disease
created_by: lschriml
creation_date: 2012-07-24T12:51:47Z
id: DOID:0050736
has_obo_namespace: disease_ontology
definition: An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
imported from: doid.owl

autosomal recessive disease
type: Class
subclass of: autosomal genetic disease
id: DOID:0050737
created_by: lschriml
has_obo_namespace: disease_ontology
definition: An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
creation_date: 2012-07-24T12:51:47Z
imported from: doid.owl

autosomal genetic disease
type: Class
subclass of: monogenic disease
id: DOID:0050739
creation_date: 2012-07-24T04:45:53Z
created_by: lschriml
has_obo_namespace: disease_ontology
definition: A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
in_subset: DO MGI slim
imported from: doid.owl

alcohol dependence
type: Class
subclass of: substance dependence
created_by: lschriml
creation_date: 2012-09-05T11:48:42Z
database_cross_reference: OMIM:103780
id: DOID:0050741
database_cross_reference: EFO:0003829
definition: A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.
has_obo_namespace: disease_ontology
database_cross_reference: KEGG:05034
database_cross_reference: SNOMEDCT_US_2020_03_01:66590003
has_exact_synonym: alcoholism
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

nicotine dependence
type: Class
subclass of: substance dependence
database_cross_reference: ICD10CM:F17
id: DOID:0050742
creation_date: 2012-09-05T11:48:42Z
created_by: lschriml
has_obo_namespace: disease_ontology
definition: A substance dependence that is characterized by a physical dependence on nicotine.
database_cross_reference: NCI:C54203
database_cross_reference: SNOMEDCT_US_2020_03_01:56294008
database_cross_reference: EFO:0003768
database_cross_reference: MESH:D014029
database_cross_reference: UMLS_CUI:C0028043
has_exact_synonym: tobacco use disorder
in_subset: NCIthesaurus
imported from: doid.owl

mature T-cell and NK-cell lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
id: DOID:0050743
has_obo_namespace: disease_ontology
creation_date: 2012-09-18T01:56:52Z
definition: A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
has_exact_synonym: NK-T cell lymphoma
created_by: lschriml
has_exact_synonym: mature T-cell and natural killer cell lymphoma
in_subset: DO cancer slim
imported from: doid.owl

anaplastic large cell lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
definition: A non-Hodgkin lymphoma involving aberrant T-cells.
created_by: lschriml
id: DOID:0050744
has_obo_namespace: disease_ontology
creation_date: 2012-09-18T01:57:40Z
imported from: doid.owl

diffuse large B-cell lymphoma
type: Class
subclass of: B-cell lymphoma
created_by: lschriml
has_obo_namespace: disease_ontology
database_cross_reference: GARD:3178
id: DOID:0050745
creation_date: 2012-09-18T01:58:25Z
definition: A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.
in_subset: DO cancer slim
imported from: doid.owl

mantle cell lymphoma
type: Class
subclass of: B-cell lymphoma
definition: A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
database_cross_reference: GARD:6969
creation_date: 2012-09-18T02:00:45Z
database_cross_reference: MESH:D020522
has_obo_namespace: disease_ontology
created_by: lschriml
id: DOID:0050746
imported from: doid.owl

marginal zone B-cell lymphoma
type: Class
subclass of: B-cell lymphoma
subclass of: leukocyte disease
definition: A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue.
id: DOID:0050748
creation_date: 2012-09-18T02:00:45Z
created_by: lschriml
has_obo_namespace: disease_ontology
has_exact_synonym: marginal zone lymphoma
in_subset: DO cancer slim
imported from: doid.owl

peripheral T-cell lymphoma
type: Class
subclass of: mature T-cell and NK-cell lymphoma
database_cross_reference: GARD:7368
definition: A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
id: DOID:0050749
created_by: lschriml
creation_date: 2012-09-18T02:01:49Z
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
imported from: doid.owl

splenic marginal zone lymphoma
type: Class
subclass of: marginal zone B-cell lymphoma
subclass of: spleen cancer
creation_date: 2012-09-18T02:03:06Z
has_obo_namespace: disease_ontology
id: DOID:0050750
created_by: lschriml
definition: A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
imported from: doid.owl

cerebellar ataxia
type: Class
subclass of: hereditary ataxia
subclass of: cerebellar disease
creation_date: 2013-01-16T01:07:02Z
id: DOID:0050753
definition: A hereditary ataxia that is characterized by ataxia originating in the cerebellum.
database_cross_reference: MESH:D002524
created_by: lschriml
has_obo_namespace: disease_ontology
imported from: doid.owl

ataxia with oculomotor apraxia type 2
type: Class
subclass of: autosomal recessive cerebellar ataxia
definition: An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.
created_by: lschriml
id: DOID:0050755
database_cross_reference: OMIM:606002
creation_date: 2013-01-16T01:07:02Z
has_obo_namespace: disease_ontology
imported from: doid.owl

deafness-dystonia-optic neuronopathy syndrome
type: Class
subclass of: genetic disease
subclass of: mitochondrial metabolism disease
database_cross_reference: OMIM:304700
creation_date: 2013-01-16T01:20:50Z
database_cross_reference: ORDO:3213
created_by: lschriml
has_obo_namespace: disease_ontology
id: DOID:0050757
has_alternative_id: DOID:0050867
definition: A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.
has_exact_synonym: Deafness Dystonia Optic Atrophy Syndrome
database_cross_reference: MESH:C535808
has_exact_synonym: Deafness Dystonia Optic Neuronopathy Syndrome
has_exact_synonym: Dystonia Deafness Syndrome
has_exact_synonym: Jensen syndrome
has_exact_synonym: Mohr-Tranebjaerg Syndrome
has_exact_synonym: Mohr-Tranebjaerg syndrome
has_exact_synonym: deafness dystonia syndrome
imported from: doid.owl

metabolic acidosis
type: Class
subclass of: acquired metabolic disease
has_obo_namespace: disease_ontology
created_by: lschriml
id: DOID:0050758
creation_date: 2013-01-16T01:23:37Z
definition: An acquired metabolic disease that characterized by excessive production of acid.
imported from: doid.owl

myotonic dystrophy type 2
type: Class
subclass of: myotonic disease
definition: A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
database_cross_reference: SNOMEDCT_US_2020_03_01:715788001
id: DOID:0050759
database_cross_reference: UMLS_CUI:C0553604
database_cross_reference: NCI:C122790
database_cross_reference: GARD:9728
database_cross_reference: MESH:D020967
database_cross_reference: OMIM:602668
database_cross_reference: ICD9CM:359.2
creation_date: 2013-01-16T01:27:31Z
database_cross_reference: NCI:C122789
database_cross_reference: SNOMEDCT_US_2020_03_01:155096007
database_cross_reference: UMLS_CUI:C0221055
database_cross_reference: ICD10CM:G71.1
database_cross_reference: NCI:C84913
created_by: lschriml
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G71.19
has narrower match: MESH:C535686
database_cross_reference: SNOMEDCT_US_2020_03_01:41574007
database_cross_reference: UMLS_CUI:C0752355
has_exact_synonym: proximal myotonic myopathy
in_subset: NCIthesaurus
imported from: doid.owl

ARC syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
created_by: lschriml
creation_date: 2013-01-17T12:46:38Z
database_cross_reference: ORDO:2697
database_cross_reference: OMIM:PS208085
id: DOID:0050763
has_obo_namespace: disease_ontology
definition: A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
has_exact_synonym: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
has_exact_synonym: Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
has_exact_synonym: Arthrogryposis-renal dysfunction-cholestasis
in_subset: DO FlyBase slim
imported from: doid.owl

neuroacanthocytosis
type: Class
subclass of: neurodegenerative disease
database_cross_reference: GARD:10902
database_cross_reference: MESH:D054546
id: DOID:0050765
has_obo_namespace: disease_ontology
definition: A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.
database_cross_reference: ORDO:263440
creation_date: 2013-01-17T12:54:19Z
created_by: lschriml
imported from: doid.owl

choreaacanthocytosis
type: Class
subclass of: autosomal recessive disease
subclass of: neuroacanthocytosis
creation_date: 2013-01-17T12:54:19Z
database_cross_reference: GARD:3956
database_cross_reference: NCI:C84926
database_cross_reference: ORDO:2388
database_cross_reference: SNOMEDCT_US_2020_03_01:26848004
database_cross_reference: OMIM:200150
database_cross_reference: UMLS_CUI:C0393576
database_cross_reference: MESH:D054546
id: DOID:0050766
has_obo_namespace: disease_ontology
definition: A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
has_exact_synonym: Levine-Critchley syndrome
has_exact_synonym: choreo-acanthocytosis
created_by: lschriml
in_subset: NCIthesaurus
imported from: doid.owl

N syndrome
type: Class
subclass of: syndrome
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:2608
database_cross_reference: OMIM:310465
definition: A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.
created_by: lschriml
id: DOID:0050769
creation_date: 2013-02-21T11:32:26Z
database_cross_reference: GARD:3902
has_exact_synonym: NSX
imported from: doid.owl

polycystic liver disease
type: Class
subclass of: autosomal dominant disease
subclass of: liver disease
definition: A liver disease that is characterized by the presence of multiple cysts located_in the liver.
has_alternative_id: DOID:1173
creation_date: 2013-02-21T11:36:13Z
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9457
database_cross_reference: OMIM:174050
created_by: lschriml
id: DOID:0050770
has_exact_synonym: congenital cystic liver disease
has_exact_synonym: congenital hepatic cyst
has_exact_synonym: fibrocystic liver disease
imported from: doid.owl

pheochromocytoma
type: Class
subclass of: endocrine organ benign neoplasm
id: DOID:0050771
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D010673
database_cross_reference: OMIM:171300
database_cross_reference: GARD:7385
created_by: lschriml
creation_date: 2013-02-21T11:40:58Z
definition: An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.
has_exact_synonym: phaeochromocytoma
imported from: doid.owl

paraganglioma
type: Class
subclass of: autosomal dominant disease
subclass of: pheochromocytoma
creation_date: 2013-02-21T11:51:57Z
definition: A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
database_cross_reference: OMIM:605373
database_cross_reference: MESH:D010235
id: DOID:0050773
database_cross_reference: OMIM:601650
database_cross_reference: OMIM:115310
comment: Xref MGI.
database_cross_reference: OMIM:168000
database_cross_reference: SNOMEDCT_US_2020_03_01:302833002
database_cross_reference: OMIM:614165
database_cross_reference: UMLS_CUI:C0030421
has_exact_synonym: chemodectoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3308
database_cross_reference: OMIM:PS168000
has_exact_synonym: glomus body tumor
created_by: lschriml
in_subset: NCIthesaurus
imported from: doid.owl

rapadilino syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: ORDO:3021
created_by: lschriml
creation_date: 2013-02-21T11:56:15Z
database_cross_reference: OMIM:266280
definition: A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
id: DOID:0050774
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1849453
database_cross_reference: MESH:C535288
database_cross_reference: SNOMEDCT_US_2020_03_01:702413000
database_cross_reference: GARD:4637
imported from: doid.owl

schneckenbecken dysplasia
type: Class
subclass of: osteochondrodysplasia
database_cross_reference: GARD:169
created_by: lschriml
has_obo_namespace: disease_ontology
definition: An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.
database_cross_reference: OMIM:269250
id: DOID:0050775
database_cross_reference: MESH:C536637
creation_date: 2013-02-21T12:00:39Z
imported from: doid.owl

non-syndromic X-linked intellectual disability
type: Class
subclass of: X-linked monogenic disease
subclass of: non-syndromic intellectual disability
definition: A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
database_cross_reference: OMIM:300716
comment: Xref MGI.
has_obo_namespace: disease_ontology
creation_date: 2013-02-21T12:06:40Z
created_by: lschriml
database_cross_reference: OMIM:PS309530
database_cross_reference: ORDO:777
id: DOID:0050776
has_exact_synonym: non-specific X-linked mental retardation
in_subset: DO FlyBase slim
in_subset: DO rare slim
imported from: doid.owl

cerebral creatine deficiency syndrome
type: Class
subclass of: amino acid metabolic disorder
definition: An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28.
created_by: lschriml
creation_date: 2013-11-21T12:10:58Z
has_obo_namespace: disease_ontology
id: DOID:0050798
imported from: doid.owl

atrioventricular block
type: Class
subclass of: heart conduction disease
created_by: lschriml
database_cross_reference: UMLS_CUI:C0004245
creation_date: 2014-02-12T01:35:05Z
has_exact_synonym: AV block
database_cross_reference: ICD9CM:426.10
database_cross_reference: NCI:C26703
database_cross_reference: MESH:D054537
database_cross_reference: ICD10CM:I44.3
database_cross_reference: SNOMEDCT_US_2020_03_01:58547007
id: DOID:0050820
definition: A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

sinoatrial node disease
type: Class
subclass of: muscular disease
subclass of: heart conduction disease
created_by: lschriml
id: DOID:0050824
creation_date: 2014-02-12T01:47:54Z
definition: A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
has_exact_synonym: SA node
has_obo_namespace: disease_ontology
has_exact_synonym: sinuatrial node
imported from: doid.owl

endocardium disease
type: Class
subclass of: heart disease
created_by: lschriml
has_obo_namespace: disease_ontology
definition: A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
id: DOID:0050825
creation_date: 2014-02-12T01:53:42Z
imported from: doid.owl

tricuspid valve disease
type: Class
subclass of: heart valve disease
created_by: lschriml
has_obo_namespace: disease_ontology
id: DOID:0050826
definition: A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle.
database_cross_reference: UMLS_CUI:C0264776
has_alternative_id: DOID:13834
database_cross_reference: ICD10CM:I07
database_cross_reference: SNOMEDCT_US_2020_03_01:49699002
creation_date: 2014-02-12T02:55:24Z
database_cross_reference: ICD9CM:397.0
has_exact_synonym: RH. tricuspid valve disease
has_exact_synonym: Rheumatic disease of tricuspid valve
has_exact_synonym: Rheumatic tricuspid valve disease
has_exact_synonym: Tricuspid disease
has_exact_synonym: disease of tricuspid valve
has_exact_synonym: rheumatic tricuspid valve disease
imported from: doid.owl

artery disease
type: Class
subclass of: vascular disease
definition: A vascular disease that is located_in an artery.
created_by: lschriml
creation_date: 2014-02-12T03:08:35Z
has_obo_namespace: disease_ontology
id: DOID:0050828
imported from: doid.owl

pericardium disease
type: Class
subclass of: cardiovascular system disease
creation_date: 2014-02-18T12:20:15Z
definition: A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
id: DOID:0050829
created_by: lschriml
has_obo_namespace: disease_ontology
imported from: doid.owl

focal dystonia
type: Class
subclass of: dystonia
created_by: lschriml
creation_date: 2014-03-18T01:13:36Z
database_cross_reference: GARD:6458
definition: A dystonia that is localized to a specific part of the body.
has_obo_namespace: disease_ontology
id: DOID:0050836
imported from: doid.owl

cranio-facial dystonia
type: Class
subclass of: focal dystonia
id: DOID:0050845
definition: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
creation_date: 2014-03-18T01:33:33Z
created_by: lschriml
has_obo_namespace: disease_ontology
imported from: doid.owl

sleep apnea
type: Class
subclass of: sleep disorder
created_by: lschriml
database_cross_reference: SNOMEDCT_US_2020_03_01:206750008
database_cross_reference: ICD10CM:G47.3
has_obo_namespace: disease_ontology
id: DOID:0050847
database_cross_reference: MESH:D012891
creation_date: 2014-03-20T03:57:22Z
database_cross_reference: UMLS_CUI:C0037315
definition: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
database_cross_reference: NCI:C26884
database_cross_reference: ICD9CM:780.57
in_subset: NCIthesaurus
imported from: doid.owl

glomerulosclerosis
type: Class
subclass of: glomerulonephritis
id: DOID:0050851
created_by: lschriml
definition: A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
has_obo_namespace: disease_ontology
creation_date: 2014-04-15T03:40:31Z
imported from: doid.owl

syndromic intellectual disability
type: Class
subclass of: intellectual disability
has_obo_namespace: disease_ontology
definition: An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
creation_date: 2014-08-14T10:55:32Z
created_by: lschriml
id: DOID:0050888
in_subset: DO FlyBase slim
imported from: doid.owl

non-syndromic intellectual disability
type: Class
subclass of: intellectual disability
created_by: lschriml
database_cross_reference: OMIM:614202
database_cross_reference: OMIM:613192
id: DOID:0050889
definition: An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
has_obo_namespace: disease_ontology
creation_date: 2014-08-14T10:57:36Z
imported from: doid.owl

synucleinopathy
type: Class
subclass of: neurodegenerative disease
id: DOID:0050890
has_obo_namespace: disease_ontology
creation_date: 2014-08-14T03:29:17Z
definition: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
has_exact_synonym: Synucleinopathies
has_exact_synonym: alpha Synucleinopathies
created_by: lschriml
in_subset: DO FlyBase slim
imported from: doid.owl

medulloblastoma
type: Class
subclass of: infratentorial cancer
has_alternative_id: DOID:3858
has_alternative_id: DOID:4981
database_cross_reference: GARD:7005
has_alternative_id: DOID:0060105
definition: An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
has_exact_synonym: CNS PNET
database_cross_reference: MESH:D008527
has_alternative_id: DOID:168
database_cross_reference: NCI:C3716
creation_date: 2014-10-06T14:36:37Z
has_exact_synonym: CPNET
database_cross_reference: UMLS_CUI:C0206663
database_cross_reference: SNOMEDCT_US_2020_03_01:189925001
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:443333004
database_cross_reference: NCI:C27294
id: DOID:0050902
database_cross_reference: UMLS_CUI:C0025149
database_cross_reference: UMLS_CUI:C1334410
database_cross_reference: OMIM:155255
has_exact_synonym: brain medulloblastoma
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018242
database_cross_reference: NCI:C3222
has_exact_synonym: infratentorial primitive neuroectodermal tumor
has_exact_synonym: localized primitive neuroectodermal tumor
created_by: lschriml
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

salivary gland carcinoma
type: Class
subclass of: carcinoma
subclass of: salivary gland cancer
has_obo_namespace: disease_ontology
creation_date: 2014-10-08T16:52:58Z
definition: A salivary gland cancer that has_material_basis_in epithelial cells.
id: DOID:0050904
created_by: lschriml
in_subset: DO cancer slim
imported from: doid.owl

breast lobular carcinoma
type: Class
subclass of: breast carcinoma
has_obo_namespace: disease_ontology
created_by: lschriml
id: DOID:0050938
definition: A breast carcinoma that derives_from breast lobules (milk glands).
creation_date: 2014-10-22T13:05:34Z
in_subset: DO cancer slim
imported from: doid.owl

autosomal recessive cerebellar ataxia
type: Class
subclass of: autosomal recessive disease
subclass of: cerebellar ataxia
definition: A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance.
database_cross_reference: ORDO:1172
database_cross_reference: OMIM:PS213200
created_by: lschriml
has_obo_namespace: disease_ontology
id: DOID:0050950
creation_date: 2015-10-05T14:21:08Z
imported from: doid.owl

hereditary ataxia
type: Class
subclass of: neurodegenerative disease
database_cross_reference: GARD:6614
definition: A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
created_by: lschriml
has_obo_namespace: disease_ontology
creation_date: 2015-10-05T14:38:17Z
id: DOID:0050951
imported from: doid.owl

infective endocarditis
type: Class
subclass of: disease by infectious agent
subclass of: endocarditis
database_cross_reference: GARD:6337
definition: An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
id: DOID:0060000
has_obo_namespace: disease_ontology
imported from: doid.owl

withdrawal disorder
type: Class
subclass of: substance-related disorder
has_obo_namespace: disease_ontology
definition: A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
id: DOID:0060001
imported from: doid.owl

C1 inhibitor deficiency
type: Class
subclass of: complement deficiency
id: DOID:0060002
definition: A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.
has_exact_synonym: Quincke edema
has_obo_namespace: disease_ontology
imported from: doid.owl

autoimmune disease of central nervous system
type: Class
subclass of: autoimmune disease of the nervous system
id: DOID:0060004
has_obo_namespace: disease_ontology
definition: An autoimmune hypersensitivity disease located_in the central nervous system.
imported from: doid.owl

autoimmune disease of endocrine system
type: Class
subclass of: endocrine system disease
subclass of: autoimmune disease
id: DOID:0060005
definition: An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.
has_obo_namespace: disease_ontology
imported from: doid.owl

MHC class I deficiency
type: Class
subclass of: severe combined immunodeficiency
definition: A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.
has_exact_synonym: BLS, TYPE I
database_cross_reference: OMIM:604571
has_exact_synonym: BLSI
has_exact_synonym: HLA CLASS I DEFICIENCY
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:0060009
has_exact_synonym: bare lymphocyte syndrome type I
has_obo_namespace: disease_ontology
imported from: doid.owl

Omenn syndrome
type: Class
subclass of: severe combined immunodeficiency
database_cross_reference: GARD:8198
id: DOID:0060010
definition: A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.
database_cross_reference: OMIM:603554
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D81.8
has_exact_synonym: combined immunodeficiency with hypereosinophilia
imported from: doid.owl

X-linked severe combined immunodeficiency
type: Class
subclass of: X-linked recessive disease
subclass of: severe combined immunodeficiency
database_cross_reference: MESH:D053632
has_alternative_id: DOID:5811
definition: A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: UMLS_CUI:C1279481
database_cross_reference: SNOMEDCT_US_2020_03_01:203592006
database_cross_reference: OMIM:300400
database_cross_reference: NCI:C4682
has_obo_namespace: disease_ontology
id: DOID:0060013
database_cross_reference: GARD:5618
has_exact_synonym: SCID-X1
has_exact_synonym: X-Linked Severe Combined Immunodeficiency
has_exact_synonym: XSCID
has_exact_synonym: gamma chain deficiency
has_exact_synonym: thymic epithelial hypoplasia
in_subset: NCIthesaurus
imported from: doid.owl

coronin-1A deficiency
type: Class
subclass of: severe combined immunodeficiency
has_obo_namespace: disease_ontology
id: DOID:0060019
database_cross_reference: OMIM:615401
definition: A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.
imported from: doid.owl

reticular dysgenesis
type: Class
subclass of: autosomal recessive disease
subclass of: severe combined immunodeficiency
definition: A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:1226
id: DOID:0060020
database_cross_reference: NCI:C27070
database_cross_reference: GARD:8625
database_cross_reference: MESH:C538361
has_exact_synonym: De Vaal disease
database_cross_reference: UMLS_CUI:C0272167
database_cross_reference: OMIM:267500
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:111584000
has_related_synonym: aleukocytosis
in_subset: NCIthesaurus
imported from: doid.owl

DNA ligase IV deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: combined T cell and B cell immunodeficiency
id: DOID:0060021
has_exact_synonym: LIG4 Syndrome
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
definition: A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
database_cross_reference: OMIM:606593
imported from: doid.owl

CD40 ligand deficiency
type: Class
subclass of: X-linked recessive disease
subclass of: combined T cell and B cell immunodeficiency
database_cross_reference: OMIM:308230
definition: A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
id: DOID:0060022
has_exact_synonym: HIGMX-1
has_obo_namespace: disease_ontology
has_exact_synonym: X-linked hyper-IgM syndrome
imported from: doid.owl

immunoglobulin alpha deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: B cell deficiency
comment: Xref MGI.
id: DOID:0060025
database_cross_reference: SNOMEDCT_US_2020_03_01:29260007
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D017098
database_cross_reference: OMIM:269650
database_cross_reference: OMIM:137100
database_cross_reference: OMIM:609529
database_cross_reference: GARD:10197
has_exact_synonym: IgA deficiency
database_cross_reference: ORDO:69127
database_cross_reference: UMLS_CUI:C0162538
definition: A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.
has_exact_synonym: gamma-A-globulin deficiency
in_subset: DO rare slim
imported from: doid.owl

Good syndrome
type: Class
subclass of: combined T cell and B cell immunodeficiency
has_obo_namespace: disease_ontology
definition: A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
id: DOID:0060028
has_exact_synonym: thymoma with hypogammaglobulinemia
imported from: doid.owl

autoimmune disease of exocrine system
type: Class
subclass of: autoimmune disease
id: DOID:0060029
definition: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system.
has_obo_namespace: disease_ontology
imported from: doid.owl

autoimmune disease of gastrointestinal tract
type: Class
subclass of: autoimmune disease
subclass of: gastrointestinal system disease
definition: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
has_obo_namespace: disease_ontology
id: DOID:0060031
imported from: doid.owl

autoimmune disease of musculoskeletal system
type: Class
subclass of: musculoskeletal system disease
subclass of: autoimmune disease
id: DOID:0060032
has_obo_namespace: disease_ontology
definition: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.
imported from: doid.owl

autoimmune disease of peripheral nervous system
type: Class
subclass of: autoimmune disease of the nervous system
subclass of: peripheral nervous system disease
definition: An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system.
id: DOID:0060033
has_obo_namespace: disease_ontology
imported from: doid.owl

intrinsic cardiomyopathy
type: Class
subclass of: cardiomyopathy
definition: A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
has_obo_namespace: disease_ontology
id: DOID:0060036
imported from: doid.owl

developmental disorder of mental health
type: Class
subclass of: disease of mental health
has_obo_namespace: disease_ontology
id: DOID:0060037
definition: A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
imported from: doid.owl

specific developmental disorder
type: Class
subclass of: developmental disorder of mental health
id: DOID:0060038
definition: A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
has_obo_namespace: disease_ontology
imported from: doid.owl

autoimmune disease of skin and connective tissue
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: skin disease
subclass of: connective tissue disease
has_obo_namespace: disease_ontology
definition: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.
id: DOID:0060039
imported from: doid.owl

pervasive developmental disorder
type: Class
subclass of: developmental disorder of mental health
has_alternative_id: DOID:1208
id: DOID:0060040
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:299.80
definition: A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
database_cross_reference: UMLS_CUI:C0154451
has_exact_synonym: pervasive development disorder
imported from: doid.owl

autism spectrum disorder
type: Class
subclass of: pervasive developmental disorder
database_cross_reference: GARD:10248
has_obo_namespace: disease_ontology
definition: A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
database_cross_reference: MESH:D000067877
id: DOID:0060041
in_subset: DO FlyBase slim
imported from: doid.owl

atypical autism
type: Class
subclass of: autism spectrum disorder
has_obo_namespace: disease_ontology
definition: An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
id: DOID:0060042
has_exact_synonym: PDD
imported from: doid.owl

sexual disorder
type: Class
subclass of: disease of mental health
id: DOID:0060043
has_obo_namespace: disease_ontology
definition: A disease of mental health that involves the impairment in normal sexual functioning.
imported from: doid.owl

paraphilia disorder
type: Class
subclass of: sexual disorder
definition: A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects.
id: DOID:0060044
has_obo_namespace: disease_ontology
imported from: doid.owl

aphasia
type: Class
subclass of: language disorder
definition: A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
id: DOID:0060046
has_obo_namespace: disease_ontology
imported from: doid.owl

writing disorder
type: Class
subclass of: learning disability
has_obo_namespace: disease_ontology
id: DOID:0060047
definition: A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
imported from: doid.owl

autoimmune disease of urogenital tract
type: Class
subclass of: autoimmune disease
id: DOID:0060049
definition: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.
has_obo_namespace: disease_ontology
imported from: doid.owl

autoimmune disease of blood
type: Class
subclass of: autoimmune disease
definition: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.
id: DOID:0060050
has_obo_namespace: disease_ontology
in_subset: DO FlyBase slim
imported from: doid.owl

autoimmune disease of cardiovascular system
type: Class
subclass of: cardiovascular system disease
subclass of: autoimmune disease
id: DOID:0060051
has_obo_namespace: disease_ontology
definition: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.
imported from: doid.owl

hypersensitivity reaction disease
type: Class
subclass of: immune system disease
has_obo_namespace: disease_ontology
id: DOID:0060056
definition: An immune system disease that has_material_basis_in abnormal immune responses.
imported from: doid.owl

lymphoma
type: Class
subclass of: lymphatic system cancer
subclass of: hematologic cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:414628006
has_alternative_id: DOID:353
has_obo_namespace: disease_ontology
definition: A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
database_cross_reference: NCI:C3208
id: DOID:0060058
database_cross_reference: ICD10CM:C85.9
database_cross_reference: UMLS_CUI:C0598798
database_cross_reference: MESH:D008223
database_cross_reference: SNOMEDCT_US_2020_03_01:118600007
database_cross_reference: NCI:C7065
has_alternative_id: DOID:1033
database_cross_reference: UMLS_CUI:C0024299
has_exact_synonym: lymphoid cancer
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

non-Hodgkin lymphoma
type: Class
subclass of: lymphoma
database_cross_reference: MESH:D008228
id: DOID:0060060
definition: A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:605027
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:547
imported from: doid.owl

cutaneous T cell lymphoma
type: Class
subclass of: peripheral T-cell lymphoma
database_cross_reference: MESH:D016410
database_cross_reference: GARD:6226
definition: A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells.
has_obo_namespace: disease_ontology
id: DOID:0060061
has_exact_synonym: cutaneous T-cell lymphoma
in_subset: DO rare slim
imported from: doid.owl

familial juvenile hyperuricemic nephropathy
type: Class
subclass of: kidney disease
database_cross_reference: OMIM:613092
database_cross_reference: ORDO:209886
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
definition: A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
id: DOID:0060062
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:162000
database_cross_reference: ORDO:217330
database_cross_reference: OMIM:614227
in_subset: DO rare slim
imported from: doid.owl

pyridoxine-responsive sideroblastic anemia
type: Class
subclass of: sideroblastic anemia
has_obo_namespace: disease_ontology
definition: A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance.
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:206000
id: DOID:0060066
imported from: doid.owl

Pearson syndrome
type: Class
subclass of: mitochondrial metabolism disease
comment: OMIM mapping confirmed by DO. [LS].
definition: A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
database_cross_reference: GARD:7343
has_obo_namespace: disease_ontology
id: DOID:0060067
database_cross_reference: OMIM:557000
has_exact_synonym: Pearson Marrow-Pancreas Syndrome
imported from: doid.owl

pre-malignant neoplasm
type: Class
subclass of: disease of cellular proliferation
id: DOID:0060071
definition: A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.
created_by: lschriml
creation_date: 2011-05-11T12:18:41Z
has_obo_namespace: disease_ontology
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
imported from: doid.owl

benign neoplasm
type: Class
subclass of: disease of cellular proliferation
definition: A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
creation_date: 2011-05-11T12:18:41Z
created_by: lschriml
has_obo_namespace: disease_ontology
id: DOID:0060072
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
imported from: doid.owl

lymphatic system cancer
type: Class
subclass of: immune system cancer
subclass of: lymphatic system disease
created_by: lschriml
creation_date: 2011-05-11T01:05:14Z
id: DOID:0060073
definition: An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
has_obo_namespace: disease_ontology
imported from: doid.owl

ductal carcinoma in situ
type: Class
subclass of: breast carcinoma in situ
id: DOID:0060074
creation_date: 2011-06-08T12:19:28Z
created_by: lschriml
definition: A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.
has_obo_namespace: disease_ontology
imported from: doid.owl

estrogen-receptor positive breast cancer
type: Class
subclass of: breast cancer
creation_date: 2011-06-08T12:23:02Z
has_obo_namespace: disease_ontology
created_by: lschriml
definition: A breast cancer that is characterized by the presence of estrogen receptors.
id: DOID:0060075
imported from: doid.owl

breast benign neoplasm
type: Class
subclass of: thoracic benign neoplasm
subclass of: breast disease
id: DOID:0060082
created_by: lschriml
has_obo_namespace: disease_ontology
definition: A thoracic benign neoplasm that is characterized by lack of malignancy.
creation_date: 2011-06-08T01:02:29Z
imported from: doid.owl

immune system cancer
type: Class
subclass of: organ system cancer
subclass of: immune system disease
created_by: lschriml
id: DOID:0060083
has_obo_namespace: disease_ontology
definition: An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
creation_date: 2011-06-08T01:11:18Z
imported from: doid.owl

cell type benign neoplasm
type: Class
subclass of: benign neoplasm
created_by: lschriml
creation_date: 2011-07-14T11:59:48Z
has_obo_namespace: disease_ontology
id: DOID:0060084
definition: A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
imported from: doid.owl

organ system benign neoplasm
type: Class
subclass of: benign neoplasm
id: DOID:0060085
creation_date: 2011-07-14T12:12:23Z
created_by: lschriml
definition: A benign neoplasm that is classified by the organ system from which it is arising from.
has_obo_namespace: disease_ontology
in_subset: DO FlyBase slim
imported from: doid.owl

female reproductive organ benign neoplasm
type: Class
subclass of: reproductive organ benign neoplasm
subclass of: female reproductive system disease
creation_date: 2011-07-14T12:20:52Z
created_by: lschriml
has_obo_namespace: disease_ontology
definition: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system.
id: DOID:0060086
imported from: doid.owl

male reproductive organ benign neoplasm
type: Class
subclass of: reproductive organ benign neoplasm
subclass of: male reproductive system disease
id: DOID:0060087
has_obo_namespace: disease_ontology
creation_date: 2011-07-14T12:20:52Z
definition: A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system.
created_by: lschriml
imported from: doid.owl

endocrine organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
definition: An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
id: DOID:0060089
has_obo_namespace: disease_ontology
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z
imported from: doid.owl

central nervous system benign neoplasm
type: Class
subclass of: nervous system benign neoplasm
subclass of: central nervous system disease
definition: A nervous system benign neoplasm that is characterized by lack of malignancy.
has_obo_namespace: disease_ontology
id: DOID:0060090
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z
imported from: doid.owl

cardiovascular organ benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: cardiovascular system disease
definition: An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
has_obo_namespace: disease_ontology
created_by: lschriml
creation_date: 2011-07-14T01:45:15Z
id: DOID:0060091
imported from: doid.owl

bone benign neoplasm
type: Class
subclass of: connective tissue benign neoplasm
subclass of: bone disease
creation_date: 2011-07-15T01:34:59Z
definition: A connective tissue benign neoplasm that is located_in bone.
created_by: lschriml
id: DOID:0060094
has_obo_namespace: disease_ontology
imported from: doid.owl

uterine benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
subclass of: uterine disease
created_by: lschriml
has_alternative_id: DOID:0060113
has_obo_namespace: disease_ontology
creation_date: 2011-07-15T01:42:11Z
id: DOID:0060095
definition: A female reproductive organ benign neoplasm that is located_in the uterus.
imported from: doid.owl

sensory organ benign neoplasm
type: Class
subclass of: sensory system disease
subclass of: nervous system benign neoplasm
id: DOID:0060096
definition: A nervous system benign neoplasm that is located_in a sensory organ.
creation_date: 2011-07-15T01:45:26Z
created_by: lschriml
has_obo_namespace: disease_ontology
imported from: doid.owl

thoracic benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: thoracic disease
created_by: lschriml
has_obo_namespace: disease_ontology
definition: An organ system benign neoplam that is located_in the thoracic cavity.
id: DOID:0060097
creation_date: 2011-07-15T01:55:57Z
imported from: doid.owl

osteoblastoma
type: Class
subclass of: bone benign neoplasm
definition: A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas.
id: DOID:0060098
database_cross_reference: MESH:D018215
has_obo_namespace: disease_ontology
creation_date: 2011-07-15T02:14:40Z
created_by: lschriml
imported from: doid.owl

musculoskeletal system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: musculoskeletal system disease
has_obo_namespace: disease_ontology
creation_date: 2011-07-15T02:28:52Z
created_by: lschriml
definition: An organ system benign neoplasm that is located_in the muscular and skeletal organs.
id: DOID:0060099
imported from: doid.owl

musculoskeletal system cancer
type: Class
subclass of: organ system cancer
subclass of: musculoskeletal system disease
id: DOID:0060100
creation_date: 2011-07-15T02:30:51Z
has_alternative_id: DOID:0060124
definition: An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
has_obo_namespace: disease_ontology
created_by: lschriml
has_exact_synonym: skeletal system cancer
imported from: doid.owl

benign glioma
type: Class
subclass of: cell type benign neoplasm
subclass of: central nervous system benign neoplasm
subclass of: spinal cord disease
subclass of: brain disease
id: DOID:0060101
definition: A cell type benign neoplasm that has_material_basis_in glial cells.
has_obo_namespace: disease_ontology
creation_date: 2011-07-19T01:27:04Z
created_by: lschriml
imported from: doid.owl

central nervous system primitive neuroectodermal neoplasm
type: Class
subclass of: neuroectodermal tumor
subclass of: central nervous system cancer
definition: A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm.
id: DOID:0060103
created_by: lschriml
creation_date: 2011-07-21T02:24:10Z
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
imported from: doid.owl

brain glioma
type: Class
subclass of: brain cancer
has_obo_namespace: disease_ontology
definition: A brain cancer that has_material_basis_in glial cells.
created_by: lschriml
creation_date: 2011-07-22T12:42:50Z
id: DOID:0060108
has_exact_synonym: lower grade glioma
in_subset: DO FlyBase slim
in_subset: DO cancer slim
imported from: doid.owl

vulvar benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
subclass of: vulvar disease
creation_date: 2011-07-25T11:50:50Z
id: DOID:0060109
created_by: lschriml
has_obo_namespace: disease_ontology
definition: A female reproductive organ benign neoplasm that is located_in the vulva.
imported from: doid.owl

ovarian benign neoplasm
type: Class
subclass of: female reproductive organ benign neoplasm
subclass of: ovarian disease
definition: A female reproductive organ benign neoplasm that is located_in the ovary.
id: DOID:0060112
has_obo_namespace: disease_ontology
creation_date: 2011-07-25T11:50:50Z
created_by: lschriml
imported from: doid.owl

nervous system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: nervous system disease
created_by: lschriml
definition: An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
id: DOID:0060115
has_obo_namespace: disease_ontology
creation_date: 2011-07-25T12:47:43Z
imported from: doid.owl

sensory system cancer
type: Class
subclass of: sensory system disease
subclass of: nervous system cancer
creation_date: 2011-07-25T01:51:56Z
id: DOID:0060116
definition: A nervous system cancer that is located in the sensory system.
has_obo_namespace: disease_ontology
created_by: lschriml
imported from: doid.owl

thoracic disease
type: Class
subclass of: disease of anatomical entity
has_obo_namespace: disease_ontology
created_by: lschriml
definition: A disease of anatomical entity that is located_in the thoracic cavity.
creation_date: 2011-07-25T02:23:47Z
id: DOID:0060118
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
imported from: doid.owl

pharynx cancer
type: Class
subclass of: gastrointestinal system cancer
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0031347
database_cross_reference: SNOMEDCT_US_2020_03_01:126685009
creation_date: 2011-07-27T01:26:34Z
definition: A gastrointestinal system cancer that is located_in the pharynx.
database_cross_reference: NCI:C3325
created_by: lschriml
id: DOID:0060119
database_cross_reference: MESH:D010610
has_related_synonym: pharyngeal cancer
has_exact_synonym: pharyngeal neoplasm
has_exact_synonym: pharynx neoplasm
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

integumentary system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: integumentary system disease
has_obo_namespace: disease_ontology
created_by: lschriml
creation_date: 2011-07-27T01:49:44Z
definition: An organ system benign neoplasm located_in the integumentary system organs.
id: DOID:0060121
imported from: doid.owl

integumentary system cancer
type: Class
subclass of: organ system cancer
subclass of: integumentary system disease
definition: An organ system cancer that is located_in the skin, hair and nails.
id: DOID:0060122
creation_date: 2011-07-27T02:31:34Z
has_obo_namespace: disease_ontology
created_by: lschriml
imported from: doid.owl

connective tissue benign neoplasm
type: Class
subclass of: musculoskeletal system benign neoplasm
subclass of: connective tissue disease
id: DOID:0060123
database_cross_reference: MESH:D012983
database_cross_reference: SNOMEDCT_US_2020_03_01:126600002
creation_date: 2011-07-27T02:35:57Z
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0037579
created_by: lschriml
has_alternative_id: DOID:177
database_cross_reference: NCI:C3377
definition: A musculoskeletal system benign neoplasm that is located_in connective tissue.
has_exact_synonym: neoplasm of soft tissue
has_exact_synonym: neoplasm of soft tissues
has_exact_synonym: soft tissue benign neoplasm
has_exact_synonym: tumor of the soft tissue
in_subset: NCIthesaurus
imported from: doid.owl

heavy chain disease
type: Class
subclass of: hypersensitivity reaction type IV disease
database_cross_reference: ICD10CM:C88.2
database_cross_reference: UMLS_CUI:C0018854
created_by: lschriml
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3892
database_cross_reference: UMLS_CUI:C0018852
definition: A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
database_cross_reference: SNOMEDCT_US_2020_03_01:68979007
database_cross_reference: NCI:C3082
id: DOID:0060125
database_cross_reference: NCI:C3083
database_cross_reference: SNOMEDCT_US_2020_03_01:6381009
database_cross_reference: UMLS_CUI:C0242310
database_cross_reference: SNOMEDCT_US_2020_03_01:61493004
database_cross_reference: MESH:D006362
creation_date: 2011-08-22T11:23:09Z
in_subset: NCIthesaurus
imported from: doid.owl

alpha chain disease
type: Class
subclass of: heavy chain disease
id: DOID:0060126
created_by: lschriml
creation_date: 2011-08-22T11:23:09Z
has_obo_namespace: disease_ontology
definition: A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
has_exact_synonym: Seligmann's disease
imported from: doid.owl

gamma heavy chain disease
type: Class
subclass of: heavy chain disease
database_cross_reference: GARD:10346
definition: A heavy chain disease that results from an overproduction of gamma antibody (IgG).
id: DOID:0060127
has_obo_namespace: disease_ontology
created_by: lschriml
creation_date: 2011-08-22T11:23:09Z
has_exact_synonym: Franklin's disease
imported from: doid.owl

mu chain disease
type: Class
subclass of: heavy chain disease
has_obo_namespace: disease_ontology
id: DOID:0060128
definition: A heavy chain disease that results from an overproduction of mu antibody (IgM).
creation_date: 2011-08-22T11:23:09Z
created_by: lschriml
imported from: doid.owl

alexithymia
type: Class
subclass of: agnosia
definition: An agnosia that is a deficiency in understanding, processing, or describing emotions.
creation_date: 2011-08-22T12:04:56Z
id: DOID:0060131
has_obo_namespace: disease_ontology
created_by: lschriml
imported from: doid.owl

amusia
type: Class
subclass of: agnosia
has_obo_namespace: disease_ontology
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
id: DOID:0060132
has_exact_synonym: receptive amusia
imported from: doid.owl

anosognosia
type: Class
subclass of: agnosia
creation_date: 2011-08-22T12:04:56Z
definition: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
id: DOID:0060133
has_obo_namespace: disease_ontology
created_by: lschriml
imported from: doid.owl

apperceptive agnosia
type: Class
subclass of: agnosia
id: DOID:0060134
has_obo_namespace: disease_ontology
created_by: lschriml
definition: An agnosia that is a loss of the ability to distinguish visual shapes.
creation_date: 2011-08-22T12:04:56Z
imported from: doid.owl

apraxia
type: Class
subclass of: agnosia
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
database_cross_reference: SNOMEDCT_US_2019_09_01:68345001
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:R48.2
database_cross_reference: GARD:5838
id: DOID:0060135
definition: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
imported from: doid.owl

associative agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.
id: DOID:0060136
created_by: lschriml
has_obo_namespace: disease_ontology
creation_date: 2011-08-22T12:04:56Z
imported from: doid.owl

auditory agnosia
type: Class
subclass of: agnosia
created_by: lschriml
id: DOID:0060137
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
definition: An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.
imported from: doid.owl

cortical deafness
type: Class
subclass of: agnosia
id: DOID:0060140
definition: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
imported from: doid.owl

finger agnosia
type: Class
subclass of: agnosia
created_by: lschriml
has_obo_namespace: disease_ontology
definition: An agnosia that is a loss of the ability to distinguish the fingers on the hand.
creation_date: 2011-08-22T12:04:56Z
id: DOID:0060141
imported from: doid.owl

form agnosia
type: Class
subclass of: agnosia
creation_date: 2011-08-22T12:04:56Z
id: DOID:0060142
has_obo_namespace: disease_ontology
definition: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
created_by: lschriml
imported from: doid.owl

pain agnosia
type: Class
subclass of: agnosia
has_obo_namespace: disease_ontology
id: DOID:0060145
definition: An agnosia that is a loss of the ability to perceive and process pain.
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
has_exact_synonym: analgesia
imported from: doid.owl

simultanagnosia
type: Class
subclass of: agnosia
id: DOID:0060148
database_cross_reference: GARD:11943
created_by: lschriml
definition: An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
creation_date: 2011-08-22T12:04:56Z
has_obo_namespace: disease_ontology
imported from: doid.owl

astereognosia
type: Class
subclass of: agnosia
has_obo_namespace: disease_ontology
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
id: DOID:0060150
definition: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
has_exact_synonym: somatosensory agnosia
imported from: doid.owl

tactile agnosia
type: Class
subclass of: agnosia
definition: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
has_obo_namespace: disease_ontology
created_by: lschriml
creation_date: 2011-08-22T12:04:56Z
id: DOID:0060151
imported from: doid.owl

verbal auditory agnosia
type: Class
subclass of: agnosia
id: DOID:0060154
definition: An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
created_by: lschriml
has_obo_namespace: disease_ontology
creation_date: 2011-08-22T12:04:56Z
imported from: doid.owl

visual agnosia
type: Class
subclass of: agnosia
creation_date: 2011-08-22T12:04:56Z
database_cross_reference: MESH:C531604
id: DOID:0060155
database_cross_reference: UMLS_CUI:C2930796
has_obo_namespace: disease_ontology
definition: An agnosia that is a loss of the ability to visually recognize objects.
created_by: lschriml
imported from: doid.owl

acquired metabolic disease
type: Class
subclass of: disease of metabolism
creation_date: 2011-08-24T02:53:03Z
definition: A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
id: DOID:0060158
created_by: lschriml
has_obo_namespace: disease_ontology
in_subset: DO MGI slim
imported from: doid.owl

organic acidemia
type: Class
subclass of: amino acid metabolic disorder
has_obo_namespace: disease_ontology
creation_date: 2011-08-26T11:17:14Z
id: DOID:0060159
database_cross_reference: GARD:9433
created_by: lschriml
definition: An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
has_exact_synonym: organic acid metabolism disorder
has_exact_synonym: organic aciduria
imported from: doid.owl

childhood spinal muscular atrophy
type: Class
subclass of: spinal muscular atrophy
creation_date: 2011-08-29T01:15:14Z
database_cross_reference: UMLS_CUI:C0700595
created_by: lschriml
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7674
definition: A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood.
id: DOID:0060160
database_cross_reference: NCI:C85076
database_cross_reference: ORDO:70
database_cross_reference: MESH:D014897
has_exact_synonym: survival motor neuron spinal muscular atrophy
has_exact_synonym: spinal muscular atrophies of childhood
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Kennedy's disease
type: Class
subclass of: X-linked recessive disease
subclass of: spinal muscular atrophy
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D055534
database_cross_reference: UMLS_CUI:C1839259
creation_date: 2011-08-29T01:31:03Z
created_by: lschriml
database_cross_reference: NCI:C85233
database_cross_reference: SNOMEDCT_US_2020_03_01:230253001
definition: A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
database_cross_reference: GARD:6818
has_exact_synonym: Kennedy disease
database_cross_reference: OMIM:313200
id: DOID:0060161
has_exact_synonym: SBMA
has_exact_synonym: Spinobulbar Muscular Atrophy
has_exact_synonym: X-Linked Bulbo-Spinal Atrophy
has_exact_synonym: X-linked Spinal and Bulbar Muscular Atrophy
has_exact_synonym: spinal bulbar muscular atrophy
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

dentatorubral-pallidoluysian atrophy
type: Class
subclass of: autosomal dominant cerebellar ataxia
database_cross_reference: OMIM:125370
database_cross_reference: MESH:D020191
definition: An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
database_cross_reference: UMLS_CUI:C0751781
database_cross_reference: NCI:C122653
creation_date: 2011-08-29T01:41:48Z
has_exact_synonym: DRPLA
database_cross_reference: GARD:5643
has_exact_synonym: Haw River Syndrome
has_exact_synonym: Naito-Oyanagi disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:702422004
created_by: lschriml
id: DOID:0060162
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

body dysmorphic disorder
type: Class
subclass of: somatoform disorder
created_by: lschriml
id: DOID:0060163
has_obo_namespace: disease_ontology
creation_date: 2011-09-07T01:38:34Z
definition: A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
has_exact_synonym: body dysmorphia
has_exact_synonym: dysmorphic syndrome
has_exact_synonym: dysmorphophobia
imported from: doid.owl

pain disorder
type: Class
subclass of: somatoform disorder
definition: A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
id: DOID:0060164
created_by: lschriml
creation_date: 2011-09-07T01:42:46Z
has_obo_namespace: disease_ontology
imported from: doid.owl

Kleine-Levin syndrome
type: Class
subclass of: recurrent hypersomnia
database_cross_reference: MESH:D017593
id: DOID:0060165
created_by: lschriml
has_obo_namespace: disease_ontology
creation_date: 2011-09-07T02:46:02Z
database_cross_reference: OMIM:148840
definition: A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
imported from: doid.owl

histidinemia
type: Class
subclass of: histidine metabolism disease
created_by: lschriml
id: DOID:0060168
database_cross_reference: GARD:6661
database_cross_reference: OMIM:235800
database_cross_reference: MESH:C538320
definition: A histidine metabolism disease characterized by a deficiency of the enzyme histidase.
has_obo_namespace: disease_ontology
creation_date: 2011-09-20T12:47:05Z
has_exact_synonym: histidinuria
imported from: doid.owl

benign familial infantile epilepsy
type: Class
subclass of: infancy electroclinical syndrome
creation_date: 2011-10-28T02:55:02Z
definition: An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.
id: DOID:0060169
database_cross_reference: ORDO:306
created_by: lschriml
has_obo_namespace: disease_ontology
comment: Xref MGI.
has_exact_synonym: BFIC
database_cross_reference: OMIM:612627
has_exact_synonym: BFIE
database_cross_reference: GARD:857
database_cross_reference: OMIM:605751
database_cross_reference: GARD:1518
database_cross_reference: OMIM:601764
database_cross_reference: OMIM:607745
has_exact_synonym: benign familial infantile convulsion
has_exact_synonym: benign familial infantile seizures
in_subset: DO rare slim
imported from: doid.owl

juvenile absence epilepsy
type: Class
subclass of: adolescence-adult electroclinical syndrome
has_obo_namespace: disease_ontology
creation_date: 2011-11-08T10:42:18Z
comment: JA:Epilepsy Genetics Kiel
id: DOID:0060172
created_by: lschriml
definition: An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
imported from: doid.owl

Timothy syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
has_alternative_id: DOID:0110649
database_cross_reference: ORDO:65283
creation_date: 2011-11-08T12:52:33Z
database_cross_reference: OMIM:601005
created_by: lschriml
database_cross_reference: ICD10CM:G72.3
definition: A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33.
database_cross_reference: MESH:C536962
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:768
id: DOID:0060173
imported from: doid.owl

succinic semialdehyde dehydrogenase deficiency
type: Class
subclass of: gamma-amino butyric acid metabolism disorder
created_by: lschriml
id: DOID:0060175
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C535803
creation_date: 2011-11-08T02:02:12Z
definition: A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
has_exact_synonym: 4-hydroxybutyric aciduria
database_cross_reference: OMIM:271980
has_exact_synonym: SSADH
has_exact_synonym: gamma-hydroxybutyric aciduria
imported from: doid.owl

gamma-amino butyric acid metabolism disorder
type: Class
subclass of: amino acid metabolic disorder
id: DOID:0060176
has_obo_namespace: disease_ontology
created_by: lschriml
definition: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
creation_date: 2011-11-08T02:02:12Z
imported from: doid.owl

homocarnosinosis
type: Class
subclass of: gamma-amino butyric acid metabolism disorder
subclass of: brain disease
database_cross_reference: MESH:C535328
definition: A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
created_by: lschriml
database_cross_reference: GARD:2730
id: DOID:0060177
has_obo_namespace: disease_ontology
creation_date: 2011-11-08T02:02:12Z
imported from: doid.owl

colitis
type: Class
subclass of: inflammatory bowel disease
database_cross_reference: MESH:D003092
id: DOID:0060180
definition: An inflammatory bowel disease that involves inflammation located_in colon.
database_cross_reference: UMLS_CUI:C0009319
created_by: emitraka
database_cross_reference: SNOMEDCT_US_2020_03_01:64226004
database_cross_reference: EFO:0003872
database_cross_reference: NCI:C26723
database_cross_reference: ICD10CM:K52.9
has_obo_namespace: disease_ontology
creation_date: 2014-09-12T14:31:45Z
in_subset: NCIthesaurus
imported from: doid.owl

physical urticaria
type: Class
subclass of: urticaria
id: DOID:0060220
comment: WD correction.
has_obo_namespace: disease_ontology
created_by: emitraka
definition: An urticaria induced by external physical influences.
creation_date: 2014-11-21T15:51:38Z
imported from: doid.owl

atrial fibrillation
type: Class
subclass of: heart conduction disease
database_cross_reference: NCI:C50466
created_by: emitraka
database_cross_reference: SNOMEDCT_US_2020_03_01:266306001
database_cross_reference: UMLS_CUI:C0004238
database_cross_reference: MESH:D001281
database_cross_reference: ICD9CM:427.31
creation_date: 2015-01-16T14:55:21Z
has_obo_namespace: disease_ontology
id: DOID:0060224
definition: A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
has_exact_synonym: A-fib
in_subset: NCIthesaurus
imported from: doid.owl

gallbladder disease
type: Class
subclass of: gastrointestinal system disease
database_cross_reference: OMIM:609918
database_cross_reference: OMIM:609919
database_cross_reference: ICD9CM:575.9
database_cross_reference: UMLS_CUI:C0016977
creation_date: 2015-02-02T15:48:08Z
database_cross_reference: OMIM:611465
has_alternative_id: DOID:0000000
id: DOID:0060262
database_cross_reference: SNOMEDCT_US_2020_03_01:155807008
database_cross_reference: NCI:C34631
created_by: emitraka
definition: A gastrointestinal system disease that is located_in the gallbladder.
comment: Xref MGI.
database_cross_reference: ICD10CM:K82.9
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D005705
in_subset: NCIthesaurus
imported from: doid.owl

autosomal dominant non-syndromic intellectual disability
type: Class
subclass of: autosomal dominant disease
subclass of: non-syndromic intellectual disability
database_cross_reference: GARD:12107
has_obo_namespace: disease_ontology
created_by: emitraka
id: DOID:0060307
database_cross_reference: ORDO:178469
creation_date: 2015-02-10T16:47:55Z
comment: NT MGI.
definition: A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.
database_cross_reference: OMIM:PS156200
has_exact_synonym: autosomal dominant mental retardation
has_exact_synonym: autosomal dominant non-syndromic mental retardation
in_subset: DO rare slim
imported from: doid.owl

syndromic X-linked intellectual disability
type: Class
subclass of: X-linked monogenic disease
subclass of: syndromic intellectual disability
definition: A syndromic intellectual characterized by an X-linked inheritance pattern.
comment: NT MGI.
created_by: emitraka
creation_date: 2015-02-11T16:14:46Z
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS309510
id: DOID:0060309
has_exact_synonym: syndromic X-linked mental retardation
imported from: doid.owl

ciliopathy
type: Class
subclass of: monogenic disease
subclass of: syndrome
has_obo_namespace: disease_ontology
created_by: emitraka
creation_date: 2015-05-21T10:41:29Z
definition: A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
id: DOID:0060340
imported from: doid.owl

chromosomal deletion syndrome
type: Class
subclass of: chromosomal disease
definition: A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
created_by: elvira
id: DOID:0060388
creation_date: 2015-09-28T15:48:41Z
has_obo_namespace: disease_ontology
imported from: doid.owl

chromosomal duplication syndrome
type: Class
subclass of: chromosomal disease
has_obo_namespace: disease_ontology
id: DOID:0060429
definition: A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
creation_date: 2015-10-02T15:19:23Z
created_by: elvira
imported from: doid.owl

epithelial-stromal TGFBI dystrophy
type: Class
subclass of: corneal dystrophy
creation_date: 2015-10-16T16:39:25Z
has_obo_namespace: disease_ontology
definition: A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.
id: DOID:0060441
created_by: elvira
imported from: doid.owl

stromal dystrophy
type: Class
subclass of: corneal dystrophy
id: DOID:0060442
created_by: elvira
definition: A corneal dystrophy that affects the corneal stroma.
creation_date: 2015-10-16T16:39:25Z
has_obo_namespace: disease_ontology
imported from: doid.owl

corneal endothelial dystrophy
type: Class
subclass of: corneal dystrophy
creation_date: 2015-10-16T16:39:25Z
created_by: elvira
has_obo_namespace: disease_ontology
definition: A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.
id: DOID:0060443
has_exact_synonym: endothelial dystrophy
imported from: doid.owl

respiratory allergy
type: Class
subclass of: allergic disease
definition: An allergic disease that is located_in the respiratory tract.
id: DOID:0060496
has_obo_namespace: disease_ontology
has_exact_synonym: airway allergy
in_subset: DO IEDB slim
imported from: doid.owl

gastrointestinal allergy
type: Class
subclass of: allergic disease
has_obo_namespace: disease_ontology
definition: An allergic disease that is located_in the gastrointestinal tract.
id: DOID:0060502
in_subset: DO IEDB slim
imported from: doid.owl

fruit allergy
type: Class
subclass of: food allergy
has_obo_namespace: disease_ontology
id: DOID:0060503
definition: A food allergy triggered by a plant fruit product.
in_subset: DO IEDB slim
imported from: doid.owl

spinal disease
type: Class
subclass of: bone disease
has_obo_namespace: disease_ontology
id: DOID:0060564
definition: A bone disease that is located_in the spine.
imported from: doid.owl

abdominal obesity-metabolic syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
id: DOID:0060611
definition: A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9226
database_cross_reference: OMIM:PS605552
imported from: doid.owl

autosomal recessive congenital ichthyosis
type: Class
subclass of: autosomal recessive disease
subclass of: physical disorder
subclass of: ichthyosis
database_cross_reference: SNOMEDCT_US_2020_03_01:12215009
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS242300
has_alternative_id: DOID:1699
database_cross_reference: ORDO:281097
id: DOID:0060655
has_exact_synonym: ARCI
database_cross_reference: UMLS_CUI:C0079154
database_cross_reference: MESH:D017490
database_cross_reference: NCI:C84805
definition: An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
database_cross_reference: ICD10CM:Q80.2
has_exact_synonym: lamellar ichthyosis
has_exact_synonym: non bullous congenital ichthyosiform erythroderma
in_subset: NCIthesaurus
imported from: doid.owl

anencephaly
type: Class
subclass of: congenital nervous system abnormality
id: DOID:0060668
definition: A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.
database_cross_reference: ORDO:1048
database_cross_reference: OMIM:206500
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:Q00.0
database_cross_reference: GARD:5808
in_subset: DO rare slim
imported from: doid.owl

hypomyelinating leukodystrophy
type: Class
subclass of: leukodystrophy
id: DOID:0060786
definition: A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system.
has_exact_synonym: HLD
database_cross_reference: OMIM:PS312080
has_obo_namespace: disease_ontology
imported from: doid.owl

hypotonia-cystinuria syndrome
type: Class
subclass of: chromosomal deletion syndrome
subclass of: syndrome
database_cross_reference: ICD10CM:E72.0
database_cross_reference: ORDO:163690
has_exact_synonym: cystinuria with mitochondrial disease
has_obo_namespace: disease_ontology
definition: A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
database_cross_reference: OMIM:606407
id: DOID:0060858
imported from: doid.owl

salmonellosis
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: ICD9CM:003.0
id: DOID:0060859
database_cross_reference: ICD10CM:A02.0
has_obo_namespace: disease_ontology
definition: A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment.
has_exact_synonym: Salmonella infection
imported from: doid.owl

thrombosis
type: Class
subclass of: vascular disease
id: DOID:0060903
has_obo_namespace: disease_ontology
definition: A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.
database_cross_reference: MESH:D013927
imported from: doid.owl

legume allergy
type: Class
subclass of: fruit allergy
id: DOID:0060904
definition: A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product.
has_exact_synonym: Fabaceae allergy
has_obo_namespace: disease_ontology
imported from: doid.owl

blastoma
type: Class
subclass of: cell type cancer
definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells.
has_obo_namespace: disease_ontology
id: DOID:0070003
imported from: doid.owl

myeloid neoplasm
type: Class
subclass of: bone marrow cancer
definition: A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.
id: DOID:0070004
has_obo_namespace: disease_ontology
has_exact_synonym: myeloma
imported from: doid.owl

absence epilepsy
type: Class
subclass of: electroclinical syndrome
id: DOID:0070309
definition: An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram.
database_cross_reference: MESH:D004832
has_obo_namespace: disease_ontology
imported from: doid.owl

thiamine deficiency disease
type: Class
subclass of: nutritional deficiency disease
database_cross_reference: SNOMEDCT_US_2020_03_01:399357009
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34418
definition: A nutritional deficiency disease that is characterized by low levels of thiamine.
id: DOID:0070313
in_subset: NCIthesaurus
imported from: doid.owl

mitochondrial DNA depletion syndrome
type: Class
subclass of: mitochondrial metabolism disease
definition: A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.
id: DOID:0070329
database_cross_reference: OMIM:PS603041
database_cross_reference: GARD:13643
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:35698
has_exact_synonym: mtDNA depletion syndrome
imported from: doid.owl

muscular disease
type: Class
subclass of: musculoskeletal system disease
id: DOID:0080000
has_obo_namespace: disease_ontology
definition: A musculoskeletal system disease that affects the muscles.
imported from: doid.owl

bone disease
type: Class
subclass of: connective tissue disease
has_alternative_id: DOID:1290
database_cross_reference: UMLS_CUI:C0005940
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D001847
database_cross_reference: ICD10CM:M89.9
id: DOID:0080001
definition: A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
database_cross_reference: SNOMEDCT_US_2020_03_01:76069003
has_related_synonym: skeletal disease
imported from: doid.owl

bone remodeling disease
type: Class
subclass of: bone disease
definition: A bone disease that results_in formation or resorption abnormalities located_in bone.
id: DOID:0080005
has_obo_namespace: disease_ontology
imported from: doid.owl

bone development disease
type: Class
subclass of: bone disease
definition: A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
id: DOID:0080006
has_obo_namespace: disease_ontology
imported from: doid.owl

bone deterioration disease
type: Class
subclass of: bone structure disease
definition: A bone structure disease that results_in change or damage of structure located_in bone.
has_obo_namespace: disease_ontology
id: DOID:0080007
imported from: doid.owl

ischemic bone disease
type: Class
subclass of: bone disease
id: DOID:0080008
definition: A bone disease that results_in an interruption of blood supply located_in bone.
has_obo_namespace: disease_ontology
imported from: doid.owl

X-linked dominant disease
type: Class
subclass of: X-linked monogenic disease
has_obo_namespace: disease_ontology
definition: A X-linked monogenic disease that has_material_basis_in dominant inheritance.
id: DOID:0080009
imported from: doid.owl

bone structure disease
type: Class
subclass of: spinal disease
definition: A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
id: DOID:0080010
has_obo_namespace: disease_ontology
imported from: doid.owl

bone resorption disease
type: Class
subclass of: bone remodeling disease
definition: A bone remodeling disease that results in an abnormal decrease of bone density or mass.
id: DOID:0080011
database_cross_reference: MESH:D001862
has_obo_namespace: disease_ontology
imported from: doid.owl

X-linked recessive disease
type: Class
subclass of: X-linked monogenic disease
has_obo_namespace: disease_ontology
definition: A X-linked monogenic disease that has_material_basis_in recessive inheritance.
id: DOID:0080012
imported from: doid.owl

chromosomal disease
type: Class
subclass of: genetic disease
has_obo_namespace: disease_ontology
definition: A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
id: DOID:0080014
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
imported from: doid.owl

physical disorder
type: Class
subclass of: disease
has_exact_synonym: congenital disorder
id: DOID:0080015
has_obo_namespace: disease_ontology
definition: A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
imported from: doid.owl

spina bifida
type: Class
subclass of: neural tube defect
definition: A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.
database_cross_reference: ICD10CM:Q05
database_cross_reference: GARD:7673
id: DOID:0080016
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0080178
database_cross_reference: SNOMEDCT_US_2020_03_01:156888006
database_cross_reference: NCI:C101214
database_cross_reference: ICD9CM:741
database_cross_reference: MESH:D016135
imported from: doid.owl

metaphyseal dysplasia
type: Class
subclass of: osteochondrodysplasia
id: DOID:0080019
definition: An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.
has_exact_synonym: Bakwin-Krida syndrome
database_cross_reference: OMIM:215050
has_exact_synonym: Pyle's disease
has_exact_synonym: Pyle-Cohn syndrome
has_obo_namespace: disease_ontology
imported from: doid.owl

spondyloepimetaphyseal dysplasia
type: Class
subclass of: spinal disease
subclass of: osteochondrodysplasia
id: DOID:0080027
has_obo_namespace: disease_ontology
definition: An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
imported from: doid.owl

fibrous dysplasia
type: Class
subclass of: bone remodeling disease
definition: A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6444
id: DOID:0080031
imported from: doid.owl

craniometaphyseal dysplasia
type: Class
subclass of: osteosclerosis
database_cross_reference: ORDO:1522
definition: An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.
id: DOID:0080033
comment: Xref MGI.
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS123000
in_subset: DO rare slim
imported from: doid.owl

SOST-related sclerosing bone dysplasia
type: Class
subclass of: autosomal recessive disease
subclass of: hyperostosis
has_obo_namespace: disease_ontology
id: DOID:0080036
has_alternative_id: DOID:0080035
database_cross_reference: OMIM:239100
definition: A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
database_cross_reference: ORDO:3152
has_exact_synonym: van Buchem disease
imported from: doid.owl

pycnodysostosis
type: Class
subclass of: autosomal recessive disease
subclass of: osteochondrodysplasia
id: DOID:0080038
definition: An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
database_cross_reference: ORDO:763
database_cross_reference: OMIM:265800
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D058631
database_cross_reference: GARD:4611
imported from: doid.owl

hypochondroplasia
type: Class
subclass of: autosomal dominant disease
subclass of: osteochondrodysplasia
definition: An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
database_cross_reference: ORDO:429
database_cross_reference: UMLS_CUI:C0410529
database_cross_reference: ICD10CM:Q77.4
database_cross_reference: MESH:C562937
database_cross_reference: SNOMEDCT_US_2020_03_01:205468002
database_cross_reference: GARD:6724
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:146000
id: DOID:0080041
database_cross_reference: NCI:C118697
imported from: doid.owl

achondrogenesis
type: Class
subclass of: osteochondrodysplasia
database_cross_reference: GARD:2882
id: DOID:0080043
database_cross_reference: OMIM:PS200600
definition: An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
has_obo_namespace: disease_ontology
imported from: doid.owl

Kniest dysplasia
type: Class
subclass of: autosomal dominant disease
subclass of: osteochondrodysplasia
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C537207
definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
database_cross_reference: OMIM:156550
database_cross_reference: GARD:6841
id: DOID:0080045
imported from: doid.owl

Stickler syndrome
type: Class
subclass of: syndrome
database_cross_reference: ORDO:828
definition: A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:10782
database_cross_reference: OMIM:PS108300
id: DOID:0080046
has_obo_namespace: disease_ontology
imported from: doid.owl

pseudoachondroplasia
type: Class
subclass of: autosomal dominant disease
subclass of: osteochondrodysplasia
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14800
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:0080047
database_cross_reference: MESH:C535819
database_cross_reference: GARD:4540
database_cross_reference: OMIM:177170
definition: An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
has_exact_synonym: PSEUDOACHONDROPLASIA
has_exact_synonym: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
has_exact_synonym: pseudoachondroplastic dysplasia
imported from: doid.owl

acromesomelic dysplasia
type: Class
subclass of: osteochondrodysplasia
has_obo_namespace: disease_ontology
id: DOID:0080049
database_cross_reference: ORDO:93437
definition: An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb dwarfism.
database_cross_reference: GARD:6
imported from: doid.owl

intestinal pseudo-obstruction
type: Class
subclass of: colonic disease
has_exact_synonym: Chronic intestinal pseudo-obstruction
definition: A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:3878
database_cross_reference: GARD:12744
database_cross_reference: MESH:D007418
database_cross_reference: UMLS_CUI:C0021847
database_cross_reference: GARD:6789
has_exact_synonym: neuronal intestinal dysplasia
database_cross_reference: SNOMEDCT_US_2020_03_01:715201005
created_by: lschriml
database_cross_reference: ORDO:2978
database_cross_reference: NCI:C34733
creation_date: 2015-10-19T14:28:30Z
id: DOID:0080072
in_subset: NCIthesaurus
imported from: doid.owl

neural tube defect
type: Class
subclass of: physical disorder
created_by: lschriml
database_cross_reference: GARD:4016
id: DOID:0080074
has_obo_namespace: disease_ontology
definition: A physical disorder characterized by incomplete closure of the neural tube.
database_cross_reference: OMIM:601634
database_cross_reference: OMIM:301410
creation_date: 2015-10-19T14:41:42Z
imported from: doid.owl

Alpers-Huttenlocher syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: mitochondrial DNA depletion syndrome
has_exact_synonym: mitochondrial DNA depletion syndrome 4a
id: DOID:0080122
database_cross_reference: ORDO:726
database_cross_reference: NCI:C35257
definition: A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26.
has_exact_synonym: Alper's syndrome
has_exact_synonym: Alpers' disease or gray-matter degeneration
database_cross_reference: UMLS_CUI:C0205710
database_cross_reference: ICD10CM:G31.81
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002549
has_alternative_id: DOID:1442
has_exact_synonym: Alpers syndrome
database_cross_reference: OMIM:203700
has_exact_synonym: Diffuse Cerebral Sclerosis of Schilder
database_cross_reference: GARD:5783
has_exact_synonym: Alpers progressive infantile poliodystrophy
database_cross_reference: SNOMEDCT_US_2020_03_01:20415001
has_exact_synonym: Alpers disease
has_exact_synonym: progressive sclerosing poliodystrophy
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

mitochondrial DNA depletion syndrome 7
type: Class
subclass of: autosomal recessive disease
subclass of: mitochondrial DNA depletion syndrome
id: DOID:0080126
database_cross_reference: MESH:C535523
database_cross_reference: OMIM:271245
database_cross_reference: GARD:4062
has_alternative_id: DOID:0050556
has_exact_synonym: OHAHA SYNDROME
has_obo_namespace: disease_ontology
definition: A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.
has_exact_synonym: infantile onset spinocerebellar ataxia
imported from: doid.owl

lysosomal and lipase deficiency
type: Class
subclass of: lipid storage disease
has_obo_namespace: disease_ontology
id: DOID:0080217
definition: A lipid storage disease characterized by lysosomal and lipase deficiency.
database_cross_reference: OMIM:278000
imported from: doid.owl

peripheral nervous system benign neoplasm
type: Class
subclass of: central nervous system benign neoplasm
has_obo_namespace: disease_ontology
id: DOID:0080320
definition: A central nervous system benign neoplasm the is located_in the peripheral nervous system.
imported from: doid.owl

autonomic nervous system benign neoplasm
type: Class
subclass of: peripheral nervous system benign neoplasm
definition: A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system.
id: DOID:0080321
has_obo_namespace: disease_ontology
imported from: doid.owl

polycystic kidney disease
type: Class
subclass of: cystic kidney disease
database_cross_reference: OMIM:PS173900
id: DOID:0080322
has_obo_namespace: disease_ontology
definition: A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.
imported from: doid.owl

hepatobiliary system cancer
type: Class
subclass of: gastrointestinal system cancer
id: DOID:0080355
has_obo_namespace: disease_ontology
definition: A gastrointestinal system cancer that is located_in the hepatobiliary system.
imported from: doid.owl

malignant adenoma
type: Class
subclass of: cell type cancer
has_obo_namespace: disease_ontology
definition: A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.
id: DOID:0080364
imported from: doid.owl

epididymis disease
type: Class
subclass of: male reproductive system disease
definition: A male reproductive system disease that is located_in the epididymis.
id: DOID:0080373
has_obo_namespace: disease_ontology
imported from: doid.owl

peroxisomal biogenesis disorder
type: Class
subclass of: peroxisomal disease
database_cross_reference: OMIM:PS214100
has_obo_namespace: disease_ontology
id: DOID:0080377
definition: A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes.
has_alternative_id: DOID:0080378
imported from: doid.owl

Dravet syndrome
type: Class
subclass of: early infantile epileptic encephalopathy
database_cross_reference: OMIM:607208
database_cross_reference: GARD:10430
has_obo_namespace: disease_ontology
definition: An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
has_alternative_id: DOID:0060171
database_cross_reference: ORDO:33069
id: DOID:0080422
has_exact_synonym: early infantile epileptic encephalopathy 6
in_subset: DO FlyBase slim
imported from: doid.owl

mucolipidosis
type: Class
subclass of: lipid storage disease
id: DOID:0080488
has_obo_namespace: disease_ontology
definition: A lipid storage disease that is characterized by increased storage of carbohydrates and lipids.
imported from: doid.owl

thyroid gland adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: thyroid gland carcinoma
id: DOID:0080524
database_cross_reference: NCI:C27380
has_obo_namespace: disease_ontology
definition: A thyroid gland carcinoma that derives_from epithelial cells of glandular origin.
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

differentiated thyroid gland carcinoma
type: Class
subclass of: thyroid gland adenocarcinoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7153
definition: A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation.
id: DOID:0080525
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

hyper IgM syndrome
type: Class
subclass of: hyperimmunoglobulin syndrome
database_cross_reference: NCI:C3990
has_obo_namespace: disease_ontology
id: DOID:0080544
database_cross_reference: OMIM:PS308230
definition: A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.
has_exact_synonym: immunodeficiency with hyper-IgM
imported from: doid.owl

hyper IgE syndrome
type: Class
subclass of: hyperimmunoglobulin syndrome
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS147060
id: DOID:0080545
definition: A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.
database_cross_reference: GARD:10956
has_exact_synonym: hyper immunoglobulin E syndrome
imported from: doid.owl

Coronavirus infectious disease
type: Class
subclass of: viral infectious disease
definition: A viral infectious disease that has_material_basis_in Coronavirus.
has_obo_namespace: disease_ontology
id: DOID:0080599
imported from: doid.owl

germ cell benign neoplasm
type: Class
subclass of: cell type benign neoplasm
definition: A benign neoplasm that derives_from germ cells.
id: DOID:0080601
has_obo_namespace: disease_ontology
imported from: doid.owl

benign teratoma
type: Class
subclass of: germ cell benign neoplasm
definition: A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C67107
id: DOID:0080602
imported from: doid.owl

nephroma
type: Class
subclass of: kidney cortex disease
subclass of: kidney benign neoplasm
has_exact_synonym: benign nephroma
has_obo_namespace: disease_ontology
definition: A kidney benign neoplasm that is located_in the kidney cortex.
id: DOID:0080615
imported from: doid.owl

kidney cortex disease
type: Class
subclass of: kidney disease
has_obo_namespace: disease_ontology
definition: A kidney disease that is located_in the kidney cortex.
id: DOID:0080616
imported from: doid.owl

auditory system benign neoplasm
type: Class
subclass of: sensory organ benign neoplasm
subclass of: auditory system disease
id: DOID:0080619
definition: A sensory system benign neoplasm that is located in the auditory system.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C8417
imported from: doid.owl

B-lymphoblastic leukemia/lymphoma
type: Class
subclass of: B-cell acute lymphoblastic leukemia
definition: A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.
has_exact_synonym: B-ALL
database_cross_reference: NCI:C8936
has_obo_namespace: disease_ontology
has_exact_synonym: precursor B lymphoblastic lymphoma/leukemia
has_alternative_id: DOID:7061
id: DOID:0080630
database_cross_reference: UMLS_CUI:C0862030
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

B-cell acute lymphoblastic leukemia
type: Class
subclass of: lymphoma
subclass of: acute lymphoblastic leukemia
has_exact_synonym: B-cell acute lymphocytic leukemia
has_obo_namespace: disease_ontology
definition: An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood.
id: DOID:0080638
database_cross_reference: NCI:C8644
has_exact_synonym: B acute lymphoblastic leukemia
in_subset: DO cancer slim
imported from: doid.owl

bone sarcoma
type: Class
subclass of: sarcoma
subclass of: bone cancer
id: DOID:0080639
definition: A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
has_obo_namespace: disease_ontology
imported from: doid.owl

RASopathy
type: Class
subclass of: syndrome
id: DOID:0080690
has_obo_namespace: disease_ontology
definition: A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
has_exact_synonym: RAS/mitogen-activated protein kinase syndrome
imported from: doid.owl

acute asthma
type: Class
subclass of: asthma
has_obo_namespace: disease_ontology
id: DOID:0080810
definition: An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.
imported from: doid.owl

low-grade glioma
type: Class
subclass of: malignant glioma
definition: A malignant glioma that originate from two types of glial cells, astrocytes and oligodendrocytes.
id: DOID:0080829
database_cross_reference: NCI:C132067
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
imported from: doid.owl

pediatric low-grade glioma
type: Class
subclass of: low-grade glioma
has_obo_namespace: disease_ontology
id: DOID:0080830
definition: A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.
in_subset: DO cancer slim
imported from: doid.owl

hypogonadotropic hypogonadism
type: Class
subclass of: hypogonadism
has_obo_namespace: disease_ontology
definition: A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.
has_alternative_id: DOID:7455
has_exact_synonym: hypogonadotropism
database_cross_reference: ICD10CM:E23.0
database_cross_reference: OMIM:PS147950
id: DOID:0090070
database_cross_reference: ORDO:432
database_cross_reference: ORDO:478
has_exact_synonym: congenital idiopathic hypogonadotropic hypogonadism
has_exact_synonym: isolated congenital gonadotropin deficiency
imported from: doid.owl

neuronal ceroid lipofuscinosis 3
type: Class
subclass of: neuronal ceroid lipofuscinosis
subclass of: genetic disease
database_cross_reference: ORDO:228346
database_cross_reference: ICD10CM:E75.4
definition: A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
has_exact_synonym: Batten disease
database_cross_reference: GARD:5897
database_cross_reference: OMIM:204200
has_obo_namespace: disease_ontology
has_exact_synonym: CLN3
id: DOID:0110731
has_alternative_id: DOID:0050756
has_exact_synonym: juvenile neuronal ceroid lipofuscinosis
in_subset: DO FlyBase slim
imported from: doid.owl

neurodegeneration with brain iron accumulation
type: Class
subclass of: neurodegenerative disease
database_cross_reference: UMLS_CUI:C2931845
database_cross_reference: GARD:11899
database_cross_reference: MESH:C538421
id: DOID:0110734
definition: A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.
has_exact_synonym: NBIA
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:385
database_cross_reference: OMIM:PS234200
imported from: doid.owl

congenital muscular dystrophy-dystroglycanopathy type A
type: Class
subclass of: muscular dystrophy-dystroglycanopathy
id: DOID:0111229
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS236670
definition: A congenital muscular dystrophy-dystroglycanopathy type A characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.
has_exact_synonym: MDDGA
database_cross_reference: ORDO:352687
has_exact_synonym: congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
has_exact_synonym: klissencephaly type 2 with muscular and ocular involvement
imported from: doid.owl

familial chylomicronemia syndrome
type: Class
subclass of: familial hyperlipidemia
database_cross_reference: ORDO:444490
id: DOID:0111417
has_obo_namespace: disease_ontology
definition: A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.
imported from: doid.owl

Aarskog syndrome
type: Class
subclass of: syndrome
has_exact_synonym: Aarskog-Scott syndrome
definition: A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature.
database_cross_reference: ORDO:915
has_exact_synonym: faciogenital dysplasia
has_obo_namespace: disease_ontology
id: DOID:0111824
has_exact_synonym: faciodigitogenital syndrome
imported from: doid.owl

trichothiodystrophy
type: Class
subclass of: syndrome
database_cross_reference: UMLS_CUI:C1955934
database_cross_reference: MESH:D054463
has_obo_namespace: disease_ontology
id: DOID:0111866
database_cross_reference: SNOMEDCT_US_2020_03_01:723551003
definition: A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.
has_exact_synonym: TTD
database_cross_reference: NCI:C4924
database_cross_reference: ORDO:33364
imported from: doid.owl

nonphotosensitive trichothiodystrophy
type: Class
subclass of: trichothiodystrophy
id: DOID:0111867
definition: A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation.
has_obo_namespace: disease_ontology
imported from: doid.owl

combined immunodeficiency
type: Class
subclass of: primary immunodeficiency disease
definition: A primary immunodeficiency disease that involves multiple components of the immune system.
has_obo_namespace: disease_ontology
id: DOID:0111962
imported from: doid.owl

intestinal infectious disease
type: Class
subclass of: intestinal disease
database_cross_reference: ICD10CM:A00-A09
definition: An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites.
database_cross_reference: SNOMEDCT_US_2020_03_01:187266003
comment: Updating outdated UMLS CUI.
has_alternative_id: DOID:5270
has_obo_namespace: disease_ontology
has_alternative_id: DOID:10960
database_cross_reference: ICD9CM:001-009.99
id: DOID:100
database_cross_reference: UMLS_CUI:C0178238
has_alternative_id: DOID:12509
has_exact_synonym: bacterial enteritis
imported from: doid.owl

sensorineural hearing loss
type: Class
subclass of: inner ear disease
database_cross_reference: UMLS_CUI:C0018784
database_cross_reference: MESH:D006319
database_cross_reference: ICD9CM:389.1
database_cross_reference: NCI:C26739
has_alternative_id: DOID:12112
database_cross_reference: SNOMEDCT_US_2020_03_01:60700002
has_obo_namespace: disease_ontology
has_alternative_id: DOID:12114
id: DOID:10003
has_alternative_id: DOID:11053
has_exact_synonym: High Frequency Hearing Loss
has_exact_synonym: High frequency deafness
has_exact_synonym: Perceptive deafness
has_exact_synonym: Perceptive hearing loss
has_exact_synonym: Perceptive hearing loss or deafness
has_exact_synonym: Sensorineural Deafness
has_exact_synonym: Sensory hearing loss
has_exact_synonym: central hearing loss
has_exact_synonym: high-frequency hearing loss
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

thyroid lymphoma
type: Class
subclass of: lymphoma
subclass of: thyroid gland cancer
id: DOID:10011
database_cross_reference: NCI:C5265
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1336753
in_subset: NCIthesaurus
imported from: doid.owl

multiple endocrine neoplasia type 1
type: Class
subclass of: autosomal dominant disease
subclass of: multiple endocrine neoplasia
id: DOID:10017
database_cross_reference: MESH:D018761
database_cross_reference: GARD:3829
database_cross_reference: UMLS_CUI:C0025267
database_cross_reference: ICD9CM:258.01
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:E31.21
definition: A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
has_exact_synonym: MEN type I
database_cross_reference: ORDO:652
database_cross_reference: SNOMEDCT_US_2020_03_01:30664006
database_cross_reference: OMIM:131100
database_cross_reference: NCI:C3225
has_exact_synonym: Wermer syndrome
has_exact_synonym: Wermer's syndrome
has_obo_namespace: disease_ontology
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

endometritis
type: Class
subclass of: endometrial disease
database_cross_reference: NCI:C26764
id: DOID:1002
definition: An endometrial disease that is characterized by inflammation of the endometrium.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004716
database_cross_reference: UMLS_CUI:C0014179
database_cross_reference: SNOMEDCT_US_2020_03_01:155975003
in_subset: NCIthesaurus
imported from: doid.owl

ampulla of Vater cancer
type: Class
subclass of: duodenum cancer
subclass of: bile duct cancer
database_cross_reference: UMLS_CUI:C0153454
database_cross_reference: ICD9CM:156.2
database_cross_reference: SNOMEDCT_US_2020_03_01:93668007
id: DOID:10020
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3536
database_cross_reference: ICD10CM:C24.1
has_exact_synonym: malignant tumour of ampulla of vater
in_subset: NCIthesaurus
imported from: doid.owl

duodenum cancer
type: Class
subclass of: small intestine cancer
subclass of: duodenum disease
has_alternative_id: DOID:6072
database_cross_reference: UMLS_CUI:C0541912
database_cross_reference: UMLS_CUI:C0153426
database_cross_reference: SNOMEDCT_US_2020_03_01:363403002
has_exact_synonym: Duodenal cancer
database_cross_reference: MESH:D004379
has_obo_namespace: disease_ontology
definition: A small intestine cancer that is located_in the beginning section of the small intestine.
database_cross_reference: NCI:C9328
database_cross_reference: NCI:C4803
database_cross_reference: SNOMEDCT_US_2020_03_01:254570009
database_cross_reference: ICD10CM:C17.0
id: DOID:10021
database_cross_reference: ICD9CM:152.0
has_exact_synonym: cancer of duodenum
has_exact_synonym: duodenal neoplasm
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

migraine with aura
type: Class
subclass of: migraine
database_cross_reference: OMIM:609670
has_alternative_id: DOID:10025
database_cross_reference: OMIM:609179
database_cross_reference: SNOMEDCT_US_2020_03_01:155047002
id: DOID:10024
database_cross_reference: NCI:C117005
database_cross_reference: ICD10CM:G43.1
database_cross_reference: MESH:D020325
definition: A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
database_cross_reference: ICD9CM:346.0
database_cross_reference: UMLS_CUI:C0154723
has_obo_namespace: disease_ontology
comment: Xref MGI.
has_exact_synonym: classic migraine
in_subset: NCIthesaurus
imported from: doid.owl

tabes dorsalis
type: Class
subclass of: tertiary neurosyphilis
database_cross_reference: ICD10CM:A52.11
id: DOID:10027
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35057
database_cross_reference: SNOMEDCT_US_2020_03_01:266134000
database_cross_reference: UMLS_CUI:C0039223
definition: A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction.
database_cross_reference: MESH:D013606
database_cross_reference: GARD:8730
database_cross_reference: ICD9CM:094.0
has_exact_synonym: Posterior spinal sclerosis
has_exact_synonym: Tabes dorsalis - neurosyphilis
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

pelvic inflammatory disease
type: Class
subclass of: disease by infectious agent
subclass of: female reproductive system disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3889
database_cross_reference: SNOMEDCT_US_2020_03_01:266648001
id: DOID:1003
definition: A female reproductive system disease that is characterized by an infection of the female reproductive organs.
database_cross_reference: UMLS_CUI:C0242172
database_cross_reference: MESH:D000292
database_cross_reference: ICD10CM:N73.9
database_cross_reference: ICD9CM:614.9
has_exact_synonym: PID
in_subset: NCIthesaurus
imported from: doid.owl

cycloplegia
type: Class
subclass of: eye accommodation disease
database_cross_reference: ICD9CM:367.51
has_exact_synonym: Ciliary muscle paresis
database_cross_reference: SNOMEDCT_US_2020_03_01:68158006
has_obo_namespace: disease_ontology
id: DOID:10033
database_cross_reference: UMLS_CUI:C0235238
database_cross_reference: ICD10CM:H52.52
has_exact_synonym: Cycloplegic paralysis of accommodation
has_exact_synonym: Paresis of accommodation
imported from: doid.owl

eye accommodation disease
type: Class
subclass of: eye disease
id: DOID:10034
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H52.5
database_cross_reference: UMLS_CUI:C0152198
definition: An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image.
database_cross_reference: ICD9CM:367.5
database_cross_reference: SNOMEDCT_US_2020_03_01:155137002
imported from: doid.owl

dysplastic nevus syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: UMLS_CUI:C0205747
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:10041
database_cross_reference: MESH:D004416
has_obo_namespace: disease_ontology
has_exact_synonym: FAMM syndrome
has_exact_synonym: familial atypical multiple mole-melanoma
imported from: doid.owl

nodular malignant melanoma
type: Class
subclass of: skin melanoma
database_cross_reference: GARD:9961
definition: A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4225
database_cross_reference: SNOMEDCT_US_2020_03_01:2142002
id: DOID:10047
database_cross_reference: UMLS_CUI:C0334424
has_exact_synonym: nodular melanoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

endometrial disease
type: Class
subclass of: uterine disease
id: DOID:1005
definition: A uterine disease that is located_in the endometrium.
database_cross_reference: UMLS_CUI:C0151622
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:418632009
database_cross_reference: NCI:C3504
in_subset: NCIthesaurus
imported from: doid.owl

subglottis neoplasm
type: Class
subclass of: laryngeal benign neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0345746
database_cross_reference: SNOMEDCT_US_2020_03_01:126696001
database_cross_reference: NCI:C4426
id: DOID:10069
has_exact_synonym: Subglottic tumor
in_subset: NCIthesaurus
imported from: doid.owl

hymenolepiasis
type: Class
subclass of: parasitic helminthiasis infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D006925
database_cross_reference: ICD10CM:B71.0
database_cross_reference: SNOMEDCT_US_2020_03_01:187153007
database_cross_reference: GARD:2787
database_cross_reference: NCI:C84768
definition: A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
database_cross_reference: ICD9CM:123.6
id: DOID:10074
has_exact_synonym: Hymenolepis infectious disease
database_cross_reference: UMLS_CUI:C0020413
has_exact_synonym: dwarf tapeworm infection
in_subset: NCIthesaurus
imported from: doid.owl

diphyllobothriasis
type: Class
subclass of: parasitic helminthiasis infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:123.4
database_cross_reference: MESH:D004169
database_cross_reference: NCI:C128391
database_cross_reference: UMLS_CUI:C0012561
database_cross_reference: SNOMEDCT_US_2020_03_01:187151009
database_cross_reference: GARD:942
id: DOID:10075
database_cross_reference: ICD10CM:B70.0
definition: A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
has_exact_synonym: DiphylloboInOwlthrium infection
has_exact_synonym: fish tapeworm
in_subset: NCIthesaurus
imported from: doid.owl

cysticercosis
type: Class
subclass of: taeniasis
subclass of: muscular disease
subclass of: heart disease
subclass of: central nervous system disease
subclass of: skin disease
subclass of: eye disease
has_alternative_id: DOID:14424
database_cross_reference: NCI:C34520
database_cross_reference: GARD:8194
database_cross_reference: UMLS_CUI:C0010678
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:B69
has_alternative_id: DOID:10078
id: DOID:10079
database_cross_reference: SNOMEDCT_US_2020_03_01:59051007
definition: A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
database_cross_reference: ICD9CM:123.1
database_cross_reference: MESH:D003551
has_exact_synonym: Pork tapeworm infection
has_exact_synonym: Tapeworm infection: intestinal taenia solum
has_exact_synonym: Tapeworm infection: pork
has_exact_synonym: intestinal taenia solium infection
has_exact_synonym: neurocysticercosis
has_exact_synonym: tenia solium infectious disease
in_subset: NCIthesaurus
imported from: doid.owl

sparganosis
type: Class
subclass of: urinary system disease
subclass of: inner ear disease
subclass of: breast disease
subclass of: lung disease
subclass of: parasitic helminthiasis infectious disease
subclass of: brain disease
database_cross_reference: NCI:C35030
database_cross_reference: MESH:D013031
database_cross_reference: ICD10CM:B70.1
database_cross_reference: UMLS_CUI:C0037753
database_cross_reference: ICD9CM:123.5
database_cross_reference: SNOMEDCT_US_2020_03_01:187152002
id: DOID:10080
definition: A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.
has_exact_synonym: Infection by Sparganum
has_exact_synonym: Sparganosis
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

intracranial abscess
type: Class
subclass of: central nervous system disease
id: DOID:10095
definition: A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull.
database_cross_reference: SNOMEDCT_US_2020_03_01:192738001
database_cross_reference: NCI:C34734
database_cross_reference: ICD9CM:324.0
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0021874
in_subset: NCIthesaurus
imported from: doid.owl

sleeping sickness
type: Class
subclass of: trypanosomiasis
database_cross_reference: ICD10CM:B56
definition: A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.
database_cross_reference: NCI:C84541
database_cross_reference: SNOMEDCT_US_2020_03_01:27031003
database_cross_reference: KEGG:05143
has_exact_synonym: African sleeping sickness
has_exact_synonym: African trypanosomiasis
database_cross_reference: MESH:D014353
database_cross_reference: UMLS_CUI:C0041228
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:086.5
id: DOID:10112
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

trypanosomiasis
type: Class
subclass of: parasitic protozoa infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:266205000
database_cross_reference: MESH:D014352
database_cross_reference: ICD9CM:086
definition: A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
id: DOID:10113
database_cross_reference: UMLS_CUI:C0041227
database_cross_reference: ICD10CM:B57.2
has_obo_namespace: disease_ontology
imported from: doid.owl

pigmentation disease
type: Class
subclass of: skin disease
definition: A skin disease that is characterized by discoloration of the skin.
has_obo_namespace: disease_ontology
id: DOID:10123
database_cross_reference: ICD9CM:709.09
database_cross_reference: UMLS_CUI:C0375489
imported from: doid.owl

corneal disease
type: Class
subclass of: eye disease
database_cross_reference: UMLS_CUI:C0010034
has_alternative_id: DOID:2284
database_cross_reference: ICD10CM:H18.9
database_cross_reference: SNOMEDCT_US_2020_03_01:15250008
database_cross_reference: NCI:C26731
id: DOID:10124
definition: An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.
database_cross_reference: ICD9CM:371.9
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D003316
in_subset: NCIthesaurus
imported from: doid.owl

keratoconus
type: Class
subclass of: corneal disease
database_cross_reference: OMIM:614628
database_cross_reference: OMIM:614629
database_cross_reference: OMIM:148300
database_cross_reference: NCI:C26806
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0022578
database_cross_reference: SNOMEDCT_US_2020_03_01:267733008
database_cross_reference: MESH:D007640
database_cross_reference: OMIM:608932
id: DOID:10126
comment: Xref MGI.
database_cross_reference: OMIM:609271
database_cross_reference: ICD9CM:371.6
definition: A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
database_cross_reference: ICD10CM:H18.6
database_cross_reference: OMIM:614622
database_cross_reference: OMIM:614623
database_cross_reference: ORDO:156071
database_cross_reference: OMIM:608586
database_cross_reference: GARD:6824
has_exact_synonym: conical cornea
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

venous insufficiency
type: Class
subclass of: vein disease
database_cross_reference: NCI:C127822
id: DOID:10128
database_cross_reference: UMLS_CUI:C0042485
database_cross_reference: MESH:D014689
database_cross_reference: ICD9CM:459.81
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:20696009
definition: A vein disease that is characterized by impaired flow of blood through the veins.
has_exact_synonym: peripheral venous insufficiency
in_subset: NCIthesaurus
imported from: doid.owl

psychosexual disorder
type: Class
subclass of: sexual disorder
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:302.79
database_cross_reference: UMLS_CUI:C0033951
id: DOID:10132
imported from: doid.owl

xerophthalmia
type: Class
subclass of: dry eye syndrome
has_exact_synonym: Conjunctival xerosis
database_cross_reference: NCI:C34503
database_cross_reference: UMLS_CUI:C0043349
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E50.7
database_cross_reference: MESH:D014985
database_cross_reference: ICD9CM:375.15
id: DOID:10138
database_cross_reference: SNOMEDCT_US_2020_03_01:193887002
in_subset: NCIthesaurus
imported from: doid.owl

conjunctival degeneration
type: Class
subclass of: conjunctival disease
subclass of: eye degenerative disease
id: DOID:10139
database_cross_reference: UMLS_CUI:C0155160
database_cross_reference: SNOMEDCT_US_2020_03_01:40787005
database_cross_reference: ICD9CM:372.50
database_cross_reference: ICD10CM:H11.10
has_obo_namespace: disease_ontology
imported from: doid.owl

dry eye syndrome
type: Class
subclass of: lacrimal apparatus disease
id: DOID:10140
database_cross_reference: SNOMEDCT_US_2020_03_01:193980001
has_exact_synonym: dry eye disease
database_cross_reference: NCI:C34553
database_cross_reference: MESH:D015352
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0013238
database_cross_reference: ICD10CM:H04.12
definition: A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.
has_exact_synonym: Tear film insufficiency
in_subset: NCIthesaurus
imported from: doid.owl

small intestine cancer
type: Class
subclass of: intestinal cancer
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9385
database_cross_reference: NCI:C7523
database_cross_reference: ICD9CM:152.9
database_cross_reference: SNOMEDCT_US_2020_03_01:363509000
definition: An intestinal cancer that is located_in the small intestine.
database_cross_reference: UMLS_CUI:C0153425
database_cross_reference: ICD10CM:C17
id: DOID:10154
in_subset: NCIthesaurus
imported from: doid.owl

intestinal cancer
type: Class
subclass of: gastrointestinal system cancer
subclass of: intestinal disease
database_cross_reference: UMLS_CUI:C0346627
definition: A gastrointestinal system cancer that is located_in the intestine.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C26.0
database_cross_reference: MESH:D007414
database_cross_reference: NCI:C4572
id: DOID:10155
database_cross_reference: SNOMEDCT_US_2020_03_01:93838000
database_cross_reference: ICD9CM:159.0
has_exact_synonym: malignant intestinal tumors
has_exact_synonym: malignant neoplasm of intestine
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

osteonecrosis
type: Class
subclass of: ischemic bone disease
database_cross_reference: ICD9CM:733.44
database_cross_reference: ICD9CM:733.43
database_cross_reference: UMLS_CUI:C0158442
database_cross_reference: SNOMEDCT_US_2020_03_01:240196003
definition: An ischemic bone disease that results_in necrosis located_in bone.
database_cross_reference: ICD9CM:733.42
database_cross_reference: NCI:C35226
database_cross_reference: ICD9CM:733.41
database_cross_reference: ICD9CM:732.3
database_cross_reference: UMLS_CUI:C0158449
has_alternative_id: DOID:4128
has_exact_synonym: Avascular necrosis of bone
database_cross_reference: SNOMEDCT_US_2020_03_01:17926002
database_cross_reference: UMLS_CUI:C0745048
database_cross_reference: SNOMEDCT_US_2020_03_01:62100001
database_cross_reference: MESH:D010020
database_cross_reference: NCI:C35517
database_cross_reference: ICD10CM:M87
id: DOID:10159
database_cross_reference: SNOMEDCT_US_2020_03_01:83453001
database_cross_reference: NCI:C34841
database_cross_reference: UMLS_CUI:C0158450
database_cross_reference: UMLS_CUI:C0029445
database_cross_reference: NCI:C34404
database_cross_reference: UMLS_CUI:C0158451
database_cross_reference: UMLS_CUI:C0027543
has_alternative_id: DOID:10164
has_alternative_id: DOID:10163
has_obo_namespace: disease_ontology
has_alternative_id: DOID:10162
has_alternative_id: DOID:86
has_alternative_id: DOID:10161
database_cross_reference: UMLS_CUI:C0003977
has_alternative_id: DOID:10160
database_cross_reference: NCI:C34880
database_cross_reference: SNOMEDCT_US_2020_03_01:43453000
database_cross_reference: ICD10CM:M87.9
database_cross_reference: SNOMEDCT_US_2020_03_01:156837008
has_alternative_id: DOID:8380
database_cross_reference: SNOMEDCT_US_2020_03_01:29281007
has_exact_synonym: aseptic necrosis
has_exact_synonym: bone necrosis
in_subset: NCIthesaurus
imported from: doid.owl

skin lipoma
type: Class
subclass of: skin benign neoplasm
subclass of: lipoma
database_cross_reference: NCI:C4616
has_alternative_id: DOID:3943
has_alternative_id: DOID:10198
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:214.0
definition: A skin benign neoplasm that derives_from fat cells.
database_cross_reference: UMLS_CUI:C0153968
database_cross_reference: UMLS_CUI:C1333174
database_cross_reference: NCI:C5566
database_cross_reference: SNOMEDCT_US_2020_03_01:255187008
id: DOID:10188
has_exact_synonym: Cutaneous Lipoma
has_exact_synonym: Lipoma of skin
database_cross_reference: SNOMEDCT_US_2020_03_01:93159009
database_cross_reference: UMLS_CUI:C0347394
has_exact_synonym: cutaneous lipomatous tumor
has_exact_synonym: lipoma of face
in_subset: NCIthesaurus
imported from: doid.owl

osteomyelitis
type: Class
subclass of: disease by infectious agent
subclass of: bone inflammation disease
has_alternative_id: DOID:2249
has_alternative_id: DOID:10692
id: DOID:1019
has_alternative_id: DOID:13684
has_alternative_id: DOID:1018
has_alternative_id: DOID:12011
has_alternative_id: DOID:11788
has_alternative_id: DOID:9456
has_alternative_id: DOID:11959
database_cross_reference: UMLS_CUI:C0008707
database_cross_reference: SNOMEDCT_US_2020_03_01:203181001
has_alternative_id: DOID:5858
has_alternative_id: DOID:14003
has_obo_namespace: disease_ontology
has_alternative_id: DOID:13673
has_alternative_id: DOID:14100
has_alternative_id: DOID:14166
has_alternative_id: DOID:10282
has_alternative_id: DOID:10860
has_alternative_id: DOID:13674
has_alternative_id: DOID:13675
has_alternative_id: DOID:13678
has_alternative_id: DOID:13737
has_alternative_id: DOID:2250
has_alternative_id: DOID:1020
has_alternative_id: DOID:1164
definition: A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.
database_cross_reference: ICD9CM:730.1
has_alternative_id: DOID:10281
database_cross_reference: GARD:7286
imported from: doid.owl

breast lipoma
type: Class
subclass of: breast benign neoplasm
subclass of: lipoma
id: DOID:10199
has_exact_synonym: Lipoma of breast
database_cross_reference: SNOMEDCT_US_2020_03_01:276891009
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4647
definition: A breast benign neoplasm that is composed of lipocytes.
database_cross_reference: UMLS_CUI:C0349565
in_subset: NCIthesaurus
imported from: doid.owl

cholelithiasis
type: Class
subclass of: gallbladder disease
id: DOID:10211
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0004799
database_cross_reference: ICD9CM:574.5
database_cross_reference: SNOMEDCT_US_2020_03_01:197397004
database_cross_reference: UMLS_CUI:C0006739
imported from: doid.owl

dermatomyositis
type: Class
subclass of: skin disease
subclass of: myositis
definition: A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
database_cross_reference: ICD10CM:M33
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:710.3
database_cross_reference: GARD:6263
comment: MESH:C538250 added from NeuroDevNet [WAK].
database_cross_reference: MESH:D003882
database_cross_reference: SNOMEDCT_US_2020_03_01:38826005
database_cross_reference: UMLS_CUI:C0011633
id: DOID:10223
has_related_synonym: Amyopathic dermatomyositis
database_cross_reference: NCI:C26744
has_exact_synonym: Polymyositis with skin involvement
has_exact_synonym: dermatopolymyositis
in_subset: NCIthesaurus
imported from: doid.owl

aortic atherosclerosis
type: Class
subclass of: atherosclerosis
database_cross_reference: SNOMEDCT_US_2020_03_01:81817003
database_cross_reference: UMLS_CUI:C0155733
database_cross_reference: ICD10CM:I70.0
id: DOID:10230
database_cross_reference: ICD9CM:440.0
has_exact_synonym: Aortic atherosclerosis
has_exact_synonym: Atherosclerosis of aorta
has_obo_namespace: disease_ontology
imported from: doid.owl

exhibitionism
type: Class
subclass of: paraphilia disorder
database_cross_reference: ICD9CM:302.4
database_cross_reference: MESH:D005084
database_cross_reference: NCI:C94352
database_cross_reference: SNOMEDCT_US_2020_03_01:192514003
id: DOID:10236
database_cross_reference: ICD10CM:F65.2
database_cross_reference: UMLS_CUI:C0015269
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

leprosy
type: Class
subclass of: primary bacterial infectious disease
subclass of: testicular disease
subclass of: eye disease
subclass of: peripheral nervous system disease
subclass of: upper respiratory tract disease
database_cross_reference: NCI:C84824
database_cross_reference: OMIM:609888
database_cross_reference: UMLS_CUI:C0023343
database_cross_reference: OMIM:613407
database_cross_reference: GARD:6886
id: DOID:1024
database_cross_reference: EFO:0001054
database_cross_reference: ICD10CM:A30
database_cross_reference: OMIM:607572
database_cross_reference: MESH:D007918
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:030
database_cross_reference: ORDO:548
comment: Xref MGI.
definition: A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
database_cross_reference: SNOMEDCT_US_2020_03_01:154298007
in_subset: DO rare slim
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

thalassemia
type: Class
subclass of: autosomal recessive disease
subclass of: hemolytic anemia
database_cross_reference: MESH:D013789
definition: A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.
has_alternative_id: DOID:12243
database_cross_reference: ICD9CM:282.4
database_cross_reference: NCI:C35069
has_alternative_id: DOID:12242
database_cross_reference: GARD:7756
id: DOID:10241
database_cross_reference: UMLS_CUI:C0039730
database_cross_reference: ICD10CM:D56
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: SNOMEDCT_US_2020_03_01:191192008
has_exact_synonym: Sickle-cell thalassemia with crisis
has_exact_synonym: Sickle-cell thalassemia without crisis
has_exact_synonym: thalassemia Hb-S disease with crisis
has_exact_synonym: thalassemia Hb-S disease without crisis
in_subset: NCIthesaurus
imported from: doid.owl

ehrlichiosis
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.
has_alternative_id: DOID:0050023
database_cross_reference: SNOMEDCT_US_2020_03_01:77361002
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A77.4
database_cross_reference: ICD9CM:082.4
id: DOID:10242
database_cross_reference: UMLS_CUI:C0085399
database_cross_reference: MESH:D016873
database_cross_reference: GARD:2092
has_exact_synonym: human ehrlichiosis
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
imported from: doid.owl

pleurisy
type: Class
subclass of: pleural disease
id: DOID:10247
database_cross_reference: ICD9CM:511.8
database_cross_reference: UMLS_CUI:C0029799
has_obo_namespace: disease_ontology
definition: A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
imported from: doid.owl

louping ill
type: Class
subclass of: viral infectious disease
id: DOID:10250
definition: A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A84.8
database_cross_reference: ICD9CM:063.1
has_exact_synonym: Louping ill
database_cross_reference: SNOMEDCT_US_2020_03_01:59350003
database_cross_reference: UMLS_CUI:C0024025
database_cross_reference: MESH:D008146
in_subset: tick-borne infectious disease
imported from: doid.owl

mumps
type: Class
subclass of: salivary gland disease
subclass of: herpangina
database_cross_reference: ICD9CM:072
database_cross_reference: GARD:7116
database_cross_reference: SNOMEDCT_US_2020_03_01:154352008
definition: A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
database_cross_reference: MESH:D009107
database_cross_reference: UMLS_CUI:C0026780
database_cross_reference: NCI:C29888
has_obo_namespace: disease_ontology
id: DOID:10264
database_cross_reference: ICD10CM:B26
in_subset: NCIthesaurus
imported from: doid.owl

heart conduction disease
type: Class
subclass of: heart disease
has_obo_namespace: disease_ontology
id: DOID:10273
database_cross_reference: SNOMEDCT_US_2020_03_01:195053008
database_cross_reference: ICD9CM:426.6
database_cross_reference: UMLS_CUI:C0029630
definition: A cardiovascular system disease that involves the heart's electrical conduction system.
has_exact_synonym: heart rhythm disease
imported from: doid.owl

prostate cancer
type: Class
subclass of: male reproductive organ cancer
subclass of: prostate disease
database_cross_reference: OMIM:300147
id: DOID:10283
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:300704
database_cross_reference: OMIM:601518
database_cross_reference: NCI:C7378
database_cross_reference: OMIM:611955
database_cross_reference: OMIM:611958
database_cross_reference: SNOMEDCT_US_2020_03_01:93974005
database_cross_reference: OMIM:611959
database_cross_reference: MESH:D011471
has_alternative_id: DOID:514
database_cross_reference: OMIM:609558
database_cross_reference: KEGG:05215
database_cross_reference: ORDO:1331
database_cross_reference: OMIM:608658
database_cross_reference: ICD10CM:C61
database_cross_reference: OMIM:602759
database_cross_reference: OMIM:611868
database_cross_reference: OMIM:611100
database_cross_reference: OMIM:608656
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:610321
database_cross_reference: OMIM:609299
database_cross_reference: UMLS_CUI:C0033578
database_cross_reference: NCI:C3343
database_cross_reference: UMLS_CUI:C0376358
definition: A male reproductive organ cancer that is located_in the prostate.
database_cross_reference: OMIM:611928
database_cross_reference: ICD9CM:185
has_exact_synonym: NGP - new growth of prostate
database_cross_reference: OMIM:610997
database_cross_reference: OMIM:176807
database_cross_reference: SNOMEDCT_US_2020_03_01:126906006
has_exact_synonym: hereditary prostate cancer
has_exact_synonym: malignant tumor of the prostate
has_exact_synonym: prostate cancer, familial
has_exact_synonym: prostate neoplasm
has_exact_synonym: prostatic cancer
has_exact_synonym: prostatic neoplasm
has_exact_synonym: tumor of the prostate
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

familial periodic paralysis
type: Class
subclass of: metal metabolism disorder
database_cross_reference: UMLS_CUI:C0030443
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84709
database_cross_reference: GARD:6422
id: DOID:1029
database_cross_reference: ICD10CM:G72.3
database_cross_reference: MESH:D010245
database_cross_reference: SNOMEDCT_US_2020_03_01:193241004
in_subset: NCIthesaurus
imported from: doid.owl

Raynaud disease
type: Class
subclass of: peripheral vascular disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:I73.0
database_cross_reference: MESH:D011928
database_cross_reference: OMIM:179600
database_cross_reference: UMLS_CUI:C0034734
id: DOID:10300
has_exact_synonym: Raynaud's disease
has_exact_synonym: Raynaud's syndrome
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:195295006
imported from: doid.owl

parotitis
type: Class
subclass of: parotid disease
database_cross_reference: NCI:C114281
database_cross_reference: SNOMEDCT_US_2020_03_01:196481002
has_obo_namespace: disease_ontology
definition: A parotid disease characterized by the inflammation of one or both parotid glands.
database_cross_reference: ICD10CM:K11.2
database_cross_reference: MESH:D010309
id: DOID:10301
database_cross_reference: UMLS_CUI:C0030583
in_subset: NCIthesaurus
imported from: doid.owl

parotid disease
type: Class
subclass of: salivary gland disease
id: DOID:10302
database_cross_reference: MESH:D010305
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0030579
imported from: doid.owl

sialadenitis
type: Class
subclass of: salivary gland disease
subclass of: lymphadenitis
id: DOID:10303
database_cross_reference: SNOMEDCT_US_2020_03_01:42982001
database_cross_reference: NCI:C26882
database_cross_reference: ICD9CM:527.2
database_cross_reference: MESH:D012793
database_cross_reference: GARD:7638
has_exact_synonym: Sialoadenitis
database_cross_reference: UMLS_CUI:C0037023
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K11.2
in_subset: NCIthesaurus
imported from: doid.owl

endocarditis
type: Class
subclass of: endocardium disease
database_cross_reference: NCI:C35432
id: DOID:10314
has_alternative_id: DOID:14058
database_cross_reference: SNOMEDCT_US_2020_03_01:91357005
database_cross_reference: ICD9CM:421.9
database_cross_reference: SNOMEDCT_US_2020_03_01:56819008
database_cross_reference: UMLS_CUI:C0014118
database_cross_reference: ICD10CM:I33.9
definition: A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
database_cross_reference: NCI:C34582
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0375268
database_cross_reference: MESH:D004696
in_subset: NCIthesaurus
imported from: doid.owl

pneumoconiosis
type: Class
subclass of: interstitial lung disease
database_cross_reference: NCI:C26861
database_cross_reference: ICD9CM:505
database_cross_reference: MESH:D011009
id: DOID:10316
database_cross_reference: SNOMEDCT_US_2020_03_01:196004000
definition: An interstitial lung disease that is caused by the inhalation of dust.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:J64
database_cross_reference: UMLS_CUI:C0032273
in_subset: NCIthesaurus
imported from: doid.owl

asbestosis
type: Class
subclass of: pneumoconiosis
has_obo_namespace: disease_ontology
id: DOID:10320
database_cross_reference: GARD:5852
database_cross_reference: ICD10CM:J61
database_cross_reference: ICD9CM:501
database_cross_reference: NCI:C84573
database_cross_reference: UMLS_CUI:C0003949
database_cross_reference: MESH:D001195
definition: A pneumoconiosis caused by inhalation and retention of asbestos fibers.
database_cross_reference: SNOMEDCT_US_2020_03_01:266400008
in_subset: NCIthesaurus
imported from: doid.owl

byssinosis
type: Class
subclass of: pneumoconiosis
database_cross_reference: NCI:C84605
has_obo_namespace: disease_ontology
has_exact_synonym: Flax-dressers' disease
database_cross_reference: UMLS_CUI:C0006542
database_cross_reference: MESH:D002095
database_cross_reference: ICD10CM:J66.0
database_cross_reference: SNOMEDCT_US_2020_03_01:155589004
database_cross_reference: GARD:5976
id: DOID:10323
has_exact_synonym: Stripper's asthma
has_exact_synonym: cotton mill fever
in_subset: NCIthesaurus
imported from: doid.owl

silicosis
type: Class
subclass of: pneumoconiosis
has_alternative_id: DOID:14007
definition: A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.
id: DOID:10325
database_cross_reference: UMLS_CUI:C0037116
database_cross_reference: ICD10CM:J62.8
database_cross_reference: GARD:7647
database_cross_reference: SNOMEDCT_US_2020_03_01:155590008
database_cross_reference: NCI:C3369
database_cross_reference: ICD9CM:502
has_exact_synonym: Pneumoconiosis due to silicates
has_exact_synonym: Silica pneumoconiosis
has_exact_synonym: Silicotic fibrosis of lung
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D012829
has_exact_synonym: silicotuberculosis
in_subset: NCIthesaurus
imported from: doid.owl

anthracosis
type: Class
subclass of: pneumoconiosis
has_exact_synonym: Coal workers' lung
database_cross_reference: ICD9CM:500
database_cross_reference: ICD10CM:J60
has_exact_synonym: Melanoedema
database_cross_reference: NCI:C34390
has_exact_synonym: Coal Miner's Pneumoconiosis
has_exact_synonym: Coal workers' pneumoconiosis
database_cross_reference: MESH:D055008
database_cross_reference: SNOMEDCT_US_2020_03_01:29422001
database_cross_reference: UMLS_CUI:C0003165
id: DOID:10327
has_exact_synonym: black lung
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

siderosis
type: Class
subclass of: pneumoconiosis
database_cross_reference: ICD10CM:J63.4
database_cross_reference: GARD:7645
database_cross_reference: UMLS_CUI:C0037061
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D012806
database_cross_reference: SNOMEDCT_US_2020_03_01:155591007
id: DOID:10328
has_exact_synonym: pulmonary siderosis
imported from: doid.owl

blepharophimosis
type: Class
subclass of: eyelid disease
database_cross_reference: MESH:D016569
database_cross_reference: ICD9CM:374.46
id: DOID:10348
database_cross_reference: UMLS_CUI:C0005744
database_cross_reference: ICD10CM:H02.52
has_obo_namespace: disease_ontology
database_cross_reference: GARD:5932
imported from: doid.owl

breast cyst
type: Class
subclass of: breast benign neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:56726003
has_exact_synonym: Cyst of the breast
database_cross_reference: UMLS_CUI:C0006144
database_cross_reference: NCI:C5315
has_obo_namespace: disease_ontology
id: DOID:10350
database_cross_reference: ICD10CM:N60.0
database_cross_reference: MESH:D047688
definition: A breast benign neoplasm that is characterized by a fluid-filled sac.
in_subset: NCIthesaurus
imported from: doid.owl

lymphoid leukemia
type: Class
subclass of: leukemia
has_alternative_id: DOID:10747
database_cross_reference: MESH:D007945
database_cross_reference: ICD9CM:204
has_exact_synonym: lymphoid leukemia
database_cross_reference: UMLS_CUI:C0023448
database_cross_reference: ICD10CM:C91
definition: A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.
database_cross_reference: SNOMEDCT_US_2020_03_01:93170002
id: DOID:1037
database_cross_reference: NCI:C7539
has_obo_namespace: disease_ontology
has_exact_synonym: lymphoblastic leukaemia
has_exact_synonym: lymphoblastic leukemia
has_exact_synonym: lymphocytic leukaemia
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

yaws
type: Class
subclass of: primary bacterial infectious disease
subclass of: bone disease
subclass of: skin disease
has_exact_synonym: Bouba
database_cross_reference: SNOMEDCT_US_2020_03_01:266213004
database_cross_reference: NCI:C41353
database_cross_reference: GARD:7913
id: DOID:10371
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A66
definition: A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions.
database_cross_reference: MESH:D015001
database_cross_reference: ICD9CM:102
database_cross_reference: UMLS_CUI:C0043388
has_exact_synonym: frambesia
has_exact_synonym: frambesia tropica
has_exact_synonym: frambosie
has_exact_synonym: polypapilloma tropicum
has_exact_synonym: thymosis
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

suppression amblyopia
type: Class
subclass of: amblyopia
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:368.01
id: DOID:10375
database_cross_reference: UMLS_CUI:C0750903
database_cross_reference: ICD10CM:H53.03
database_cross_reference: SNOMEDCT_US_2020_03_01:35600002
database_cross_reference: MESH:D000550
has_exact_synonym: Strabismic amblyopia
imported from: doid.owl

amblyopia
type: Class
subclass of: eye disease
database_cross_reference: NCI:C118764
id: DOID:10376
database_cross_reference: ICD10CM:H53.00
database_cross_reference: ICD9CM:368.00
database_cross_reference: SNOMEDCT_US_2020_03_01:155145007
database_cross_reference: UMLS_CUI:C0002418
definition: An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye.
database_cross_reference: MESH:D000550
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

disuse amblyopia
type: Class
subclass of: amblyopia
database_cross_reference: ICD9CM:368.02
database_cross_reference: ICD10CM:H53.01
database_cross_reference: UMLS_CUI:C0152189
database_cross_reference: SNOMEDCT_US_2020_03_01:193638002
id: DOID:10378
has_exact_synonym: Deprivation amblyopia
has_obo_namespace: disease_ontology
imported from: doid.owl

prolymphocytic leukemia
type: Class
subclass of: chronic lymphocytic leukemia
database_cross_reference: SNOMEDCT_US_2020_03_01:110006004
database_cross_reference: MESH:D015463
database_cross_reference: NCI:C3181
database_cross_reference: UMLS_CUI:C0023486
id: DOID:1039
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

secondary hypertrophic osteoarthropathy
type: Class
subclass of: arthropathy
has_exact_synonym: Bamberger-Marie disease
has_exact_synonym: HPOA - hypertrophic pulmonary osteoarthropathy
database_cross_reference: MESH:D010005
database_cross_reference: UMLS_CUI:C0029412
database_cross_reference: ICD10CM:M89.4
database_cross_reference: SNOMEDCT_US_2020_03_01:46922002
id: DOID:10393
database_cross_reference: ICD9CM:731.2
has_exact_synonym: Marie Bamberger disease
has_obo_namespace: disease_ontology
has_exact_synonym: hypertrophic pulmonary osteoarthropathy
imported from: doid.owl

pneumonic plague
type: Class
subclass of: plague
subclass of: lung disease
has_alternative_id: DOID:10402
has_alternative_id: DOID:10401
database_cross_reference: SNOMEDCT_US_2020_03_01:67525007
database_cross_reference: UMLS_CUI:C0524688
database_cross_reference: UMLS_CUI:C0152938
database_cross_reference: ICD10CM:A20.2
database_cross_reference: UMLS_CUI:C0152937
has_obo_namespace: disease_ontology
definition: A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing.
id: DOID:10398
database_cross_reference: MESH:D010930
database_cross_reference: SNOMEDCT_US_2020_03_01:35339003
database_cross_reference: ICD9CM:020.3
database_cross_reference: ICD9CM:020.4
database_cross_reference: ICD9CM:020.5
database_cross_reference: SNOMEDCT_US_2020_03_01:38976008
has_exact_synonym: primary pneumonic plague
has_exact_synonym: secondary pneumonic plague
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

bacterial infectious disease
type: Class
subclass of: disease by infectious agent
database_cross_reference: NCI:C2890
database_cross_reference: MESH:D001424
definition: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A49.9
database_cross_reference: SNOMEDCT_US_2020_03_01:87628006
id: DOID:104
database_cross_reference: UMLS_CUI:C0004623
in_subset: DO AGR slim
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

chronic lymphocytic leukemia
type: Class
subclass of: lymphoma
subclass of: lymphoid leukemia
database_cross_reference: OMIM:109543
id: DOID:1040
database_cross_reference: ORDO:67038
comment: Xref MGI.
database_cross_reference: UMLS_CUI:C0023434
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015451
database_cross_reference: GARD:6104
definition: A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
has_exact_synonym: B-cell chronic lymphocytic leukaemia
database_cross_reference: EFO:0000095
database_cross_reference: OMIM:609630
database_cross_reference: SNOMEDCT_US_2020_03_01:51092000
database_cross_reference: ICD9CM:204.1
database_cross_reference: NCI:C3163
database_cross_reference: OMIM:151400
database_cross_reference: OMIM:612559
has_exact_synonym: B-cell chronic lymphocytic leukemia
has_related_synonym: B-cell chronic lymphoid leukemia
has_exact_synonym: CLL
database_cross_reference: ICD10CM:C91.10
database_cross_reference: OMIM:612557
database_cross_reference: OMIM:612558
has_exact_synonym: chronic lymphatic leukaemia
has_exact_synonym: chronic lymphatic leukemia
has_exact_synonym: chronic lymphocytic leukaemia
has_exact_synonym: lymphoplasmacytic leukaemia
has_exact_synonym: lymphoplasmacytic leukemia
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Klippel-Feil syndrome
type: Class
subclass of: spinal disease
subclass of: physical disorder
subclass of: syndrome
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS118100
has_alternative_id: DOID:14747
database_cross_reference: ICD9CM:756.16
id: DOID:10426
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:2345
database_cross_reference: MESH:D007714
definition: A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
database_cross_reference: NCI:C98967
database_cross_reference: ICD10CM:Q76.1
database_cross_reference: GARD:10280
has_exact_synonym: Klippel-Feil and Turner syndrome
has_exact_synonym: Klippel-Feil deformity, deafness and facial asymmetry
database_cross_reference: UMLS_CUI:C0022738
database_cross_reference: SNOMEDCT_US_2020_03_01:268349005
has_exact_synonym: autosomal dominant Klippel-Feil syndrome
has_exact_synonym: congenital dystrophia brevicollis
has_exact_synonym: congenital synostosis of cervical vertebrae
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Mooren's ulcer
type: Class
subclass of: corneal ulcer
database_cross_reference: ICD10CM:H16.05
id: DOID:10439
database_cross_reference: SNOMEDCT_US_2020_03_01:22440001
definition: A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema.
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:370.07
database_cross_reference: UMLS_CUI:C0155072
has_exact_synonym: Mooren ulcer
imported from: doid.owl

tonsillitis
type: Class
subclass of: upper respiratory tract disease
database_cross_reference: ICD9CM:474.00
database_cross_reference: NCI:C116006
database_cross_reference: SNOMEDCT_US_2020_03_01:195794009
database_cross_reference: ICD10CM:J35.01
definition: An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills.
database_cross_reference: SNOMEDCT_US_2020_03_01:195665006
has_obo_namespace: disease_ontology
has_alternative_id: DOID:13751
database_cross_reference: UMLS_CUI:C0149517
id: DOID:10456
database_cross_reference: UMLS_CUI:C0040425
has_alternative_id: DOID:10454
database_cross_reference: MESH:D014069
has_exact_synonym: Throat infection - tonsillitis
has_exact_synonym: chronic tonsillitis
in_subset: NCIthesaurus
imported from: doid.owl

Legionnaires' disease
type: Class
subclass of: legionellosis
database_cross_reference: ICD9CM:482.84
has_exact_synonym: Legionella
has_exact_synonym: Legionnaire's disease
database_cross_reference: NCI:C128339
definition: A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
database_cross_reference: SNOMEDCT_US_2020_03_01:195889001
database_cross_reference: ICD10CM:A48.1
has_obo_namespace: disease_ontology
has_exact_synonym: Infection by Legionella pneumophilia
database_cross_reference: MESH:D007877
has_exact_synonym: Legionella pneumonia
database_cross_reference: UMLS_CUI:C0023241
id: DOID:10457
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

legionellosis
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: MESH:D007876
has_exact_synonym: Legionella infection
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C128334
database_cross_reference: SNOMEDCT_US_2020_03_01:26726000
database_cross_reference: UMLS_CUI:C0023240
definition: A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea.
id: DOID:10458
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

common cold
type: Class
subclass of: upper respiratory tract disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:J00
database_cross_reference: SNOMEDCT_US_2020_03_01:195648002
id: DOID:10459
database_cross_reference: UMLS_CUI:C0009443
has_exact_synonym: Acute viral rhinopharyngitis
definition: An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
database_cross_reference: ICD9CM:460
database_cross_reference: NCI:C34500
database_cross_reference: MESH:D003139
has_exact_synonym: Nasopharyngitis - acute
has_exact_synonym: Nasopharyngitis, acute
has_exact_synonym: acute Nasopharyngitis
has_exact_synonym: acute coryza
has_exact_synonym: acute nasopharyngitis
has_exact_synonym: acute rhinitis
has_exact_synonym: rhino-sinusitis
in_subset: NCIthesaurus
imported from: doid.owl

nasopharyngitis
type: Class
subclass of: nasopharyngeal disease
database_cross_reference: MESH:D009304
database_cross_reference: UMLS_CUI:C0155826
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:J31.1
database_cross_reference: NCI:C34837
has_alternative_id: DOID:11587
id: DOID:10460
database_cross_reference: SNOMEDCT_US_2020_03_01:51476001
database_cross_reference: ICD10CM:J00
database_cross_reference: ICD9CM:472.2
database_cross_reference: SNOMEDCT_US_2020_03_01:155524006
database_cross_reference: UMLS_CUI:C0027441
definition: A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
has_exact_synonym: chronic nasopharyngitis
in_subset: NCIthesaurus
imported from: doid.owl

dentin caries
type: Class
subclass of: dental caries
database_cross_reference: ICD10CM:K02
id: DOID:10461
has_exact_synonym: Compound dental caries
has_exact_synonym: Dentin caries
database_cross_reference: SNOMEDCT_US_2020_03_01:442551007
database_cross_reference: UMLS_CUI:C0266846
database_cross_reference: ICD9CM:521.02
has_exact_synonym: Dental caries extending into dentine
has_obo_namespace: disease_ontology
imported from: doid.owl

patellar tendinitis
type: Class
subclass of: tendinitis
database_cross_reference: ICD10CM:M76.5
database_cross_reference: ICD9CM:726.64
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:156662006
id: DOID:10471
has_exact_synonym: Patellar tendonitis
database_cross_reference: UMLS_CUI:C0158317
imported from: doid.owl

diaphragmatic eventration
type: Class
subclass of: diaphragm disease
database_cross_reference: NCI:C98912
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D003965
id: DOID:10480
database_cross_reference: UMLS_CUI:C0011981
database_cross_reference: SNOMEDCT_US_2020_03_01:34168003
database_cross_reference: ICD10CM:Q79.1
in_subset: NCIthesaurus
imported from: doid.owl

diaphragm disease
type: Class
subclass of: muscular disease
definition: A muscular disease that is located_in the diaphragm.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:J98.6
database_cross_reference: ICD9CM:519.4
database_cross_reference: UMLS_CUI:C0152097
database_cross_reference: SNOMEDCT_US_2020_03_01:48475001
id: DOID:10481
imported from: doid.owl

esophageal atresia
type: Class
subclass of: esophageal disease
has_exact_synonym: Congenital atresia of esophagus
database_cross_reference: NCI:C87072
has_exact_synonym: Congenital imperforate esophagus
database_cross_reference: GARD:6381
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0014850
database_cross_reference: MESH:D004933
id: DOID:10485
database_cross_reference: ICD10CM:Q39.0
has_exact_synonym: Imperforate esophagus
has_exact_synonym: Oesophageal atresia
database_cross_reference: SNOMEDCT_US_2020_03_01:156947007
in_subset: NCIthesaurus
imported from: doid.owl

intestinal atresia
type: Class
subclass of: intestinal disease
id: DOID:10486
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84790
database_cross_reference: MESH:D007409
database_cross_reference: ICD10CM:Q41.1
database_cross_reference: UMLS_CUI:C0021828
in_subset: NCIthesaurus
imported from: doid.owl

Hirschsprung's disease
type: Class
subclass of: megacolon
database_cross_reference: MESH:D006627
database_cross_reference: UMLS_CUI:C0019569
database_cross_reference: SNOMEDCT_US_2020_03_01:204739008
id: DOID:10487
database_cross_reference: ICD10CM:Q43.1
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
has_exact_synonym: Hirschsprung disease
database_cross_reference: OMIM:606875
database_cross_reference: OMIM:606874
database_cross_reference: OMIM:611644
database_cross_reference: OMIM:608462
database_cross_reference: NCI:C34700
database_cross_reference: ORDO:388
database_cross_reference: GARD:6660
database_cross_reference: OMIM:600156
has_exact_synonym: aganglionic megacolon
has_exact_synonym: congenital megacolon
has_obo_namespace: disease_ontology
has_exact_synonym: macrocolon
has_exact_synonym: pelvirectal achalasia
has_exact_synonym: total intestinal aganglionosis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

imperforate anus
type: Class
subclass of: physical disorder
subclass of: anus disease
database_cross_reference: OMIM:207500
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:301800
id: DOID:10488
has_exact_synonym: Congenital atresia of anus
has_exact_synonym: Congenital or infantile occlusion of anus
database_cross_reference: UMLS_CUI:C0003466
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84784
database_cross_reference: ICD10CM:Q42.3
database_cross_reference: GARD:6769
database_cross_reference: MESH:D001006
database_cross_reference: SNOMEDCT_US_2020_03_01:156956004
has_exact_synonym: Imperforate anus
has_exact_synonym: anal atresia
in_subset: NCIthesaurus
imported from: doid.owl

adrenal cortical hypofunction
type: Class
subclass of: adrenal cortex disease
has_exact_synonym: Corticoadrenal insufficiency
database_cross_reference: UMLS_CUI:C0405580
database_cross_reference: NCI:C26691
id: DOID:10493
database_cross_reference: ICD9CM:255.4
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:68588005
has_exact_synonym: Adrenal Cortical Insufficiency
in_subset: NCIthesaurus
imported from: doid.owl

viral pneumonia
type: Class
subclass of: pneumonia
subclass of: viral infectious disease
database_cross_reference: ICD9CM:480
database_cross_reference: SNOMEDCT_US_2020_03_01:195880002
database_cross_reference: MESH:D011024
id: DOID:10533
definition: A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.
database_cross_reference: UMLS_CUI:C0032310
has_alternative_id: DOID:13167
database_cross_reference: ICD10CM:J12.9
has_obo_namespace: disease_ontology
imported from: doid.owl

stomach cancer
type: Class
subclass of: gastrointestinal system cancer
subclass of: stomach disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013274
has_alternative_id: DOID:4713
has_alternative_id: DOID:10542
has_alternative_id: DOID:10543
database_cross_reference: NCI:C9331
database_cross_reference: UMLS_CUI:C0153423
database_cross_reference: UMLS_CUI:C0153422
database_cross_reference: UMLS_CUI:C0153421
database_cross_reference: OMIM:613659
database_cross_reference: NCI:C3387
database_cross_reference: ICD9CM:151
database_cross_reference: SNOMEDCT_US_2020_03_01:94074003
database_cross_reference: ICD10CM:C16.5
database_cross_reference: ICD10CM:C16.6
database_cross_reference: SNOMEDCT_US_2020_03_01:269460009
database_cross_reference: ICD10CM:C16.2
database_cross_reference: GARD:7704
id: DOID:10534
database_cross_reference: ICD9CM:151.5
database_cross_reference: SNOMEDCT_US_2020_03_01:269459004
has_alternative_id: DOID:10539
database_cross_reference: ICD9CM:151.4
database_cross_reference: ICD9CM:151.6
database_cross_reference: SNOMEDCT_US_2020_03_01:126824007
comment: OMIM mapping confirmed by DO. [SN].
definition: A gastrointestinal system cancer that is located_in the stomach.
database_cross_reference: UMLS_CUI:C0024623
database_cross_reference: UMLS_CUI:C0038356
database_cross_reference: ICD10CM:C16
database_cross_reference: SNOMEDCT_US_2020_03_01:93717002
has_exact_synonym: gastric cancer
has_exact_synonym: gastric neoplasm
in_subset: DO FlyBase slim
in_subset: DO cancer slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

gastric lymphoma
type: Class
subclass of: lymphoma
subclass of: stomach cancer
database_cross_reference: NCI:C4636
id: DOID:10540
has_exact_synonym: Lymphoma of the stomach
database_cross_reference: UMLS_CUI:C0349532
database_cross_reference: SNOMEDCT_US_2020_03_01:276811008
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6485
in_subset: NCIthesaurus
imported from: doid.owl

cardia cancer
type: Class
subclass of: stomach cancer
database_cross_reference: UMLS_CUI:C0153417
database_cross_reference: ICD10CM:C16.0
database_cross_reference: SNOMEDCT_US_2020_03_01:93738008
database_cross_reference: ICD9CM:151.0
has_obo_namespace: disease_ontology
id: DOID:10548
has_exact_synonym: Ca cardia - stomach
has_exact_synonym: malignant neoplasm of cardia of stomach
imported from: doid.owl

meningoencephalitis
type: Class
subclass of: central nervous system disease
database_cross_reference: NCI:C34813
database_cross_reference: UMLS_CUI:C0025309
database_cross_reference: MESH:D008590
database_cross_reference: SNOMEDCT_US_2020_03_01:7125002
has_obo_namespace: disease_ontology
definition: A central nervous system disease that involves encephalitis which occurs along with meningitis.
id: DOID:10554
database_cross_reference: ICD10CM:A69.22
has_exact_synonym: Meningoencephalitis
in_subset: NCIthesaurus
imported from: doid.owl

oculocerebrorenal syndrome
type: Class
subclass of: X-linked recessive disease
subclass of: syndrome
database_cross_reference: GARD:3295
database_cross_reference: SNOMEDCT_US_2020_03_01:79385002
database_cross_reference: ORDO:534
database_cross_reference: MEDDRA:10051707
database_cross_reference: NCI:C84940
database_cross_reference: OMIM:309000
id: DOID:1056
database_cross_reference: ICD10CM:E72.03
has_obo_namespace: disease_ontology
definition: A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
has_exact_synonym: Lowe syndrome
database_cross_reference: MESH:D009800
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0028860
has_exact_synonym: lowe oculocerebrorenal syndrome
has_exact_synonym: oculocerebrorenal syndrome of Lowe
in_subset: NCIthesaurus
imported from: doid.owl

osteomalacia
type: Class
subclass of: bone remodeling disease
definition: A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
id: DOID:10573
database_cross_reference: NCI:C26838
database_cross_reference: SNOMEDCT_US_2020_03_01:190639009
database_cross_reference: ICD9CM:268.2
database_cross_reference: UMLS_CUI:C0029442
database_cross_reference: GARD:7285
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

calcium metabolism disease
type: Class
subclass of: mineral metabolism disease
database_cross_reference: ICD10CM:E83.5
database_cross_reference: MESH:D002128
database_cross_reference: SNOMEDCT_US_2020_03_01:267442002
database_cross_reference: ICD9CM:275.4
database_cross_reference: UMLS_CUI:C0006705
has_obo_namespace: disease_ontology
id: DOID:10575
imported from: doid.owl

leukodystrophy
type: Class
subclass of: cerebral degeneration
id: DOID:10579
database_cross_reference: UMLS_CUI:C0023520
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C61253
database_cross_reference: ICD9CM:330.0
database_cross_reference: GARD:6895
database_cross_reference: SNOMEDCT_US_2020_03_01:5101009
definition: A cerebral degeneration characterized by dysfunction of the white matter of the brain.
in_subset: NCIthesaurus
imported from: doid.owl

metachromatic leukodystrophy
type: Class
subclass of: sphingolipidosis
database_cross_reference: NCI:C61251
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:512
database_cross_reference: ICD10CM:E75.25
database_cross_reference: MESH:D007966
database_cross_reference: SNOMEDCT_US_2020_03_01:3621006
database_cross_reference: OMIM:250100
database_cross_reference: OMIM:249900
definition: A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
id: DOID:10581
database_cross_reference: UMLS_CUI:C0023522
has_obo_namespace: disease_ontology
database_cross_reference: GARD:3230
has_exact_synonym: MLD
has_exact_synonym: Scholz cerebral sclerosis
has_exact_synonym: arylsulfatase A deficiency
has_exact_synonym: deficiency of cerebroside-sulfatase
has_exact_synonym: sulfatide lipoidosis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Refsum disease
type: Class
subclass of: lipid metabolism disorder
database_cross_reference: GARD:5691
database_cross_reference: NCI:C85043
database_cross_reference: MESH:D012035
database_cross_reference: ICD10CM:G60.1
id: DOID:10582
has_exact_synonym: HSMN IV
database_cross_reference: SNOMEDCT_US_2020_03_01:25362006
database_cross_reference: OMIM:266510
database_cross_reference: UMLS_CUI:C0034960
database_cross_reference: OMIM:266500
has_exact_synonym: Heredopathia atactica polyneuritiformis
has_exact_synonym: Refsum's disease
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:356.3
has_exact_synonym: HMSN type IV
in_subset: NCIthesaurus
imported from: doid.owl

retinitis pigmentosa
type: Class
subclass of: retinal degeneration
database_cross_reference: UMLS_CUI:C0220701
database_cross_reference: OMIM:PS268000
database_cross_reference: UMLS_CUI:C0035334
database_cross_reference: MESH:C538365
definition: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
database_cross_reference: ORDO:791
database_cross_reference: ICD10CM:H35.52
database_cross_reference: SNOMEDCT_US_2020_03_01:155113002
id: DOID:10584
database_cross_reference: NCI:C85045
database_cross_reference: MESH:D012174
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14742
database_cross_reference: GARD:5694
has_exact_synonym: pericentral pigmentary retinopathy
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Krabbe disease
type: Class
subclass of: sphingolipidosis
database_cross_reference: ICD10CM:E75.23
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C61254
database_cross_reference: GARD:6844
id: DOID:10587
has_exact_synonym: Diffuse globoInOwlid body sclerosis
has_exact_synonym: GLOBOID CELL LEUKOENCEPHALOPATHY
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:245200
has_exact_synonym: Galactosylceramide beta-galactosidase deficiency
has_exact_synonym: Krabbe's disease
has_exact_synonym: Krabbe's leukodystrophy
database_cross_reference: MESH:D007965
database_cross_reference: UMLS_CUI:C0023521
database_cross_reference: SNOMEDCT_US_2020_03_01:192782005
has_exact_synonym: beta galactocerebrosidase deficiency
has_exact_synonym: globoInOwlid cell leukodystrophy
in_subset: NCIthesaurus
imported from: doid.owl

adrenoleukodystrophy
type: Class
subclass of: X-linked recessive disease
subclass of: leukodystrophy
database_cross_reference: OMIM:300100
definition: A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
comment: MESH:D000326w added from NeuroDevNet [WAK].
database_cross_reference: SNOMEDCT_US_2020_03_01:65389002
has_exact_synonym: ALD
has_obo_namespace: disease_ontology
has_exact_synonym: Bronze Schilder disease
id: DOID:10588
database_cross_reference: UMLS_CUI:C0162309
database_cross_reference: ICD10CM:E71.52
has_alternative_id: DOID:13451
has_exact_synonym: Encephalitis periaxialis concentrica
has_exact_synonym: Encephalitis periaxialis, Schilder's
database_cross_reference: NCI:C61252
database_cross_reference: MESH:D000326
has_exact_synonym: Siemerling-Creutzfeldt Disease
has_exact_synonym: X-linked adrenoleukodystrophy
has_exact_synonym: diffuse sclerosis
has_exact_synonym: sudanophilic cerebral sclerosis
in_subset: NCIthesaurus
imported from: doid.owl

intellectual disability
type: Class
subclass of: specific developmental disorder
definition: A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
has_obo_namespace: disease_ontology
comment: OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference: NCI:C84392
database_cross_reference: UMLS_CUI:C0025362
database_cross_reference: SNOMEDCT_US_2020_03_01:1855002
id: DOID:1059
has_exact_synonym: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
has_related_synonym: mental retardation
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

pre-eclampsia
type: Class
subclass of: hypertension
id: DOID:10591
database_cross_reference: OMIM:614592
definition: A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
database_cross_reference: UMLS_CUI:C0032914
database_cross_reference: NCI:C85021
database_cross_reference: OMIM:189800
database_cross_reference: ICD10CM:O14
database_cross_reference: MESH:D011225
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:609404
database_cross_reference: OMIM:609403
has_alternative_id: DOID:12684
database_cross_reference: OMIM:609402
database_cross_reference: ORDO:275555
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:6758009
has_exact_synonym: gestational hypertension
has_exact_synonym: hypertension induced by pregnancy
has_exact_synonym: pre-eclamptic toxaemia
has_exact_synonym: preeclampsia
has_exact_synonym: preeclampsia/eclampsia
has_exact_synonym: pregnancy associated hypertension
has_exact_synonym: pregnancy toxemia
has_exact_synonym: proteinuric hypertension of pregnancy
has_exact_synonym: toxaemia of pregnancy
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Charcot-Marie-Tooth disease
type: Class
subclass of: neuromuscular disease
database_cross_reference: OMIM:PS118220
database_cross_reference: ICD9CM:356.1
database_cross_reference: NCI:C75467
database_cross_reference: SNOMEDCT_US_2020_03_01:193158000
database_cross_reference: UMLS_CUI:C0007959
has_exact_synonym: CMT - Charcot-Marie-Tooth disease
database_cross_reference: MESH:D002607
id: DOID:10595
database_cross_reference: GARD:6034
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G60.0
definition: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Hartnup disease
type: Class
subclass of: amino acid metabolic disorder
database_cross_reference: NCI:C84748
definition: An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
database_cross_reference: GARD:6569
has_exact_synonym: Neutral 1 amino acid transport defect
database_cross_reference: UMLS_CUI:C0018609
database_cross_reference: MESH:D006250
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:1060
database_cross_reference: SNOMEDCT_US_2020_03_01:80902009
database_cross_reference: OMIM:234500
has_exact_synonym: deficiency of tryptophan oxygenase
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E72.02
has_exact_synonym: neutral amino acid transport defect
in_subset: NCIthesaurus
imported from: doid.owl

chronic tic disorder
type: Class
subclass of: tic disorder
database_cross_reference: UMLS_CUI:C0008701
database_cross_reference: SNOMEDCT_US_2020_03_01:192623005
definition: A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.
database_cross_reference: ICD9CM:307.22
database_cross_reference: MESH:D013981
has_exact_synonym: chronic motor or vocal tic disorder
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C116768
database_cross_reference: ICD10CM:F95.1
id: DOID:10600
in_subset: NCIthesaurus
imported from: doid.owl

glucose intolerance
type: Class
subclass of: hyperglycemia
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018149
id: DOID:10603
has_exact_synonym: Glucose: intolerance
has_exact_synonym: Glucose: malabsorption
database_cross_reference: ICD10CM:R73.03
has_exact_synonym: Malabsorption of glucose
database_cross_reference: SNOMEDCT_US_2020_03_01:267426009
database_cross_reference: NCI:C34646
database_cross_reference: UMLS_CUI:C0271650
in_subset: NCIthesaurus
imported from: doid.owl

lactose intolerance
type: Class
subclass of: carbohydrate metabolic disorder
id: DOID:10604
database_cross_reference: UMLS_CUI:C0022951
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E73
database_cross_reference: NCI:C3154
database_cross_reference: MESH:D007787
has_exact_synonym: LM - Lactose malabsorption
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:223100
database_cross_reference: SNOMEDCT_US_2020_03_01:267497007
in_subset: NCIthesaurus
imported from: doid.owl

short bowel syndrome
type: Class
subclass of: intestinal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:204768009
database_cross_reference: MESH:D012778
database_cross_reference: UMLS_CUI:C0036992
has_obo_namespace: disease_ontology
definition: An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.
database_cross_reference: NCI:C99059
id: DOID:10605
has_exact_synonym: acquired short bowel syndrome
has_exact_synonym: short gut syndrome
in_subset: NCIthesaurus
imported from: doid.owl

blind loop syndrome
type: Class
subclass of: intestinal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:77225009
database_cross_reference: ICD10CM:K90.2
database_cross_reference: UMLS_CUI:C0005750
database_cross_reference: NCI:C34431
id: DOID:10606
definition: An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.
has_exact_synonym: Blind loop syndrome
database_cross_reference: MESH:D001765
has_exact_synonym: Bacterial overgrowth syndrome
database_cross_reference: ICD9CM:579.2
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

tropical sprue
type: Class
subclass of: intestinal disease
database_cross_reference: MESH:D013182
database_cross_reference: NCI:C45428
has_obo_namespace: disease_ontology
id: DOID:10607
database_cross_reference: UMLS_CUI:C0038054
database_cross_reference: ICD10CM:K90.1
database_cross_reference: ICD9CM:579.1
database_cross_reference: GARD:7824
database_cross_reference: SNOMEDCT_US_2020_03_01:155846005
has_exact_synonym: Sprue - tropical
has_exact_synonym: Tropical steatorrhea
in_subset: NCIthesaurus
imported from: doid.owl

celiac disease
type: Class
subclass of: autoimmune disease of gastrointestinal tract
database_cross_reference: UMLS_CUI:C0007570
database_cross_reference: OMIM:612007
database_cross_reference: OMIM:612008
database_cross_reference: OMIM:612005
database_cross_reference: OMIM:611598
database_cross_reference: OMIM:612006
id: DOID:10608
database_cross_reference: ORDO:555
database_cross_reference: MESH:D002446
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:579.0
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C26714
database_cross_reference: SNOMEDCT_US_2020_03_01:197477005
database_cross_reference: OMIM:607202
database_cross_reference: GARD:11998
database_cross_reference: OMIM:612011
definition: An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
database_cross_reference: EFO:0001060
database_cross_reference: OMIM:609754
database_cross_reference: ICD10CM:K90.0
database_cross_reference: OMIM:612009
has_exact_synonym: celiac sprue
has_exact_synonym: coeliac disease
has_exact_synonym: idiopathic steatorrhea
in_subset: NCIthesaurus
imported from: doid.owl

rickets
type: Class
subclass of: bone remodeling disease
database_cross_reference: MESH:D012279
database_cross_reference: OMIM:600081
database_cross_reference: ICD10CM:E55.0
comment: Xref MGI.
database_cross_reference: OMIM:277440
database_cross_reference: OMIM:264700
database_cross_reference: UMLS_CUI:C0035579
database_cross_reference: OMIM:600785
database_cross_reference: UMLS_CUI:C0221468
id: DOID:10609
database_cross_reference: ICD9CM:268.0
database_cross_reference: GARD:5700
has_alternative_id: DOID:11672
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:289157
database_cross_reference: SNOMEDCT_US_2020_03_01:68295002
definition: A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.
database_cross_reference: NCI:C26878
database_cross_reference: SNOMEDCT_US_2020_03_01:190639009
has_exact_synonym: active rickets
has_exact_synonym: vitamin D hydroxylation-deficient rickets
has_exact_synonym: vitamin D-dependent rickets
in_subset: NCIthesaurus
imported from: doid.owl

pancreatic steatorrhea
type: Class
subclass of: pancreas disease
database_cross_reference: ICD9CM:579.4
database_cross_reference: ICD10CM:K90.3
database_cross_reference: UMLS_CUI:C0152166
database_cross_reference: SNOMEDCT_US_2020_03_01:155845009
has_obo_namespace: disease_ontology
id: DOID:10610
has_exact_synonym: pancreatic steatorrhoea
imported from: doid.owl

protein-losing enteropathy
type: Class
subclass of: intestinal disease
database_cross_reference: MESH:D011504
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Enteropathy, exudative
database_cross_reference: UMLS_CUI:C0033680
database_cross_reference: SNOMEDCT_US_2020_03_01:66972006
database_cross_reference: OMIM:226300
has_obo_namespace: disease_ontology
id: DOID:10611
has_exact_synonym: Exudative enteropathy
has_exact_synonym: Protein-losing enteropathy
imported from: doid.owl

allergic urticaria
type: Class
subclass of: allergic disease
subclass of: urticaria
database_cross_reference: SNOMEDCT_US_2020_03_01:201260002
database_cross_reference: ICD10CM:L50.0
database_cross_reference: ICD9CM:708.0
definition: An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction.
id: DOID:10612
database_cross_reference: UMLS_CUI:C0149526
has_obo_namespace: disease_ontology
has_exact_synonym: Allergic urticaria
imported from: doid.owl

Fanconi syndrome
type: Class
subclass of: renal tubular transport disease
database_cross_reference: UMLS_CUI:C0341703
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:1062
database_cross_reference: OMIM:PS134600
database_cross_reference: NCI:C3034
has_alternative_id: DOID:5956
database_cross_reference: NCI:C4377
database_cross_reference: SNOMEDCT_US_2020_03_01:236468006
database_cross_reference: GARD:9118
database_cross_reference: MESH:D005198
database_cross_reference: UMLS_CUI:C0015624
definition: A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
has_exact_synonym: Congenital Fanconi syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: De Toni-Fanconi syndrome
has_exact_synonym: Fanconi-de Toni syndrome
has_exact_synonym: Fanconi-de-Toni syndrome
has_exact_synonym: Lignac-Fanconi syndrome
database_cross_reference: ORDO:3337
has_exact_synonym: Infantile nephropathic cystinosis
database_cross_reference: SNOMEDCT_US_2020_03_01:40488004
has_exact_synonym: adult Fanconi Anemia
has_exact_synonym: adult Fanconi syndrome
has_exact_synonym: deToni Fanconi syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

microphthalmia
type: Class
subclass of: eye disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0026010
database_cross_reference: NCI:C98989
database_cross_reference: ICD9CM:743.1
id: DOID:10629
database_cross_reference: MESH:D008850
database_cross_reference: ICD10CM:Q11.2
database_cross_reference: SNOMEDCT_US_2020_03_01:156902006
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_alternative_id: DOID:10650
database_cross_reference: GARD:12085
definition: An eye disease where one or both eyeballs are abnormally small.
has_exact_synonym: microphthalmos
has_exact_synonym: simple microphthalmos
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

interstitial nephritis
type: Class
subclass of: nephritis
id: DOID:1063
database_cross_reference: UMLS_CUI:C0027707
database_cross_reference: MESH:D009395
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:N12
database_cross_reference: NCI:C26834
database_cross_reference: SNOMEDCT_US_2020_03_01:28689008
has_exact_synonym: renal tubulo-interstitial disease
in_subset: NCIthesaurus
imported from: doid.owl

Wolfram syndrome
type: Class
subclass of: syndrome
id: DOID:10632
database_cross_reference: UMLS_CUI:C0043207
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: NCI:C35133
database_cross_reference: ORDO:3463
database_cross_reference: GARD:7898
definition: A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.
database_cross_reference: MESH:D014929
database_cross_reference: SNOMEDCT_US_2020_03_01:70694009
in_subset: NCIthesaurus
imported from: doid.owl

cystinosis
type: Class
subclass of: autosomal recessive disease
subclass of: lysosomal storage disease
database_cross_reference: MESH:D003554
database_cross_reference: UMLS_CUI:C2931187
database_cross_reference: SNOMEDCT_US_2020_03_01:62332007
database_cross_reference: NCI:C129932
database_cross_reference: GARD:6236
definition: A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
database_cross_reference: ORDO:213
database_cross_reference: OMIM:219750
has_exact_synonym: cystine storage disease
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:219900
database_cross_reference: OMIM:219800
id: DOID:1064
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

schizotypal personality disorder
type: Class
subclass of: personality disorder
database_cross_reference: ICD10CM:F21
database_cross_reference: NCI:C92632
database_cross_reference: MESH:D012569
database_cross_reference: ICD9CM:301.22
id: DOID:10646
has_obo_namespace: disease_ontology
definition: A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
database_cross_reference: UMLS_CUI:C0036363
database_cross_reference: SNOMEDCT_US_2020_03_01:231486008
in_subset: NCIthesaurus
imported from: doid.owl

Alzheimer's disease
type: Class
subclass of: tauopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:73768007
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:10254
database_cross_reference: MESH:D000544
database_cross_reference: ICD9CM:331.0
database_cross_reference: EFO:0000249
database_cross_reference: UMLS_CUI:C0002395
definition: A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
id: DOID:10652
has_exact_synonym: Alzheimer disease
has_exact_synonym: Alzheimers dementia
database_cross_reference: NCI:C2866
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G30
database_cross_reference: KEGG:05010
in_subset: NCIthesaurus
imported from: doid.owl

lipoma of colon
type: Class
subclass of: colonic disease
subclass of: large intestine lipoma
id: DOID:10655
has_obo_namespace: disease_ontology
has_exact_synonym: Colonic Lipoma
database_cross_reference: NCI:C5493
database_cross_reference: UMLS_CUI:C0940607
in_subset: NCIthesaurus
imported from: doid.owl

open-angle glaucoma
type: Class
subclass of: glaucoma
comment: Xref MGI.
id: DOID:1067
database_cross_reference: OMIM:602429
database_cross_reference: OMIM:611274
database_cross_reference: OMIM:611276
database_cross_reference: OMIM:606689
database_cross_reference: OMIM:137750
database_cross_reference: OMIM:603383
database_cross_reference: OMIM:608695
database_cross_reference: SNOMEDCT_US_2020_03_01:84494001
database_cross_reference: OMIM:608696
database_cross_reference: ICD9CM:365.1
definition: A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
database_cross_reference: NCI:C34641
database_cross_reference: ICD10CM:H40.1
database_cross_reference: OMIM:177700
database_cross_reference: EFO:0004190
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D005902
database_cross_reference: OMIM:613100
database_cross_reference: UMLS_CUI:C0017612
database_cross_reference: OMIM:609745
database_cross_reference: OMIM:610535
database_cross_reference: OMIM:609887
has_exact_synonym: Wide-angle glaucoma
has_exact_synonym: glaucoma simplex
has_exact_synonym: open angle glaucoma
has_exact_synonym: pigmentary glaucoma
in_subset: NCIthesaurus
imported from: doid.owl

mastitis
type: Class
subclass of: breast disease
definition: A breast disease characterized by painful infection of the breast tissue.
database_cross_reference: SNOMEDCT_US_2020_03_01:155952005
database_cross_reference: UMLS_CUI:C0024894
database_cross_reference: NCI:C53662
id: DOID:10690
has_exact_synonym: Inflammatory breast disease
has_exact_synonym: Inflammatory disease of breast
database_cross_reference: MESH:D008413
has_obo_namespace: disease_ontology
has_exact_synonym: breast inflammation
in_subset: NCIthesaurus
imported from: doid.owl

chronic endophthalmitis
type: Class
subclass of: purulent endophthalmitis
database_cross_reference: ICD9CM:360.03
database_cross_reference: SNOMEDCT_US_2020_03_01:193269007
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154774
id: DOID:10697
imported from: doid.owl

paragonimiasis
type: Class
subclass of: splenic disease
subclass of: liver disease
subclass of: parasitic helminthiasis infectious disease
subclass of: brain disease
id: DOID:10699
definition: A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected.
database_cross_reference: MESH:D010237
database_cross_reference: ICD10CM:B66.4
database_cross_reference: GARD:9815
database_cross_reference: NCI:C84995
has_exact_synonym: Infection by Paragonimus
database_cross_reference: UMLS_CUI:C0030424
database_cross_reference: ICD9CM:121.2
database_cross_reference: SNOMEDCT_US_2020_03_01:30369007
has_obo_namespace: disease_ontology
has_exact_synonym: lung fluke disease
has_exact_synonym: lung fluke infection
has_exact_synonym: pulmonary paragonimiasis
in_subset: NCIthesaurus
imported from: doid.owl

primary open angle glaucoma
type: Class
subclass of: open-angle glaucoma
database_cross_reference: SNOMEDCT_US_2020_03_01:77075001
database_cross_reference: UMLS_CUI:C0339573
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:137760
definition: An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.
database_cross_reference: ICD10CM:H40.11
database_cross_reference: ICD9CM:365.11
database_cross_reference: NCI:C35394
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D005902
id: DOID:1070
has_exact_synonym: chronic simple glaucoma
in_subset: NCIthesaurus
imported from: doid.owl

giardiasis
type: Class
subclass of: parasitic protozoa infectious disease
id: DOID:10718
definition: A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting.
has_exact_synonym: Infection by Giardia lamblia
database_cross_reference: MESH:D005873
database_cross_reference: SNOMEDCT_US_2020_03_01:266176008
database_cross_reference: ICD10CM:A07.1
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0017536
database_cross_reference: ICD9CM:007.1
has_exact_synonym: beaver feaver
imported from: doid.owl

toxic diffuse goiter
type: Class
subclass of: hyperthyroidism
database_cross_reference: GARD:6549
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154138
database_cross_reference: ICD9CM:242.00
id: DOID:10719
imported from: doid.owl

kidney failure
type: Class
subclass of: kidney disease
database_cross_reference: ICD9CM:586
database_cross_reference: NCI:C4376
database_cross_reference: MESH:D051437
database_cross_reference: UMLS_CUI:C0035078
database_cross_reference: SNOMEDCT_US_2020_03_01:42399005
has_obo_namespace: disease_ontology
comment: PRISM.
definition: A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
id: DOID:1074
database_cross_reference: ICD10CM:N19
has_exact_synonym: renal failure
in_subset: NCIthesaurus
imported from: doid.owl

cerebral lipidosis
type: Class
subclass of: cerebral degeneration
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0007788
id: DOID:10742
database_cross_reference: SNOMEDCT_US_2020_03_01:16517004
database_cross_reference: ICD9CM:330.1
imported from: doid.owl

otitis media
type: Class
subclass of: middle ear disease
database_cross_reference: ICD9CM:382.9
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:65363002
id: DOID:10754
database_cross_reference: UMLS_CUI:C0029882
database_cross_reference: NCI:C34885
database_cross_reference: ICD10CM:H66.9
definition: A otitis which involves inflammation of the middle ear.
database_cross_reference: MESH:D010033
in_subset: NCIthesaurus
imported from: doid.owl

chronic pyelonephritis
type: Class
subclass of: pyelonephritis
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:N11
id: DOID:1076
database_cross_reference: NCI:C123216
database_cross_reference: ICD9CM:590.0
database_cross_reference: UMLS_CUI:C0085697
database_cross_reference: SNOMEDCT_US_2020_03_01:123293005
in_subset: NCIthesaurus
imported from: doid.owl

portal hypertension
type: Class
subclass of: hepatic vascular disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3119
id: DOID:10762
database_cross_reference: SNOMEDCT_US_2020_03_01:155821005
database_cross_reference: GARD:8229
database_cross_reference: MESH:D006975
database_cross_reference: ICD10CM:K76.6
database_cross_reference: UMLS_CUI:C0020541
database_cross_reference: ICD9CM:572.3
in_subset: NCIthesaurus
imported from: doid.owl

hypertension
type: Class
subclass of: artery disease
definition: An artery disease characterized by chronic elevated blood pressure in the arteries.
database_cross_reference: EFO:0000537
database_cross_reference: SNOMEDCT_US_2020_03_01:38341003
id: DOID:10763
has_exact_synonym: HTN
has_exact_synonym: High blood pressure
database_cross_reference: ICD9CM:401-405.99
database_cross_reference: MESH:D006973
database_cross_reference: UMLS_CUI:C0020538
database_cross_reference: ICD10CM:I10
database_cross_reference: NCI:C3117
has_obo_namespace: disease_ontology
has_exact_synonym: hyperpiesia
has_related_synonym: hypertensive disease
has_exact_synonym: vascular hypertensive disorder
in_subset: NCIthesaurus
imported from: doid.owl

thrombotic thrombocytopenic purpura
type: Class
subclass of: thrombophilia
database_cross_reference: UMLS_CUI:C0034155
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9430
database_cross_reference: OMIM:274150
database_cross_reference: ICD10CM:M31.1
database_cross_reference: MESH:D011697
database_cross_reference: NCI:C78797
id: DOID:10772
has_exact_synonym: Moschcowitz's syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:360402008
in_subset: NCIthesaurus
imported from: doid.owl

fiedler's myocarditis
type: Class
subclass of: acute myocarditis
database_cross_reference: SNOMEDCT_US_2020_03_01:194954007
has_obo_namespace: disease_ontology
id: DOID:10778
database_cross_reference: ICD9CM:422.91
database_cross_reference: ICD10CM:I40.1
has_exact_synonym: Idiopathic myocarditis
has_exact_synonym: Isolated (Fiedler's) myocarditis
database_cross_reference: UMLS_CUI:C0155689
has_exact_synonym: fiedler myocarditis
imported from: doid.owl

methemoglobinemia
type: Class
subclass of: hemoglobinopathy
database_cross_reference: ICD10CM:D74
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0025637
database_cross_reference: MESH:D008708
id: DOID:10783
database_cross_reference: ICD9CM:289.7
database_cross_reference: NCI:C34817
database_cross_reference: SNOMEDCT_US_2020_03_01:191386007
in_subset: NCIthesaurus
imported from: doid.owl

Queensland tick typhus
type: Class
subclass of: spotted fever
has_obo_namespace: disease_ontology
id: DOID:10784
definition: A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.
has_exact_synonym: Australian tick typhus
has_alternative_id: DOID:0050038
has_related_synonym: North Queensland tick typhus
has_exact_synonym: Rickettsia australis spotted fever
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

frontal sinusitis
type: Class
subclass of: sinusitis
database_cross_reference: ICD10CM:J32.1
database_cross_reference: MESH:D015522
id: DOID:10791
database_cross_reference: UMLS_CUI:C0016735
database_cross_reference: NCI:C34626
database_cross_reference: SNOMEDCT_US_2020_03_01:275485006
has_obo_namespace: disease_ontology
definition: A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.
in_subset: NCIthesaurus
imported from: doid.owl

chronic maxillary sinusitis
type: Class
subclass of: maxillary sinusitis
database_cross_reference: SNOMEDCT_US_2020_03_01:195785003
database_cross_reference: UMLS_CUI:C0008698
definition: A maxillary sinusitis which lasts for 12 weeks or more.
database_cross_reference: ICD10CM:J32.0
id: DOID:10792
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:473.0
database_cross_reference: NCI:C34477
has_exact_synonym: chronic antritis
in_subset: NCIthesaurus
imported from: doid.owl

sphenoid sinusitis
type: Class
subclass of: sinusitis
database_cross_reference: UMLS_CUI:C0037886
database_cross_reference: NCI:C35031
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:13266007
definition: A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head.
database_cross_reference: MESH:D015524
database_cross_reference: ICD10CM:J32.3
id: DOID:10794
has_exact_synonym: Sphenoidal sinusitis
in_subset: NCIthesaurus
imported from: doid.owl

filariasis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: NCI:C34611
database_cross_reference: UMLS_CUI:C0016085
database_cross_reference: ICD10CM:B74
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:125.9
database_cross_reference: MESH:D005368
id: DOID:1080
database_cross_reference: SNOMEDCT_US_2020_03_01:50342004
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
has_exact_synonym: disease due to superfamily Filarioidea
in_subset: NCIthesaurus
imported from: doid.owl

nasal cavity cancer
type: Class
subclass of: respiratory system cancer
subclass of: nasal cavity disease
database_cross_reference: SNOMEDCT_US_2020_03_01:93917007
database_cross_reference: ICD10CM:C30.0
definition: A respiratory system cancer that is located_in the nasal cavity.
database_cross_reference: UMLS_CUI:C0728864
has_obo_namespace: disease_ontology
id: DOID:10811
database_cross_reference: NCI:C4918
database_cross_reference: ICD9CM:160.0
has_exact_synonym: malignant neoplasm of nasal cavities
has_exact_synonym: malignant tumor of the nasal cavity
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

nasal cavity lymphoma
type: Class
subclass of: lymphoma
subclass of: nasal cavity cancer
database_cross_reference: UMLS_CUI:C1334921
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6074
id: DOID:10813
has_exact_synonym: Lymphoma of the nasal cavity
has_exact_synonym: lymphoma of nasal cavity
in_subset: NCIthesaurus
imported from: doid.owl

duodenum adenocarcinoma
type: Class
subclass of: duodenum cancer
subclass of: adenocarcinoma
database_cross_reference: NCI:C7889
has_obo_namespace: disease_ontology
definition: A duodenum cancer that derives_from epithelial cells of glandular origin.
database_cross_reference: UMLS_CUI:C0278804
database_cross_reference: SNOMEDCT_US_2020_03_01:408644002
id: DOID:10816
has_exact_synonym: Duodenal adenocarcinoma
in_subset: NCIthesaurus
imported from: doid.owl

dirofilariasis
type: Class
subclass of: filariasis
subclass of: skin disease
subclass of: lung disease
definition: A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.
id: DOID:1082
database_cross_reference: UMLS_CUI:C0012602
database_cross_reference: ICD10CM:B74.8
has_exact_synonym: Infection by Dirofilaria
database_cross_reference: MESH:D004184
database_cross_reference: SNOMEDCT_US_2020_03_01:73328005
database_cross_reference: GARD:11908
has_exact_synonym: Dirofilaria infectious disease
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease
imported from: doid.owl

voyeurism
type: Class
subclass of: paraphilia disorder
database_cross_reference: NCI:C94360
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0042979
database_cross_reference: ICD9CM:302.82
database_cross_reference: ICD10CM:F65.3
database_cross_reference: MESH:D014843
id: DOID:10834
database_cross_reference: SNOMEDCT_US_2020_03_01:192515002
in_subset: NCIthesaurus
imported from: doid.owl

Eastern equine encephalitis
type: Class
subclass of: viral infectious disease
subclass of: brain disease
database_cross_reference: GARD:10821
has_obo_namespace: disease_ontology
id: DOID:10841
database_cross_reference: MESH:D020242
has_exact_synonym: Neuroinvasive Eastern equine encephalitis virus infection
database_cross_reference: SNOMEDCT_US_2020_03_01:40177004
database_cross_reference: ICD9CM:062.2
database_cross_reference: UMLS_CUI:C0153065
definition: A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma.
has_related_synonym: EEE
database_cross_reference: ICD10CM:A83.2
in_subset: zoonotic infectious disease
imported from: doid.owl

Murray Valley encephalitis
type: Class
subclass of: viral infectious disease
subclass of: brain disease
database_cross_reference: SNOMEDCT_US_2020_03_01:66454007
has_exact_synonym: Australian X disease
database_cross_reference: ICD9CM:062.4
database_cross_reference: UMLS_CUI:C0153066
has_exact_synonym: Australian encephalitis
id: DOID:10842
database_cross_reference: ICD10CM:A83.4
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness.
has_obo_namespace: disease_ontology
imported from: doid.owl

Western equine encephalitis
type: Class
subclass of: viral infectious disease
subclass of: brain disease
id: DOID:10843
database_cross_reference: SNOMEDCT_US_2020_03_01:47523006
definition: A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness.
database_cross_reference: ICD9CM:062.1
database_cross_reference: MESH:D020241
database_cross_reference: ICD10CM:A83.1
database_cross_reference: UMLS_CUI:C0153064
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7888
database_cross_reference: NCI:C85227
has_related_synonym: WEE
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

Japanese encephalitis
type: Class
subclass of: viral infectious disease
subclass of: brain disease
database_cross_reference: MESH:D004672
database_cross_reference: ICD10CM:A83.0
database_cross_reference: SNOMEDCT_US_2020_03_01:266194002
database_cross_reference: GARD:6797
database_cross_reference: UMLS_CUI:C0014057
database_cross_reference: ICD9CM:062.0
has_exact_synonym: Japanese B encephalitis
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34577
id: DOID:10844
definition: A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.
in_subset: NCIthesaurus
imported from: doid.owl

St. Louis encephalitis
type: Class
subclass of: viral infectious disease
database_cross_reference: ICD10CM:A83.3
database_cross_reference: UMLS_CUI:C0014060
has_obo_namespace: disease_ontology
id: DOID:10845
database_cross_reference: ICD9CM:062.3
database_cross_reference: SNOMEDCT_US_2020_03_01:10429004
database_cross_reference: MESH:D004674
definition: A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis.
has_exact_synonym: Neuroinvasive St. Louis encephalitis virus infection
imported from: doid.owl

Edwards syndrome
type: Class
subclass of: chromosomal duplication syndrome
database_cross_reference: NCI:C101362
has_exact_synonym: Complete trisomy 18 syndrome
database_cross_reference: ICD9CM:758.2
has_obo_namespace: disease_ontology
has_exact_synonym: E3 Trisomy
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: MESH:D000073842
database_cross_reference: SNOMEDCT_US_2020_03_01:51500006
database_cross_reference: UMLS_CUI:C0152096
id: DOID:1085
definition: A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.
has_exact_synonym: trisomy 18
in_subset: NCIthesaurus
imported from: doid.owl

salivary gland disease
type: Class
subclass of: mouth disease
has_alternative_id: DOID:12898
id: DOID:10854
database_cross_reference: UMLS_CUI:C0029773
definition: A mouth disease located_in the salivary gland.
database_cross_reference: ICD9CM:527.8
has_exact_synonym: Salivary gland disease
has_obo_namespace: disease_ontology
has_exact_synonym: Non-neoplastic Salivary gland disease
imported from: doid.owl

paralytic squint
type: Class
subclass of: strabismus
id: DOID:10863
has_exact_synonym: Incomitant dissociation
database_cross_reference: SNOMEDCT_US_2020_03_01:12942001
database_cross_reference: ICD10CM:H49
database_cross_reference: UMLS_CUI:C0152221
has_exact_synonym: Paralytic strabismus
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:378.5
imported from: doid.owl

age related macular degeneration
type: Class
subclass of: autosomal dominant disease
subclass of: degeneration of macula and posterior pole
database_cross_reference: NCI:C84391
has_obo_namespace: disease_ontology
id: DOID:10871
definition: A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
database_cross_reference: UMLS_CUI:C0242383
has_exact_synonym: Age Related Maculopathies
database_cross_reference: OMIM:PS603075
database_cross_reference: ICD9CM:362.50
database_cross_reference: MESH:D008268
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Age Related Maculopathy
database_cross_reference: EFO:0001365
database_cross_reference: SNOMEDCT_US_2020_03_01:18222007
database_cross_reference: ICD10CM:H35.30
has_exact_synonym: Senile macular degeneration
has_exact_synonym: Senile macular retinal degeneration
has_exact_synonym: age-related macular degeneration
in_subset: NCIthesaurus
imported from: doid.owl

Kuhnt-Junius degeneration
type: Class
subclass of: degeneration of macula and posterior pole
database_cross_reference: SNOMEDCT_US_2020_03_01:11290001
database_cross_reference: ICD10CM:H35.32
database_cross_reference: UMLS_CUI:C0271084
database_cross_reference: ICD9CM:362.52
id: DOID:10873
has_exact_synonym: Exudative senile macular degeneration of retina
has_exact_synonym: Neovascular age-related macular degeneration
has_exact_synonym: Wet senile macular retinal degeneration
has_obo_namespace: disease_ontology
has_exact_synonym: Senile macular degeneration, wet
imported from: doid.owl

meningocele
type: Class
subclass of: spina bifida
definition: A spina bifida that is characterized by herniation of the meninges between the vertebrae.
database_cross_reference: UMLS_CUI:C0025299
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:268308005
id: DOID:1088
imported from: doid.owl

hand, foot and mouth disease
type: Class
subclass of: viral infectious disease
id: DOID:10881
database_cross_reference: NCI:C128439
database_cross_reference: MESH:D006232
definition: A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.
database_cross_reference: ICD9CM:074.3
database_cross_reference: UMLS_CUI:C0018572
database_cross_reference: SNOMEDCT_US_2020_03_01:175497008
database_cross_reference: ICD10CM:B08.4
has_exact_synonym: Vesicular stomatitis and exanthem
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

epidemic pleurodynia
type: Class
subclass of: muscular disease
subclass of: viral infectious disease
definition: A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache.
id: DOID:10882
database_cross_reference: MESH:D011000
database_cross_reference: ICD9CM:074.1
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:B33.0
database_cross_reference: UMLS_CUI:C0032238
database_cross_reference: SNOMEDCT_US_2020_03_01:83264000
has_exact_synonym: Bamble disease
has_exact_synonym: Bornholm disease
has_exact_synonym: Epidemic pleurisy
has_exact_synonym: Epidemic, myositis
has_exact_synonym: devil's grip
has_exact_synonym: epidemic myalgia
imported from: doid.owl

herpangina
type: Class
subclass of: mouth disease
subclass of: viral infectious disease
database_cross_reference: ICD9CM:074.0
definition: A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:B08.5
database_cross_reference: UMLS_CUI:C0019338
database_cross_reference: MESH:D006557
id: DOID:10883
database_cross_reference: SNOMEDCT_US_2020_03_01:154358007
has_exact_synonym: Vesicular pharyngitis
imported from: doid.owl

tethered spinal cord syndrome
type: Class
subclass of: spinal cord disease
database_cross_reference: UMLS_CUI:C0560648
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [LS].
id: DOID:1089
database_cross_reference: SNOMEDCT_US_2020_03_01:282784007
database_cross_reference: GARD:4018
has_exact_synonym: spinal dysraphism
in_subset: NCIthesaurus
imported from: doid.owl

hypospadias
type: Class
subclass of: physical disorder
database_cross_reference: OMIM:300633
database_cross_reference: SNOMEDCT_US_2020_03_01:156968008
database_cross_reference: OMIM:300856
id: DOID:10892
database_cross_reference: ICD10CM:Q54
database_cross_reference: MESH:D007021
database_cross_reference: UMLS_CUI:C0848558
database_cross_reference: OMIM:146450
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C40341
has_obo_namespace: disease_ontology
definition: A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
database_cross_reference: ORDO:440
database_cross_reference: OMIM:300758
has_exact_synonym: familial hypospadias
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

microcephaly
type: Class
subclass of: congenital nervous system abnormality
database_cross_reference: MESH:D008831
database_cross_reference: UMLS_CUI:C0025958
database_cross_reference: NCI:C85874
database_cross_reference: GARD:3603
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:156893009
database_cross_reference: GARD:7038
database_cross_reference: ICD10CM:Q02
database_cross_reference: ICD9CM:742.1
has_obo_namespace: disease_ontology
definition: A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
id: DOID:10907
has_exact_synonym: Microcephalus
has_exact_synonym: microencephaly
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

hydrocephalus
type: Class
subclass of: cerebral degeneration
database_cross_reference: MESH:D006849
database_cross_reference: OMIM:615219
database_cross_reference: OMIM:123155
database_cross_reference: ORDO:2182
database_cross_reference: OMIM:307000
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:236635
database_cross_reference: ORDO:2185
database_cross_reference: ICD10CM:G91
database_cross_reference: NCI:C3111
definition: A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
database_cross_reference: GARD:6682
database_cross_reference: SNOMEDCT_US_2020_03_01:267687006
database_cross_reference: UMLS_CUI:C0020255
id: DOID:10908
database_cross_reference: OMIM:236600
has_obo_namespace: disease_ontology
has_exact_synonym: hydrocephalus, X-linked
has_exact_synonym: hydrocephalus, nonsyndromic, autosomal recessive
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

tooth disease
type: Class
subclass of: mouth disease
has_exact_synonym: teeth disease
database_cross_reference: UMLS_CUI:C0040435
database_cross_reference: SNOMEDCT_US_2020_03_01:72722003
definition: A mouth disease located_in the teeth.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D014076
id: DOID:1091
imported from: doid.owl

amnestic disorder
type: Class
subclass of: cognitive disorder
database_cross_reference: ICD10CM:R41.3
database_cross_reference: SNOMEDCT_US_2020_03_01:247606008
database_cross_reference: MESH:D000647
database_cross_reference: NCI:C2867
id: DOID:10914
definition: A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
has_exact_synonym: Amnestic syndrome
has_exact_synonym: Korsakoff's psychosis or syndrome
database_cross_reference: UMLS_CUI:C0002625
database_cross_reference: UMLS_CUI:C0002622
has_exact_synonym: amnesia
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:3298001
database_cross_reference: ICD9CM:294.0
has_alternative_id: DOID:4544
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Wernicke-Korsakoff syndrome
type: Class
subclass of: thiamine deficiency disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:69482004
database_cross_reference: MESH:D020915
id: DOID:10915
database_cross_reference: UMLS_CUI:C0349464
definition: A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency.
has_exact_synonym: Korsakoff Syndrome
has_exact_synonym: Korsakoff's psychosis
has_exact_synonym: Korsakoff's syndrome
has_exact_synonym: Korsakov psychosis
has_exact_synonym: Korsakov's psychosis
database_cross_reference: OMIM:277730
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: NCI:C35764
in_subset: NCIthesaurus
imported from: doid.owl

transsexualism
type: Class
subclass of: gender identity disorder
database_cross_reference: UMLS_CUI:C0040630
id: DOID:10919
database_cross_reference: ICD9CM:302.50
definition: A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex.
database_cross_reference: SNOMEDCT_US_2020_03_01:191782007
has_obo_namespace: disease_ontology
imported from: doid.owl

sickle cell anemia
type: Class
subclass of: autosomal recessive disease
subclass of: blood protein disease
database_cross_reference: ICD10CM:D57.2
database_cross_reference: ICD10CM:D57.1
database_cross_reference: ICD9CM:282.63
database_cross_reference: NCI:C34676
database_cross_reference: UMLS_CUI:C0002895
definition: A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
database_cross_reference: SNOMEDCT_US_2020_03_01:154798006
has_alternative_id: DOID:13024
database_cross_reference: MESH:D000755
has_alternative_id: DOID:12924
id: DOID:10923
database_cross_reference: UMLS_CUI:C0019034
database_cross_reference: ICD9CM:282.6
has_obo_namespace: disease_ontology
has_exact_synonym: Hb SC disease
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: ORDO:232
database_cross_reference: NCI:C34383
database_cross_reference: OMIM:603903
database_cross_reference: SNOMEDCT_US_2020_03_01:35434009
database_cross_reference: GARD:8614
database_cross_reference: MESH:D006450
has_exact_synonym: Hb-S/Hb-C disease
has_exact_synonym: Hb-SS disease without crisis
has_exact_synonym: Hemoglobin S disease without crisis
has_exact_synonym: Sickle-cell/Hb-C disease without crisis
has_exact_synonym: drepanocytosis
has_exact_synonym: haemoglobin SC disease
has_exact_synonym: hemoglobin SC disease
has_exact_synonym: sickle cell anaemia
in_subset: NCIthesaurus
imported from: doid.owl

borderline personality disorder
type: Class
subclass of: personality disorder
database_cross_reference: UMLS_CUI:C0006012
definition: A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
database_cross_reference: ICD9CM:301.83
database_cross_reference: SNOMEDCT_US_2020_03_01:20010003
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:F60.3
database_cross_reference: NCI:C92633
database_cross_reference: MESH:D001883
id: DOID:10930
in_subset: NCIthesaurus
imported from: doid.owl

dependent personality disorder
type: Class
subclass of: personality disorder
database_cross_reference: ICD9CM:301.6
definition: A personality disorder that is characterized by a pervasive psychological dependence on other people.
database_cross_reference: SNOMEDCT_US_2020_03_01:192492003
database_cross_reference: ICD10CM:F60.7
id: DOID:10931
database_cross_reference: NCI:C92637
database_cross_reference: UMLS_CUI:C0011548
database_cross_reference: MESH:D003859
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

obsessive-compulsive personality disorder
type: Class
subclass of: personality disorder
definition: A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency.
has_related_synonym: Anankastic personality disorder
id: DOID:10932
database_cross_reference: MESH:D003193
database_cross_reference: SNOMEDCT_US_2020_03_01:191761001
database_cross_reference: UMLS_CUI:C0009595
database_cross_reference: ICD10CM:F60.5
database_cross_reference: ICD9CM:301.4
database_cross_reference: NCI:C92638
has_exact_synonym: OCPD
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

multiple personality disorder
type: Class
subclass of: dissociative disorder
database_cross_reference: UMLS_CUI:C0026773
id: DOID:10934
database_cross_reference: ICD10CM:F44.81
has_obo_namespace: disease_ontology
definition: A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
database_cross_reference: NCI:C94330
database_cross_reference: SNOMEDCT_US_2020_03_01:31611000
database_cross_reference: MESH:D009105
has_exact_synonym: Dissociative identity disorder
database_cross_reference: ICD9CM:300.14
in_subset: NCIthesaurus
imported from: doid.owl

dissociative disorder
type: Class
subclass of: disease of mental health
database_cross_reference: ICD10CM:F48.9
database_cross_reference: UMLS_CUI:C0041857
database_cross_reference: ICD9CM:300.15
definition: A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
database_cross_reference: SNOMEDCT_US_2020_03_01:154883004
database_cross_reference: ICD9CM:300.9
database_cross_reference: ICD10CM:F44.9
database_cross_reference: UMLS_CUI:C0012746
has_alternative_id: DOID:4963
has_obo_namespace: disease_ontology
id: DOID:10935
database_cross_reference: MESH:D004213
database_cross_reference: NCI:C92197
has_exact_synonym: dissociative disease
has_exact_synonym: dissociative reaction
in_subset: NCIthesaurus
imported from: doid.owl

schizoid personality disorder
type: Class
subclass of: personality disorder
definition: A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world.
database_cross_reference: UMLS_CUI:C0036339
database_cross_reference: MESH:D012557
id: DOID:10936
database_cross_reference: ICD10CM:F60.1
database_cross_reference: ICD9CM:301.2
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:192486009
database_cross_reference: NCI:C92631
in_subset: NCIthesaurus
imported from: doid.owl

impulse control disorder
type: Class
subclass of: disease of mental health
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:192098008
database_cross_reference: UMLS_CUI:C0021122
database_cross_reference: ICD9CM:312.30
id: DOID:10937
database_cross_reference: MESH:D007174
database_cross_reference: NCI:C34723
database_cross_reference: ICD10CM:F63.9
definition: A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
in_subset: NCIthesaurus
imported from: doid.owl

paranoid personality disorder
type: Class
subclass of: personality disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:270529002
definition: A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
database_cross_reference: ICD10CM:F60.0
database_cross_reference: ICD9CM:301.0
database_cross_reference: NCI:C92630
has_obo_namespace: disease_ontology
id: DOID:10938
database_cross_reference: MESH:D010260
database_cross_reference: UMLS_CUI:C0030477
in_subset: NCIthesaurus
imported from: doid.owl

antisocial personality disorder
type: Class
subclass of: personality disorder
has_exact_synonym: Asocial personality
id: DOID:10939
database_cross_reference: SNOMEDCT_US_2020_03_01:191769004
has_exact_synonym: Dissocial personality disorder
database_cross_reference: ICD9CM:301.7
database_cross_reference: NCI:C88413
database_cross_reference: MESH:D000987
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:F60.2
definition: A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
has_exact_synonym: Psychopath.personality
has_exact_synonym: Psychopathic personality
has_exact_synonym: Psychopathic personality disorder
database_cross_reference: UMLS_CUI:C0003431
has_exact_synonym: sociopathic personality
in_subset: NCIthesaurus
imported from: doid.owl

attention deficit hyperactivity disorder
type: Class
subclass of: specific developmental disorder
database_cross_reference: OMIM:612311
database_cross_reference: EFO:0003888
database_cross_reference: SNOMEDCT_US_2020_03_01:229713001
comment: Xref MGI.
database_cross_reference: MESH:D001289
id: DOID:1094
definition: A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.
has_exact_synonym: ADHD
database_cross_reference: UMLS_CUI:C0041671
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:608904
database_cross_reference: OMIM:608905
database_cross_reference: OMIM:608903
database_cross_reference: OMIM:608906
database_cross_reference: NCI:C35092
has_alternative_id: DOID:1093
database_cross_reference: OMIM:143465
database_cross_reference: OMIM:612312
has_exact_synonym: attention deficit disorder
has_exact_synonym: hyperkinetic disorder
in_subset: NCIthesaurus
imported from: doid.owl

intracranial aneurysm
type: Class
subclass of: cerebral arterial disease
database_cross_reference: UMLS_CUI:C0007766
database_cross_reference: SNOMEDCT_US_2020_03_01:128609009
database_cross_reference: NCI:C34458
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0003870
database_cross_reference: MESH:D002532
id: DOID:10941
has_exact_synonym: brain aneurysm
in_subset: NCIthesaurus
imported from: doid.owl

tongue disease
type: Class
subclass of: mouth disease
database_cross_reference: SNOMEDCT_US_2020_03_01:69244009
database_cross_reference: ICD10CM:K14
has_obo_namespace: disease_ontology
id: DOID:10944
database_cross_reference: MESH:D014060
definition: A mouth disease located_in the tongue.
database_cross_reference: UMLS_CUI:C0040409
database_cross_reference: ICD9CM:529.9
imported from: doid.owl

nephritis
type: Class
subclass of: kidney disease
database_cross_reference: MESH:D009393
definition: A kidney disease that is characterized by an inflammation of the kidneys.
has_obo_namespace: disease_ontology
id: DOID:10952
database_cross_reference: UMLS_CUI:C0027697
database_cross_reference: ICD10CM:N08
database_cross_reference: NCI:C26833
database_cross_reference: SNOMEDCT_US_2020_03_01:52845002
in_subset: NCIthesaurus
imported from: doid.owl

strongyloidiasis
type: Class
subclass of: central nervous system disease
subclass of: skin disease
subclass of: intestinal disease
subclass of: lung disease
subclass of: parasitic helminthiasis infectious disease
has_obo_namespace: disease_ontology
id: DOID:10955
database_cross_reference: GARD:8195
has_alternative_id: DOID:0050008
has_exact_synonym: Infection by Strongyloides
database_cross_reference: SNOMEDCT_US_2020_03_01:1214006
database_cross_reference: ICD9CM:127.2
database_cross_reference: ICD10CM:B78
database_cross_reference: NCI:C128398
database_cross_reference: UMLS_CUI:C0038463
definition: A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
database_cross_reference: MESH:D013322
has_exact_synonym: disseminated strongyloidiasis
in_subset: NCIthesaurus
imported from: doid.owl

spastic diplegia
type: Class
subclass of: spastic cerebral palsy
database_cross_reference: MESH:D002547
definition: A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.
database_cross_reference: SNOMEDCT_US_2020_03_01:1178005
database_cross_reference: SNOMEDCT_US_2020_03_01:275469001
database_cross_reference: ICD9CM:343.0
id: DOID:10965
has_exact_synonym: Infantile spastic cerebral palsy
database_cross_reference: UMLS_CUI:C0154695
database_cross_reference: UMLS_CUI:C0023882
has_alternative_id: DOID:3778
has_exact_synonym: Little's disease
database_cross_reference: NCI:C34781
has_exact_synonym: cerebral spastic infantile paralysis
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G80.1
has_exact_synonym: Diplegic infantile cerebral palsy
has_exact_synonym: Littles disease
has_exact_synonym: infantile diplegic cerebral palsy
in_subset: NCIthesaurus
imported from: doid.owl

spastic hemiplegia
type: Class
subclass of: spastic cerebral palsy
id: DOID:10967
database_cross_reference: UMLS_CUI:C0270805
has_obo_namespace: disease_ontology
definition: A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally.
database_cross_reference: SNOMEDCT_US_2020_03_01:258714003
has_exact_synonym: Congenital hemiplegia
database_cross_reference: ICD9CM:343.1
database_cross_reference: GARD:10448
has_exact_synonym: Hemiplegic cerebral palsy
has_exact_synonym: Hemiplegic infantile cerebral palsy
has_exact_synonym: hemiplegic cerebral palsy
has_exact_synonym: spastic hemiplegic cerebral palsy
imported from: doid.owl

hemiplegia
type: Class
subclass of: central nervous system disease
database_cross_reference: ICD9CM:343.4
definition: A central nervous system disease that is characterized by the complete paralysis of half of the body.
has_exact_synonym: Infantile hemiplegia
has_exact_synonym: Postnatal infantile hemiplegia
database_cross_reference: SNOMEDCT_US_2020_03_01:155024003
id: DOID:10969
database_cross_reference: UMLS_CUI:C0392550
database_cross_reference: GARD:6583
database_cross_reference: MESH:D006429
has_obo_namespace: disease_ontology
imported from: doid.owl

spastic quadriplegia
type: Class
subclass of: spastic cerebral palsy
database_cross_reference: ICD9CM:343.2
database_cross_reference: SNOMEDCT_US_2020_03_01:192953000
database_cross_reference: OMIM:612900
id: DOID:10970
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:210141
definition: A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking.
comment: Xref MGI.
database_cross_reference: MESH:D002547
database_cross_reference: OMIM:603513
database_cross_reference: UMLS_CUI:C0154697
has_exact_synonym: quadriplegic infantile cerebral palsy
has_exact_synonym: spastic quadriplegic cerebral palsy
has_exact_synonym: tetraplegic infantile cerebral palsy
in_subset: DO rare slim
imported from: doid.owl

salpingo-oophoritis
type: Class
subclass of: oophoritis
database_cross_reference: ICD10CM:N70
id: DOID:10972
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:614.2
database_cross_reference: SNOMEDCT_US_2020_03_01:46536000
database_cross_reference: UMLS_CUI:C0036133
has_exact_synonym: Salpingitis/oophoritis
has_exact_synonym: Tubo-ovarian inflammatory disease
imported from: doid.owl

acute salpingitis
type: Class
subclass of: salpingitis
database_cross_reference: ICD10CM:N70.01
database_cross_reference: NCI:C40120
database_cross_reference: UMLS_CUI:C0269038
database_cross_reference: SNOMEDCT_US_2020_03_01:8912009
has_obo_namespace: disease_ontology
id: DOID:10973
in_subset: NCIthesaurus
imported from: doid.owl

oophoritis
type: Class
subclass of: ovarian disease
database_cross_reference: ICD10CM:N70.92
has_obo_namespace: disease_ontology
definition: An ovarian disease that is characterized by inflammation of the ovary.
database_cross_reference: SNOMEDCT_US_2020_03_01:266648001
id: DOID:10974
database_cross_reference: UMLS_CUI:C0029051
database_cross_reference: MESH:D009869
imported from: doid.owl

membranous glomerulonephritis
type: Class
subclass of: glomerulonephritis
database_cross_reference: UMLS_CUI:C0017665
database_cross_reference: EFO:0004254
database_cross_reference: ICD10CM:N03.2
database_cross_reference: SNOMEDCT_US_2020_03_01:197710000
id: DOID:10976
database_cross_reference: NCI:C34645
database_cross_reference: MESH:D015433
has_obo_namespace: disease_ontology
has_exact_synonym: membranous nephropathy
in_subset: NCIthesaurus
imported from: doid.owl

Alport syndrome
type: Class
subclass of: monogenic disease
subclass of: syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:57333009
definition: A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027706
database_cross_reference: MESH:D009394
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:63
id: DOID:10983
database_cross_reference: GARD:5785
has_exact_synonym: Hereditary Nephritis
in_subset: DO MGI slim
imported from: doid.owl

alpha thalassemia
type: Class
subclass of: thalassemia
has_exact_synonym: Alpha thalassaemia
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34368
database_cross_reference: UMLS_CUI:C0002312
database_cross_reference: MESH:D017085
database_cross_reference: ICD10CM:D56.0
id: DOID:1099
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:191186002
database_cross_reference: ICD9CM:282.43
database_cross_reference: OMIM:604131
definition: Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
database_cross_reference: GARD:621
has_exact_synonym: alpha-Thalassemia
in_subset: NCIthesaurus
imported from: doid.owl

acute hemorrhagic leukoencephalitis
type: Class
subclass of: acute disseminated encephalomyelitis
database_cross_reference: OMIM:606752
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D004684
database_cross_reference: SNOMEDCT_US_2020_03_01:72986009
database_cross_reference: NCI:C84535
id: DOID:10992
definition: A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.
database_cross_reference: GARD:8629
has_exact_synonym: Weston-Hurst syndrome
has_exact_synonym: acute hemorrhagic encephalomyelitis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0014077
has_exact_synonym: AHL
has_exact_synonym: acute haemorrhagic leucoencephalitis of Weston Hurst
has_exact_synonym: acute necrotizing hemorrhagic leukoencephalitis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

lens disease
type: Class
subclass of: eye disease
database_cross_reference: UMLS_CUI:C0023308
database_cross_reference: ICD10CM:H27.9
database_cross_reference: MESH:D007905
id: DOID:110
database_cross_reference: SNOMEDCT_US_2020_03_01:194613002
has_obo_namespace: disease_ontology
definition: An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye.
database_cross_reference: NCI:C26812
in_subset: NCIthesaurus
imported from: doid.owl

ovarian disease
type: Class
subclass of: gonadal disease
subclass of: female reproductive system disease
database_cross_reference: MESH:D010049
database_cross_reference: SNOMEDCT_US_2020_03_01:5552004
database_cross_reference: NCI:C26841
definition: A female reproductive system disease that is located_in the ovary.
database_cross_reference: UMLS_CUI:C0029928
id: DOID:1100
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

pseudopterygium
type: Class
subclass of: corneal disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:372.52
id: DOID:11028
database_cross_reference: SNOMEDCT_US_2020_03_01:66139007
database_cross_reference: UMLS_CUI:C0155161
imported from: doid.owl

pinguecula
type: Class
subclass of: conjunctival degeneration
database_cross_reference: NCI:C129468
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:267735001
database_cross_reference: UMLS_CUI:C0152255
database_cross_reference: MESH:D059407
id: DOID:11029
database_cross_reference: ICD9CM:372.51
database_cross_reference: ICD10CM:H11.15
in_subset: NCIthesaurus
imported from: doid.owl

corneal edema
type: Class
subclass of: corneal disease
database_cross_reference: NCI:C50508
database_cross_reference: ICD9CM:371.2
database_cross_reference: MESH:D015715
database_cross_reference: ICD10CM:H18.20
database_cross_reference: SNOMEDCT_US_2020_03_01:193811006
has_exact_synonym: Corneal oedema
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0010037
id: DOID:11030
in_subset: NCIthesaurus
imported from: doid.owl

bullous keratopathy
type: Class
subclass of: corneal edema
database_cross_reference: ICD9CM:371.23
id: DOID:11031
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:193815002
database_cross_reference: UMLS_CUI:C0155111
database_cross_reference: ICD10CM:H18.1
database_cross_reference: NCI:C26970
in_subset: NCIthesaurus
imported from: doid.owl

idiopathic corneal edema
type: Class
subclass of: corneal edema
database_cross_reference: ICD9CM:371.21
database_cross_reference: UMLS_CUI:C0155109
database_cross_reference: ICD10CM:H18.22
id: DOID:11033
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:193813009
imported from: doid.owl

dissociative amnesia
type: Class
subclass of: dissociative disorder
database_cross_reference: UMLS_CUI:C0236795
database_cross_reference: SNOMEDCT_US_2020_03_01:192420000
id: DOID:11037
database_cross_reference: MESH:D000647
has_obo_namespace: disease_ontology
definition: A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress.
database_cross_reference: ICD9CM:300.12
database_cross_reference: NCI:C94328
database_cross_reference: ICD10CM:F44.0
has_exact_synonym: psychogenic amnesia
in_subset: NCIthesaurus
imported from: doid.owl

depersonalization disorder
type: Class
subclass of: dissociative disorder
database_cross_reference: NCI:C94331
id: DOID:11038
database_cross_reference: UMLS_CUI:C0683416
database_cross_reference: MESH:D003861
definition: A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
has_exact_synonym: Neurotic derealization
database_cross_reference: SNOMEDCT_US_2020_03_01:70764005
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6260
database_cross_reference: ICD9CM:300.6
in_subset: NCIthesaurus
imported from: doid.owl

Felty's syndrome
type: Class
subclass of: syndrome
subclass of: autoimmune disease
database_cross_reference: NCI:C84712
database_cross_reference: OMIM:134750
database_cross_reference: ICD9CM:714.1
id: DOID:11042
database_cross_reference: ICD10CM:M05.0
database_cross_reference: MESH:D005258
database_cross_reference: GARD:8234
database_cross_reference: UMLS_CUI:C0015773
has_obo_namespace: disease_ontology
definition: A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia.
database_cross_reference: SNOMEDCT_US_2020_03_01:57160007
has_exact_synonym: Felty syndrome
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Rheumatoid arthritis with splenoadenomegaly and leukopenia
in_subset: NCIthesaurus
imported from: doid.owl

gastroschisis
type: Class
subclass of: physical disorder
database_cross_reference: ICD9CM:756.73
id: DOID:11044
database_cross_reference: NCI:C84725
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q79.3
database_cross_reference: MESH:D020139
database_cross_reference: OMIM:230750
database_cross_reference: SNOMEDCT_US_2020_03_01:72951007
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0265706
database_cross_reference: GARD:8661
in_subset: NCIthesaurus
imported from: doid.owl

meconium aspiration syndrome
type: Class
subclass of: lung disease
database_cross_reference: NCI:C87093
id: DOID:11049
database_cross_reference: UMLS_CUI:C0025048
database_cross_reference: ICD10CM:P24.01
database_cross_reference: MESH:D008471
database_cross_reference: SNOMEDCT_US_2020_03_01:85779008
database_cross_reference: GARD:10494
definition: A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.
has_exact_synonym: Neonatal aspiration of meconium
has_obo_namespace: disease_ontology
has_exact_synonym: meconium aspiration
in_subset: NCIthesaurus
imported from: doid.owl

urinary bladder cancer
type: Class
subclass of: bladder disease
subclass of: urinary system cancer
database_cross_reference: ICD10CM:C67
database_cross_reference: ICD9CM:188
database_cross_reference: MESH:D001749
definition: An urinary system cancer that results_in malignant growth located_in the urinary bladder.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0005695
database_cross_reference: SNOMEDCT_US_2020_03_01:126885006
database_cross_reference: SNOMEDCT_US_2020_03_01:363455001
has_obo_namespace: disease_ontology
database_cross_reference: GARD:12210
database_cross_reference: KEGG:05219
database_cross_reference: NCI:C2901
id: DOID:11054
database_cross_reference: OMIM:109800
database_cross_reference: UMLS_CUI:C0005684
has_alternative_id: DOID:5428
database_cross_reference: NCI:C9334
has_exact_synonym: bladder cancer
has_exact_synonym: tumor of the bladder
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

pasteurellosis
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: ICD10CM:A28.0
id: DOID:11055
database_cross_reference: UMLS_CUI:C0030636
database_cross_reference: ICD9CM:027.2
definition: A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia.
database_cross_reference: MESH:D010326
database_cross_reference: SNOMEDCT_US_2020_03_01:276199008
has_exact_synonym: Pasteurella infection
has_exact_synonym: Pasteurella infectious disease
has_obo_namespace: disease_ontology
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

placenta praevia
type: Class
subclass of: placenta disease
id: DOID:11060
database_cross_reference: UMLS_CUI:C0032046
database_cross_reference: SNOMEDCT_US_2020_03_01:157059004
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:O44
database_cross_reference: NCI:C26858
database_cross_reference: MESH:D010923
definition: A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
in_subset: NCIthesaurus
imported from: doid.owl

esophageal carcinoma
type: Class
subclass of: carcinoma
subclass of: esophageal cancer
database_cross_reference: EFO:0002916
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0152018
database_cross_reference: NCI:C3513
id: DOID:1107
database_cross_reference: SNOMEDCT_US_2020_03_01:255079005
definition: A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has_exact_synonym: cancer of esophagus
has_exact_synonym: cancer of oesophagus
has_exact_synonym: carcinoma OF ESOPHAGUS
has_exact_synonym: carcinoma of esophagus
has_exact_synonym: carcinoma of oesophagus
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

brucellosis
type: Class
subclass of: primary bacterial infectious disease
id: DOID:11077
has_alternative_id: DOID:0050060
database_cross_reference: SNOMEDCT_US_2020_03_01:154296006
database_cross_reference: ICD9CM:023
database_cross_reference: MESH:D002006
definition: A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
database_cross_reference: GARD:5966
database_cross_reference: NCI:C84602
database_cross_reference: UMLS_CUI:C0006309
has_related_synonym: Bang's disease
has_related_synonym: Gibraltar fever
database_cross_reference: ICD10CM:A23
has_related_synonym: Malta fever
has_exact_synonym: Maltese fever
has_related_synonym: Mediterranean fever
has_obo_namespace: disease_ontology
has_exact_synonym: undulant fever
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

myiasis
type: Class
subclass of: parasitic ectoparasitic infectious disease
database_cross_reference: ICD9CM:134.0
database_cross_reference: SNOMEDCT_US_2020_03_01:266225001
database_cross_reference: ICD10CM:B87
definition: A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
id: DOID:11080
has_exact_synonym: Infestation by fly larvae
has_exact_synonym: Infestation by maggots
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027030
database_cross_reference: MESH:D009198
has_exact_synonym: Maggot infestation
database_cross_reference: NCI:C128400
in_subset: NCIthesaurus
imported from: doid.owl

chorioretinal scar
type: Class
subclass of: retinal disease
database_cross_reference: ICD9CM:363.3
database_cross_reference: SNOMEDCT_US_2020_03_01:53854005
id: DOID:11086
database_cross_reference: UMLS_CUI:C0008512
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H31.0
imported from: doid.owl

asphyxia neonatorum
type: Class
subclass of: respiratory system disease
definition: A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.
database_cross_reference: ICD10CM:P84
id: DOID:11088
has_exact_synonym: Asphyxia - birth
database_cross_reference: GARD:5857
database_cross_reference: ICD9CM:768.9
has_exact_synonym: Asphyxia, in liveborn infant
has_exact_synonym: Birth asphyxia
database_cross_reference: UMLS_CUI:C0004045
database_cross_reference: SNOMEDCT_US_2020_03_01:413654009
database_cross_reference: MESH:D001238
has_obo_namespace: disease_ontology
has_exact_synonym: postnatal asphyxia
imported from: doid.owl

Q fever
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:266205000
database_cross_reference: GARD:7515
database_cross_reference: ICD10CM:A78
has_obo_namespace: disease_ontology
id: DOID:11100
database_cross_reference: UMLS_CUI:C0034362
database_cross_reference: NCI:C34970
definition: A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.
database_cross_reference: MESH:D011778
database_cross_reference: ICD9CM:083.0
has_exact_synonym: Infection due to Coxiella burnetii
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

trench fever
type: Class
subclass of: bartonellosis
id: DOID:11101
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:083.1
database_cross_reference: MESH:D014205
database_cross_reference: UMLS_CUI:C0040830
definition: A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back.
database_cross_reference: SNOMEDCT_US_2020_03_01:82214002
database_cross_reference: ICD10CM:A79.0
has_exact_synonym: His-Werner disease
has_exact_synonym: Quintan fever
has_exact_synonym: Wolhynian fever
has_exact_synonym: shin bone fever
has_exact_synonym: tibialgic fever
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

bartonellosis
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: UMLS_CUI:C0004771
database_cross_reference: ICD9CM:088.0
id: DOID:11102
has_exact_synonym: Bartonella infectious disease
database_cross_reference: ICD10CM:A44
database_cross_reference: MESH:D001474
definition: A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
has_exact_synonym: Rochalimaea infection
database_cross_reference: SNOMEDCT_US_2020_03_01:17116008
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84586
has_exact_synonym: bartonelliasis
in_subset: GOLD
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

spotted fever
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: GARD:4998
database_cross_reference: UMLS_CUI:C0038041
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A77.9
id: DOID:11104
database_cross_reference: ICD9CM:082.0
definition: A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite.
database_cross_reference: MESH:D000073605
database_cross_reference: SNOMEDCT_US_2020_03_01:186771002
has_exact_synonym: Spotted fever group rickettsial disease
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

fundus albipunctatus
type: Class
subclass of: fundus dystrophy
definition: A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.
database_cross_reference: UMLS_CUI:C0311338
database_cross_reference: SNOMEDCT_US_2020_03_01:68222009
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:136880
id: DOID:11105
database_cross_reference: MESH:C562733
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Pigmentary retinal dystrophy
has_exact_synonym: retinitis punctata albescens
imported from: doid.owl

hydronephrosis
type: Class
subclass of: urinary tract obstruction
database_cross_reference: SNOMEDCT_US_2020_03_01:155866001
database_cross_reference: MESH:D006869
database_cross_reference: NCI:C26796
has_obo_namespace: disease_ontology
id: DOID:11111
database_cross_reference: ICD9CM:591
database_cross_reference: UMLS_CUI:C0020295
database_cross_reference: ICD10CM:N13.30
in_subset: NCIthesaurus
imported from: doid.owl

Gilles de la Tourette syndrome
type: Class
subclass of: tic disorder
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0040517
database_cross_reference: GARD:7783
database_cross_reference: ICD9CM:307.23
database_cross_reference: MESH:D005879
database_cross_reference: SNOMEDCT_US_2020_03_01:5158005
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35078
database_cross_reference: ICD10CM:F95.2
id: DOID:11119
database_cross_reference: EFO:0004895
definition: A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
has_exact_synonym: Guinon's disease
database_cross_reference: OMIM:137580
has_exact_synonym: Psychogenic tics
has_exact_synonym: Tourette syndrome
has_exact_synonym: motor-verbal tic disorder
in_subset: NCIthesaurus
imported from: doid.owl

pulpitis
type: Class
subclass of: dental pulp disease
database_cross_reference: SNOMEDCT_US_2020_03_01:155638006
database_cross_reference: ICD9CM:522.0
database_cross_reference: ICD10CM:K04.0
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C52595
database_cross_reference: MESH:D011671
id: DOID:11121
database_cross_reference: UMLS_CUI:C0034103
in_subset: NCIthesaurus
imported from: doid.owl

Henoch-Schoenlein purpura
type: Class
subclass of: hypersensitivity vasculitis
definition: A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.
has_obo_namespace: disease_ontology
id: DOID:11123
database_cross_reference: ICD9CM:287.0
has_exact_synonym: Autoimmune purpura
database_cross_reference: MESH:D011695
database_cross_reference: GARD:8204
has_exact_synonym: Henoch-Sch@nlein purpura
has_exact_synonym: Henoch-Scholein purpura
has_exact_synonym: Henoch-Schonlein Purpura
database_cross_reference: ICD10CM:D69.0
database_cross_reference: NCI:C34963
has_exact_synonym: Purpura, autoimmune
database_cross_reference: UMLS_CUI:C0034152
database_cross_reference: SNOMEDCT_US_2020_03_01:191306005
has_exact_synonym: Allergic purpura
has_exact_synonym: Henoch-Sch?nlein purpura
in_subset: NCIthesaurus
imported from: doid.owl

prostatic hypertrophy
type: Class
subclass of: prostate disease
id: DOID:11132
has_obo_namespace: disease_ontology
imported from: doid.owl

sarcoma
type: Class
subclass of: cell type cancer
definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
database_cross_reference: ICD10CM:C49
database_cross_reference: UMLS_CUI:C0153519
database_cross_reference: ICD9CM:171.9
has_alternative_id: DOID:3936
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:93765001
id: DOID:1115
has_exact_synonym: connective and soft tissue neoplasm
has_exact_synonym: tumor of soft tissue and skeleton
in_subset: DO cancer slim
in_subset: TopNodes DOcancerslim
imported from: doid.owl

cholecystolithiasis
type: Class
subclass of: gallbladder disease
database_cross_reference: UMLS_CUI:C0947622
id: DOID:11151
database_cross_reference: NCI:C34443
database_cross_reference: MESH:D041761
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:235919008
in_subset: NCIthesaurus
imported from: doid.owl

miliaria rubra
type: Class
subclass of: miliaria
database_cross_reference: SNOMEDCT_US_2020_03_01:44279002
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D008883
database_cross_reference: UMLS_CUI:C0162423
definition: A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction.
id: DOID:11153
database_cross_reference: ICD10CM:L74.0
database_cross_reference: ICD9CM:705.1
has_exact_synonym: prickly heat
imported from: doid.owl

hypohidrosis
type: Class
subclass of: sweat gland disease
database_cross_reference: MESH:D007007
database_cross_reference: NCI:C34718
definition: A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands.
id: DOID:11155
has_exact_synonym: Hypohidrosis
database_cross_reference: SNOMEDCT_US_2020_03_01:201189007
database_cross_reference: ICD10CM:L74.4
has_exact_synonym: Oligohidrosis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0020620
in_subset: NCIthesaurus
imported from: doid.owl

anhidrosis
type: Class
subclass of: hypohidrosis
database_cross_reference: SNOMEDCT_US_2020_03_01:201189007
id: DOID:11156
database_cross_reference: MESH:D007007
database_cross_reference: OMIM:206600
definition: A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.
database_cross_reference: ICD10CM:L74.4
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0003028
database_cross_reference: ICD9CM:705.0
has_exact_synonym: Adiaphoresis
database_cross_reference: NCI:C34385
has_exact_synonym: absence of sweating
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

pertussis
type: Class
subclass of: commensal bacterial infectious disease
id: DOID:1116
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D001885
definition: A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
database_cross_reference: UMLS_CUI:C0006015
database_cross_reference: SNOMEDCT_US_2020_03_01:26484003
has_alternative_id: DOID:11333
has_alternative_id: DOID:11751
database_cross_reference: KEGG:05133
has_exact_synonym: WC - Whooping cough
has_exact_synonym: bordetella infection
has_exact_synonym: whooping cough
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

respiratory failure
type: Class
subclass of: lung disease
database_cross_reference: ICD9CM:518.81
id: DOID:11162
database_cross_reference: NCI:C27043
definition: A lung disease characterized by inadequate gas exchange by the respiratory system.
database_cross_reference: SNOMEDCT_US_2020_03_01:65710008
database_cross_reference: UMLS_CUI:C0264490
database_cross_reference: ICD10CM:J96.0
has_obo_namespace: disease_ontology
has_alternative_id: DOID:11393
has_alternative_id: DOID:11392
has_alternative_id: DOID:11391
has_exact_synonym: acute and chronic respiratory failure
has_exact_synonym: acute respiratory Failure
has_exact_synonym: acute-on-chronic respiratory failure
has_exact_synonym: chronic respiratory failure
has_exact_synonym: respiratory insufficiency/failure
in_subset: NCIthesaurus
imported from: doid.owl

band keratopathy
type: Class
subclass of: corneal degeneration
database_cross_reference: UMLS_CUI:C0155120
database_cross_reference: NCI:C118765
database_cross_reference: MESH:C562399
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:217500
database_cross_reference: ICD10CM:H18.42
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:11164
has_exact_synonym: Band-shaped keratopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:35055000
database_cross_reference: ICD9CM:371.43
in_subset: NCIthesaurus
imported from: doid.owl

common wart
type: Class
subclass of: viral infectious disease
definition: A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body.
database_cross_reference: NCI:C27087
database_cross_reference: ICD10CM:B07.8
database_cross_reference: ICD9CM:078.1
database_cross_reference: UMLS_CUI:C0043037
id: DOID:11165
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:57019003
in_subset: NCIthesaurus
imported from: doid.owl

anogenital venereal wart
type: Class
subclass of: herpangina
subclass of: vaginal disease
subclass of: penile disease
subclass of: cervix disease
subclass of: anus disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D003218
has_related_synonym: Condyloma acuminatum
database_cross_reference: UMLS_CUI:C0009663
database_cross_reference: SNOMEDCT_US_2020_03_01:302812006
database_cross_reference: ICD9CM:078.11
id: DOID:11168
has_alternative_id: DOID:7877
database_cross_reference: ICD10CM:A63.0
definition: A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.
has_exact_synonym: Anogenital Human papilloma Virus Infectious Disease
has_exact_synonym: Anogenital warts
has_exact_synonym: Genital warts
database_cross_reference: NCI:C2960
database_cross_reference: UMLS_CUI:C0554632
database_cross_reference: NCI:C4820
database_cross_reference: SNOMEDCT_US_2020_03_01:240542006
has_exact_synonym: genital wart virus infectious disease
has_exact_synonym: venereal wart
in_subset: NCIthesaurus
in_subset: sexually transmitted infectious disease
imported from: doid.owl

enophthalmos
type: Class
subclass of: orbital disease
database_cross_reference: MESH:D015841
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:376.5
database_cross_reference: NCI:C79552
id: DOID:11175
database_cross_reference: ICD10CM:H05.4
database_cross_reference: SNOMEDCT_US_2020_03_01:267746003
database_cross_reference: UMLS_CUI:C0014306
in_subset: NCIthesaurus
imported from: doid.owl

non-suppurative otitis media
type: Class
subclass of: otitis media
definition: A otitis media which involves transudation of fluid in the middle ear without pus formation.
database_cross_reference: ICD10CM:H65
database_cross_reference: SNOMEDCT_US_2020_03_01:275481002
database_cross_reference: UMLS_CUI:C0271446
database_cross_reference: ICD9CM:381.4
id: DOID:11180
has_exact_synonym: Nonsuppurative otitis media
has_obo_namespace: disease_ontology
imported from: doid.owl

acute conjunctivitis
type: Class
subclass of: conjunctivitis
database_cross_reference: ICD9CM:372.03
id: DOID:11184
database_cross_reference: UMLS_CUI:C0029668
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H10.02
imported from: doid.owl

syndactyly
type: Class
subclass of: chromosomal duplication syndrome
subclass of: synostosis
database_cross_reference: UMLS_CUI:C0039075
database_cross_reference: GARD:13181
database_cross_reference: ORDO:90025
database_cross_reference: NCI:C87125
comment: Xref MGI.
database_cross_reference: ICD9CM:755.1
id: DOID:11193
database_cross_reference: ICD10CM:Q70
database_cross_reference: ORDO:295012
database_cross_reference: MESH:D013576
database_cross_reference: ORDO:93403
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:156989004
definition: A synostosis that results_in the fusion of two or more digits.
has_exact_synonym: chromosome 2q35 duplication syndrome
has_exact_synonym: symphalangism
has_exact_synonym: symphalangy
has_exact_synonym: webbing of digits
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

DiGeorge syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: syndrome
database_cross_reference: MESH:D004062
has_exact_synonym: 22q11.2 deletion syndrome
has_exact_synonym: DiGeorge sequence
database_cross_reference: NCI:C2989
database_cross_reference: ICD9CM:279.11
database_cross_reference: UMLS_CUI:C0012236
database_cross_reference: SNOMEDCT_US_2020_03_01:77128003
database_cross_reference: GARD:10299
has_obo_namespace: disease_ontology
id: DOID:11198
definition: A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
database_cross_reference: ICD10CM:D82.1
has_exact_synonym: DiGeorge's syndrome
database_cross_reference: OMIM:188400
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Pharyngeal pouch syndrome
in_subset: NCIthesaurus
imported from: doid.owl

hypoparathyroidism
type: Class
subclass of: parathyroid gland disease
database_cross_reference: UMLS_CUI:C0020626
database_cross_reference: GARD:6733
database_cross_reference: MESH:D007011
database_cross_reference: ICD10CM:E20
database_cross_reference: OMIM:307700
database_cross_reference: ORDO:2238
database_cross_reference: NCI:C78350
id: DOID:11199
comment: Xref MGI.
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:252.1
database_cross_reference: OMIM:146200
database_cross_reference: SNOMEDCT_US_2020_03_01:154697005
definition: A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

esophageal varix
type: Class
subclass of: esophageal disease
subclass of: vein disease
database_cross_reference: SNOMEDCT_US_2020_03_01:195475003
database_cross_reference: SNOMEDCT_US_2020_03_01:195643006
database_cross_reference: UMLS_CUI:C0155791
database_cross_reference: ICD9CM:456.20
database_cross_reference: ICD10CM:I85.01
database_cross_reference: UMLS_CUI:C0155792
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:456.0
has_exact_synonym: Bleeding oesophageal varices
has_alternative_id: DOID:13536
database_cross_reference: ICD9CM:456.2
database_cross_reference: UMLS_CUI:C0155789
database_cross_reference: SNOMEDCT_US_2020_03_01:236067006
database_cross_reference: GARD:6384
database_cross_reference: NCI:C78282
has_exact_synonym: Bleeding esophageal varices
id: DOID:112
has_alternative_id: DOID:111
has_alternative_id: DOID:14031
has_exact_synonym: esophageal varices
has_exact_synonym: esophageal varices in disease classified elsewhere, with bleeding
has_exact_synonym: esophageal varices with bleeding
has_exact_synonym: esophageal varices with bleeding in disease EC
has_exact_synonym: esophageal varices without bleeding
has_exact_synonym: esophageal varices without mention of bleeding
in_subset: NCIthesaurus
imported from: doid.owl

T cell deficiency
type: Class
subclass of: primary immunodeficiency disease
has_alternative_id: DOID:613
definition: A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells.
database_cross_reference: UMLS_CUI:C1274233
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1333147
id: DOID:11200
database_cross_reference: SNOMEDCT_US_2020_03_01:402792003
database_cross_reference: NCI:C27145
database_cross_reference: NCI:C27872
has_exact_synonym: T cell immunodeficiency
has_exact_synonym: T lymphocyte deficiency
has_exact_synonym: T lymphocyte immunodeficiency
in_subset: NCIthesaurus
imported from: doid.owl

parathyroid gland disease
type: Class
subclass of: endocrine system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:73132005
database_cross_reference: ICD10CM:E21.5
database_cross_reference: ICD9CM:252.9
database_cross_reference: UMLS_CUI:C0030517
id: DOID:11201
database_cross_reference: MESH:D010279
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26844
definition: An endocrine system disease that is located_in the parathyroid gland.
has_exact_synonym: disease of parathyroid glands
in_subset: NCIthesaurus
imported from: doid.owl

allergic conjunctivitis
type: Class
subclass of: allergic disease
subclass of: chronic conjunctivitis
has_obo_namespace: disease_ontology
definition: A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.
database_cross_reference: SNOMEDCT_US_2020_03_01:231854006
database_cross_reference: MESH:D003233
id: DOID:11204
database_cross_reference: UMLS_CUI:C0009766
database_cross_reference: NCI:C34506
in_subset: NCIthesaurus
imported from: doid.owl

opioid abuse
type: Class
subclass of: substance abuse
database_cross_reference: ICD9CM:305.5
definition: A substance abuse that involves the recurring use of opioid drugs despite negative consequences.
database_cross_reference: MESH:D009293
database_cross_reference: UMLS_CUI:C0029095
id: DOID:11206
database_cross_reference: ICD10CM:F11.1
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:5602001
imported from: doid.owl

acute hemorrhagic conjunctivitis
type: Class
subclass of: conjunctival disease
subclass of: viral infectious disease
database_cross_reference: NCI:C34505
database_cross_reference: UMLS_CUI:C0009765
definition: A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis.
database_cross_reference: ICD9CM:077.4
database_cross_reference: SNOMEDCT_US_2020_03_01:186677009
has_obo_namespace: disease_ontology
id: DOID:11227
has_exact_synonym: Apollo disease
has_exact_synonym: Epidemic hemorrhagic conjunctivitis
database_cross_reference: MESH:D003232
has_related_synonym: viral conjunctivitis
in_subset: NCIthesaurus
imported from: doid.owl

acute orbital inflammation
type: Class
subclass of: orbital disease
database_cross_reference: ICD10CM:H05.0
database_cross_reference: SNOMEDCT_US_2020_03_01:20551005
database_cross_reference: ICD9CM:376.0
id: DOID:11230
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155256
has_exact_synonym: acute inflammation of orbit
imported from: doid.owl

orbital cellulitis
type: Class
subclass of: acute orbital inflammation
database_cross_reference: NCI:C99000
definition: An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision.
database_cross_reference: SNOMEDCT_US_2020_03_01:194005002
database_cross_reference: ICD9CM:376.01
database_cross_reference: UMLS_CUI:C0149507
id: DOID:11234
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H05.01
database_cross_reference: MESH:D054517
in_subset: NCIthesaurus
imported from: doid.owl

appendix cancer
type: Class
subclass of: intestinal cancer
subclass of: appendix disease
database_cross_reference: NCI:C9333
database_cross_reference: ICD9CM:153.5
database_cross_reference: MESH:D001063
database_cross_reference: SNOMEDCT_US_2020_03_01:93679002
database_cross_reference: ICD10CM:C18.1
definition: A intestinal cancer that is located_in the appendix.
id: DOID:11239
database_cross_reference: UMLS_CUI:C0496779
has_exact_synonym: cancer of the appendix
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of appendix vermiformis
has_exact_synonym: malignant tumor of appendix
has_exact_synonym: malignant tumor of the appendix
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

appendiceal neoplasm
type: Class
subclass of: intestinal benign neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:126846004
id: DOID:11240
database_cross_reference: NCI:C4434
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0003614
database_cross_reference: MESH:D001063
has_exact_synonym: appendix neoplasm
has_exact_synonym: neoplasm of appendix
in_subset: NCIthesaurus
imported from: doid.owl

neonatal anemia
type: Class
subclass of: anemia
database_cross_reference: UMLS_CUI:C0002891
database_cross_reference: SNOMEDCT_US_2020_03_01:111468003
id: DOID:11244
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000751
has_exact_synonym: anaemia neonatal
has_exact_synonym: anemia neonatal
has_exact_synonym: neonatal anaemia
imported from: doid.owl

disseminated intravascular coagulation
type: Class
subclass of: thrombophilia
has_exact_synonym: Diffuse or disseminated intravascular coagulation
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2992
database_cross_reference: UMLS_CUI:C0012739
database_cross_reference: MESH:D004211
has_exact_synonym: DIC
has_exact_synonym: Defibrination syndrome
database_cross_reference: ICD10CM:D65
database_cross_reference: ICD9CM:286.6
id: DOID:11247
database_cross_reference: SNOMEDCT_US_2020_03_01:67406007
in_subset: NCIthesaurus
imported from: doid.owl

vitamin K deficiency bleeding
type: Class
subclass of: nutritional deficiency disease
database_cross_reference: MESH:D014813
database_cross_reference: SNOMEDCT_US_2020_03_01:52675005
id: DOID:11249
database_cross_reference: UMLS_CUI:C0042880
database_cross_reference: ICD9CM:269.0
database_cross_reference: ICD10CM:E56.1
has_obo_namespace: disease_ontology
definition: A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmillk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications.
database_cross_reference: NCI:C99108
has_exact_synonym: deficiency of vitamin K
has_exact_synonym: vitamin K deficiency
has_exact_synonym: vitamin K deficiency hemorrhagic disease
in_subset: NCIthesaurus
imported from: doid.owl

typhus
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0041472
database_cross_reference: UMLS_CUI:C0041473
database_cross_reference: UMLS_CUI:C0041471
has_related_synonym: Classical typhus
database_cross_reference: MESH:D014438
database_cross_reference: GARD:7833
database_cross_reference: MESH:D014437
database_cross_reference: ICD9CM:081.0
database_cross_reference: ICD10CM:A75.9
database_cross_reference: ICD9CM:081.9
database_cross_reference: ICD10CM:A75.2
database_cross_reference: ICD10CM:A75.0
database_cross_reference: NCI:C84688
database_cross_reference: ICD9CM:080
database_cross_reference: NCI:C84689
id: DOID:11256
has_alternative_id: DOID:12353
database_cross_reference: SNOMEDCT_US_2020_03_01:154375001
has_alternative_id: DOID:11255
has_exact_synonym: Endemic Typhus fever
has_related_synonym: Epidemic (louse-borne) typhus
has_related_synonym: Epidemic louse-borne typhus fever due to Rickettsia prowazekii
has_related_synonym: European typhus
has_exact_synonym: Exanthematic Typhus fever
has_related_synonym: Exanthematous typhus
has_related_synonym: Famine fever
has_exact_synonym: Flea typhus
has_related_synonym: Flea-borne rickettsiosis
has_related_synonym: Flea-borne typhus
has_related_synonym: Hospital fever
has_related_synonym: Jail fever
has_exact_synonym: Louse-borne [epidemic] typhus
has_related_synonym: Louse-borne rickettsiosis
has_related_synonym: Louse-borne typhus
has_related_synonym: Mexican typhus
has_exact_synonym: Moscow typhus
has_exact_synonym: Murine [endemic] typhus
has_related_synonym: Murine typhus
has_related_synonym: Petechial fever
has_related_synonym: Prison fever
has_related_synonym: Rat flea typhus
database_cross_reference: SNOMEDCT_US_2020_03_01:25668000
database_cross_reference: SNOMEDCT_US_2020_03_01:39111003
has_related_synonym: Ship fever
has_related_synonym: Shop typhus
has_related_synonym: Typhus exanthematique
has_exact_synonym: Typhus fever
has_related_synonym: Urban typhus
has_exact_synonym: endemic flea-borne typhus
has_exact_synonym: epidemic louse-borne typhus
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

cat-scratch disease
type: Class
subclass of: bartonellosis
subclass of: lymph node disease
database_cross_reference: ICD10CM:A28.1
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002372
database_cross_reference: NCI:C84620
database_cross_reference: ICD9CM:078.3
database_cross_reference: UMLS_CUI:C0007361
id: DOID:11258
definition: A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain.
database_cross_reference: SNOMEDCT_US_2020_03_01:123319006
has_exact_synonym: Debre's Syndrome
has_exact_synonym: Debre-Mollaret Syndrome
has_exact_synonym: Foshay-Mollaret Cat Scratch Fever
has_exact_synonym: benign lymphoreticulosis
has_exact_synonym: cat scratch fever
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

rabies
type: Class
subclass of: viral infectious disease
has_obo_namespace: disease_ontology
id: DOID:11260
database_cross_reference: SNOMEDCT_US_2020_03_01:14168008
database_cross_reference: MESH:D011818
definition: A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis.
database_cross_reference: ICD10CM:A82
database_cross_reference: NCI:C28182
database_cross_reference: ICD9CM:071
database_cross_reference: UMLS_CUI:C0034494
database_cross_reference: GARD:7516
has_exact_synonym: Lyssa
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

ornithosis
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: NCI:C34873
database_cross_reference: ICD9CM:073
database_cross_reference: UMLS_CUI:C0029291
definition: A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia.
id: DOID:11262
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:154369005
database_cross_reference: MESH:D009956
database_cross_reference: ICD10CM:A70
has_exact_synonym: psittacosis
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

trachoma
type: Class
subclass of: commensal bacterial infectious disease
subclass of: eye disease
has_alternative_id: DOID:13264
id: DOID:11265
database_cross_reference: SNOMEDCT_US_2020_03_01:154367007
database_cross_reference: UMLS_CUI:C0040592
database_cross_reference: SNOMEDCT_US_2020_03_01:29976007
database_cross_reference: UMLS_CUI:C0153107
database_cross_reference: ICD10CM:A71
database_cross_reference: UMLS_CUI:C0153108
database_cross_reference: ICD10CM:A71.0
database_cross_reference: ICD10CM:A71.1
database_cross_reference: ICD9CM:076
has_obo_namespace: disease_ontology
has_alternative_id: DOID:13013
database_cross_reference: MESH:D014141
database_cross_reference: ICD9CM:076.0
database_cross_reference: ICD9CM:076.1
database_cross_reference: SNOMEDCT_US_2020_03_01:52812002
definition: A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.
database_cross_reference: GARD:10374
has_exact_synonym: active stage trachoma
has_exact_synonym: trachoma dubium
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

Hantavirus hemorrhagic fever with renal syndrome
type: Class
subclass of: kidney disease
subclass of: viral infectious disease
definition: A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade orthohantavirus has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom hemorrhagic features, has symptom proteinuria, and has symptom renal failure.
database_cross_reference: MESH:D006480
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A98.5
id: DOID:11266
has_exact_synonym: HFRS
has_exact_synonym: Hemorrhagic fever, Russian
database_cross_reference: NCI:C84753
database_cross_reference: ICD9CM:078.6
has_exact_synonym: Hemorrhagic nephrosonephritis
has_exact_synonym: Puumala virus nephropathy
database_cross_reference: UMLS_CUI:C0019101
database_cross_reference: SNOMEDCT_US_2020_03_01:186701001
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

keratomalacia
type: Class
subclass of: corneal degeneration
database_cross_reference: UMLS_CUI:C0152455
database_cross_reference: ICD10CM:H18.44
database_cross_reference: SNOMEDCT_US_2020_03_01:85149007
database_cross_reference: ICD9CM:371.45
database_cross_reference: GARD:6825
id: DOID:11267
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C536156
imported from: doid.owl

chronic apical periodontitis
type: Class
subclass of: periapical periodontitis
database_cross_reference: SNOMEDCT_US_2020_03_01:718052004
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:522.6
database_cross_reference: ICD10CM:K04.5
id: DOID:11269
database_cross_reference: UMLS_CUI:C0392492
imported from: doid.owl

Plummer's disease
type: Class
subclass of: hyperthyroidism
database_cross_reference: UMLS_CUI:C0342127
has_obo_namespace: disease_ontology
id: DOID:11277
database_cross_reference: ICD9CM:242.3
database_cross_reference: SNOMEDCT_US_2020_03_01:57777000
database_cross_reference: NCI:C35171
database_cross_reference: ICD10CM:E05.2
has_exact_synonym: Plummer disease
has_exact_synonym: Toxic nodular Goiter
has_exact_synonym: Toxic nodular goiter
in_subset: NCIthesaurus
imported from: doid.owl

pituitary apoplexy
type: Class
subclass of: pituitary infarct
database_cross_reference: MESH:D010899
id: DOID:1129
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0032001
database_cross_reference: NCI:C26853
has_exact_synonym: Pituitary apoplexy
database_cross_reference: SNOMEDCT_US_2020_03_01:237701005
in_subset: NCIthesaurus
imported from: doid.owl

arteriovenous malformation
type: Class
subclass of: hemangioma
database_cross_reference: SNOMEDCT_US_2020_03_01:403966009
id: DOID:11294
has_exact_synonym: Cirsoid aneurysm
database_cross_reference: NCI:C2882
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0334533
definition: A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
has_exact_synonym: Arteriovenous hemangioma
database_cross_reference: ICD10CM:I77.0
has_exact_synonym: Racemose Angioma
has_exact_synonym: Racemose aneurysm
has_exact_synonym: Racemose hemangioma
in_subset: NCIthesaurus
imported from: doid.owl

pituitary infarct
type: Class
subclass of: necrosis of pituitary
id: DOID:1130
database_cross_reference: NCI:C27117
database_cross_reference: UMLS_CUI:C0342405
has_exact_synonym: Pituitary infarction
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:95830009
in_subset: NCIthesaurus
imported from: doid.owl

cercarial dermatitis
type: Class
subclass of: schistosomiasis
subclass of: skin disease
database_cross_reference: UMLS_CUI:C0546996
database_cross_reference: ICD9CM:120.3
database_cross_reference: ICD10CM:B65.3
database_cross_reference: GARD:9747
id: DOID:11302
database_cross_reference: NCI:C34457
has_exact_synonym: Sea bather's eruption
has_obo_namespace: disease_ontology
definition: A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection.
has_exact_synonym: Cutaneous schistosomiasis
database_cross_reference: SNOMEDCT_US_2020_03_01:187115002
in_subset: NCIthesaurus
imported from: doid.owl

Kyasanur forest disease
type: Class
subclass of: viral infectious disease
database_cross_reference: UMLS_CUI:C0022810
database_cross_reference: GARD:8257
database_cross_reference: SNOMEDCT_US_2020_03_01:23097003
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems.
database_cross_reference: MESH:D007733
has_obo_namespace: disease_ontology
id: DOID:11320
database_cross_reference: ICD10CM:A98.2
database_cross_reference: ICD9CM:065.2
in_subset: tick-borne infectious disease
imported from: doid.owl

erysipelas
type: Class
subclass of: dermatitis
database_cross_reference: GARD:6370
id: DOID:11330
database_cross_reference: UMLS_CUI:C0014733
database_cross_reference: SNOMEDCT_US_2020_03_01:266005008
database_cross_reference: MESH:D004886
database_cross_reference: ICD9CM:035
database_cross_reference: ICD10CM:A46
has_obo_namespace: disease_ontology
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

sarcoidosis
type: Class
subclass of: hypersensitivity reaction type IV disease
database_cross_reference: NCI:C34995
database_cross_reference: ORDO:797
definition: A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
database_cross_reference: MESH:D012507
database_cross_reference: SNOMEDCT_US_2020_03_01:154425004
id: DOID:11335
database_cross_reference: ICD9CM:135
database_cross_reference: GARD:7607
database_cross_reference: UMLS_CUI:C0036202
database_cross_reference: ICD10CM:D86
has_obo_namespace: disease_ontology
has_exact_synonym: Boeck sarcoid
has_exact_synonym: lymphogranulomatosis
in_subset: NCIthesaurus
imported from: doid.owl

rhinoscleroma
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:72409005
database_cross_reference: MESH:D012226
has_obo_namespace: disease_ontology
id: DOID:11336
database_cross_reference: ICD9CM:040.1
database_cross_reference: UMLS_CUI:C0035468
definition: A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis.
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

tetanus
type: Class
subclass of: primary bacterial infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0039614
definition: A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.
database_cross_reference: NCI:C85185
database_cross_reference: ICD10CM:A35
database_cross_reference: GARD:5144
database_cross_reference: SNOMEDCT_US_2020_03_01:154312006
database_cross_reference: ICD9CM:037
database_cross_reference: MESH:D013742
id: DOID:11338
has_exact_synonym: Infection due to Clostridium tetani
has_exact_synonym: clostridial tetanus
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

pneumocystosis
type: Class
subclass of: opportunistic mycosis
subclass of: lung disease
id: DOID:11339
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1535939
database_cross_reference: GARD:4386
database_cross_reference: SNOMEDCT_US_2020_03_01:57541005
definition: An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.
database_cross_reference: MESH:D011020
database_cross_reference: ICD10CM:B59
database_cross_reference: NCI:C3334
database_cross_reference: ICD9CM:136.3
has_exact_synonym: Pneumocystis carinii pneumonia
has_exact_synonym: Pneumocystis jirovecii pneumonia
has_exact_synonym: Pneumocystis pneumonia
has_exact_synonym: Pneumocystosis
has_exact_synonym: Pneumocystosis pneumonia
has_exact_synonym: pulmonary pneumocystosis
in_subset: NCIthesaurus
imported from: doid.owl

gingival recession
type: Class
subclass of: gingival disease
has_alternative_id: DOID:2405
has_alternative_id: DOID:13280
database_cross_reference: MESH:D005889
id: DOID:1134
database_cross_reference: UMLS_CUI:C0017572
has_alternative_id: DOID:1133
database_cross_reference: SNOMEDCT_US_2020_03_01:155645006
database_cross_reference: ICD9CM:523.24
has_exact_synonym: Gingival recession
database_cross_reference: UMLS_CUI:C0266916
database_cross_reference: ICD9CM:523.2
database_cross_reference: ICD10CM:K06.01
database_cross_reference: SNOMEDCT_US_2020_03_01:59898000
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C82068
database_cross_reference: ICD10CM:K06.0
has_alternative_id: DOID:13901
has_exact_synonym: Gingival recession, localized
has_exact_synonym: localized gingival recession
has_exact_synonym: minimal gingival recession
has_exact_synonym: moderate gingival recession
has_exact_synonym: severe gingival recession
in_subset: NCIthesaurus
imported from: doid.owl

scleral disease
type: Class
subclass of: eye disease
definition: An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.
database_cross_reference: SNOMEDCT_US_2020_03_01:33064008
database_cross_reference: MESH:D015422
database_cross_reference: NCI:C79717
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H15
id: DOID:11343
database_cross_reference: UMLS_CUI:C0036412
in_subset: NCIthesaurus
imported from: doid.owl

bladder diverticulum
type: Class
subclass of: bladder disease
database_cross_reference: OMIM:109820
database_cross_reference: ICD9CM:596.3
database_cross_reference: NCI:C160155
database_cross_reference: MESH:C562406
database_cross_reference: UMLS_CUI:C0156273
database_cross_reference: SNOMEDCT_US_2020_03_01:268335001
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:N32.3
id: DOID:11353
has_exact_synonym: Diverticulum - bladder
has_exact_synonym: Diverticulum of bladder
has_obo_namespace: disease_ontology
imported from: doid.owl

Phlebotomus fever
type: Class
subclass of: viral infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:33670001
database_cross_reference: UMLS_CUI:C0030372
database_cross_reference: MESH:D010217
database_cross_reference: ICD10CM:A93.1
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:066.0
definition: A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia.
id: DOID:11360
has_exact_synonym: Sandfly fever
has_exact_synonym: Sandfly-borne arboviral fever
has_exact_synonym: Sandfly-borne bunyavirus fever
has_exact_synonym: Sandfly-borne phleboviral disease
has_exact_synonym: pappataci fever
in_subset: zoonotic infectious disease
imported from: doid.owl

lens subluxation
type: Class
subclass of: lens disease
database_cross_reference: SNOMEDCT_US_2020_03_01:155203002
database_cross_reference: UMLS_CUI:C0023316
database_cross_reference: ICD10CM:H27.11
database_cross_reference: MESH:D007906
id: DOID:11364
database_cross_reference: NCI:C34772
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:379.32
has_exact_synonym: Subluxation of lens
in_subset: NCIthesaurus
imported from: doid.owl

congenital aphakia
type: Class
subclass of: physical disorder
subclass of: lens disease
database_cross_reference: OMIM:610256
id: DOID:11367
database_cross_reference: NCI:C35172
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:35387008
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: APHAKIA, CONGENITAL PRIMARY
has_exact_synonym: Congenital absence of lens
database_cross_reference: ICD10CM:Q12.3
database_cross_reference: ICD9CM:743.35
database_cross_reference: UMLS_CUI:C0152422
in_subset: NCIthesaurus
imported from: doid.owl

megacolon
type: Class
subclass of: colonic disease
definition: A colonic disease that is characterized by an abnormal dilation of the colon.
id: DOID:11372
has_obo_namespace: disease_ontology
has_alternative_id: DOID:1771
has_exact_synonym: Dilatation of colon
database_cross_reference: SNOMEDCT_US_2020_03_01:33995003
database_cross_reference: NCI:C34810
database_cross_reference: MESH:D008531
database_cross_reference: UMLS_CUI:C0025160
database_cross_reference: ICD10CM:K59.39
in_subset: NCIthesaurus
imported from: doid.owl

gnathomiasis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: NCI:C128395
database_cross_reference: ICD10CM:B83.1
database_cross_reference: MESH:D058429
database_cross_reference: SNOMEDCT_US_2020_03_01:44086001
id: DOID:11379
database_cross_reference: ICD9CM:128.1
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9286
has_exact_synonym: Gnathostomiasis
has_exact_synonym: Infectious Disease by Gnathostoma
database_cross_reference: UMLS_CUI:C0018013
definition: A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis.
in_subset: NCIthesaurus
imported from: doid.owl

spinal meningioma
type: Class
subclass of: spinal canal and spinal cord meningioma
subclass of: meningioma
id: DOID:1138
has_obo_namespace: disease_ontology
database_cross_reference: GARD:10264
database_cross_reference: SNOMEDCT_US_2020_03_01:189167009
database_cross_reference: MESH:D008579
database_cross_reference: UMLS_CUI:C0347515
database_cross_reference: NCI:C6935
has_exact_synonym: Spinal Cord meningioma
has_exact_synonym: Spinal meningioma
in_subset: NCIthesaurus
imported from: doid.owl

cryptorchidism
type: Class
subclass of: disorder of sexual development
database_cross_reference: MESH:D003456
database_cross_reference: ICD10CM:Q53.9
has_exact_synonym: Cryptorchism
id: DOID:11383
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:219050
database_cross_reference: UMLS_CUI:C0010417
database_cross_reference: NCI:C12326
database_cross_reference: SNOMEDCT_US_2020_03_01:204879009
database_cross_reference: ICD9CM:752.51
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Undescended testicle
has_exact_synonym: Undescended testis
has_exact_synonym: undescended testicles
in_subset: NCIthesaurus
imported from: doid.owl

expressive language disorder
type: Class
subclass of: language disorder
database_cross_reference: UMLS_CUI:C0236826
database_cross_reference: ICD10CM:F80.1
id: DOID:11385
database_cross_reference: ICD9CM:315.31
database_cross_reference: SNOMEDCT_US_2020_03_01:80360005
definition: A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.
has_exact_synonym: Developmental expressive language disorder
database_cross_reference: NCI:C92562
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

epidural abscess
type: Class
subclass of: central nervous system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:310671007
definition: A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges).
has_obo_namespace: disease_ontology
id: DOID:11387
database_cross_reference: MESH:D020802
database_cross_reference: UMLS_CUI:C0270629
has_exact_synonym: abscess epidural
imported from: doid.owl

cerebral arteritis
type: Class
subclass of: cerebrovascular disease
database_cross_reference: UMLS_CUI:C0007773
database_cross_reference: SNOMEDCT_US_2020_03_01:28366008
has_exact_synonym: Cerebral arteritis
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:437.4
id: DOID:11390
imported from: doid.owl

adult respiratory distress syndrome
type: Class
subclass of: respiratory failure
database_cross_reference: ICD10CM:J80
database_cross_reference: UMLS_CUI:C0035222
database_cross_reference: GARD:5698
id: DOID:11394
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3353
has_exact_synonym: ARDS
has_exact_synonym: Non-cardiogenic pulmonary edema
has_exact_synonym: acute respiratory distress syndrome
comment: PRISM.
database_cross_reference: SNOMEDCT_US_2020_03_01:155627006
database_cross_reference: MESH:D012128
definition: A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.
has_exact_synonym: Shock lung
has_exact_synonym: adult RDS
in_subset: NCIthesaurus
imported from: doid.owl

heart disease
type: Class
subclass of: cardiovascular system disease
definition: A cardiovascular system disease that involves the heart.
database_cross_reference: MESH:D006331
id: DOID:114
database_cross_reference: NCI:C3079
database_cross_reference: ICD10CM:I51.9
database_cross_reference: ICD9CM:429.9
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0018799
database_cross_reference: SNOMEDCT_US_2020_03_01:194707003
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

spinal canal and spinal cord meningioma
type: Class
subclass of: spinal cancer
database_cross_reference: UMLS_CUI:C1334264
has_obo_namespace: disease_ontology
id: DOID:1140
database_cross_reference: NCI:C5134
in_subset: NCIthesaurus
imported from: doid.owl

pyelonephritis
type: Class
subclass of: pyelitis
database_cross_reference: ICD9CM:590.80
database_cross_reference: MESH:D011704
id: DOID:11400
database_cross_reference: SNOMEDCT_US_2020_03_01:45816000
database_cross_reference: ICD10CM:N16
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34965
database_cross_reference: UMLS_CUI:C0034186
in_subset: NCIthesaurus
imported from: doid.owl

xanthogranulomatous pyelonephritis
type: Class
subclass of: chronic pyelonephritis
database_cross_reference: UMLS_CUI:C0034188
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D011705
database_cross_reference: SNOMEDCT_US_2020_03_01:197777006
id: DOID:11401
database_cross_reference: NCI:C123038
has_exact_synonym: Xanthogranulomatous pyelonephritis
in_subset: NCIthesaurus
imported from: doid.owl

diphtheria
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: MESH:D003354
database_cross_reference: GARD:1875
has_alternative_id: DOID:4132
definition: A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys.
database_cross_reference: SNOMEDCT_US_2020_03_01:397434007
has_obo_namespace: disease_ontology
id: DOID:11405
database_cross_reference: UMLS_CUI:C0010153
has_exact_synonym: corynebacterium infection
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

endosalpingiosis
type: Class
subclass of: endometriosis
database_cross_reference: NCI:C40121
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0269106
id: DOID:11427
database_cross_reference: SNOMEDCT_US_2020_03_01:55850004
definition: A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.
in_subset: NCIthesaurus
imported from: doid.owl

exotropia
type: Class
subclass of: strabismus
has_exact_synonym: Divergent Strabismus
database_cross_reference: ICD9CM:378.1
database_cross_reference: MESH:D005099
database_cross_reference: UMLS_CUI:C0015310
database_cross_reference: NCI:C34601
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155194007
database_cross_reference: ICD10CM:H50.1
id: DOID:1143
has_exact_synonym: Divergent concomitant strabismus
in_subset: NCIthesaurus
imported from: doid.owl

brain compression
type: Class
subclass of: brain disease
definition: A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain.
database_cross_reference: ICD9CM:348.4
has_obo_namespace: disease_ontology
id: DOID:11457
database_cross_reference: UMLS_CUI:C0009592
database_cross_reference: ICD10CM:G93.5
database_cross_reference: SNOMEDCT_US_2020_03_01:46963008
imported from: doid.owl

pseudotumor cerebri
type: Class
subclass of: intracranial hypertension
database_cross_reference: MESH:D011559
database_cross_reference: NCI:C85035
id: DOID:11459
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0033845
database_cross_reference: SNOMEDCT_US_2020_03_01:68267002
database_cross_reference: OMIM:243200
database_cross_reference: ICD9CM:348.2
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G93.2
database_cross_reference: GARD:4561
has_exact_synonym: Pseudotumor cerebri
has_exact_synonym: benign intracran. hypt.
has_exact_synonym: benign intracranial hypertension
has_exact_synonym: idiopathic intracranial hypertension
in_subset: NCIthesaurus
imported from: doid.owl

autonomic nervous system disease
type: Class
subclass of: peripheral nervous system disease
database_cross_reference: UMLS_CUI:C0154691
database_cross_reference: ICD9CM:337.1
id: DOID:11465
has_exact_synonym: autonomic nervous system disorder
has_obo_namespace: disease_ontology
imported from: doid.owl

osteoporosis
type: Class
subclass of: bone resorption disease
database_cross_reference: MESH:D010024
comment: Xref MGI.
database_cross_reference: ICD10CM:M81.0
id: DOID:11476
database_cross_reference: OMIM:166710
definition: A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.
database_cross_reference: UMLS_CUI:C0029456
database_cross_reference: NCI:C3298
database_cross_reference: EFO:0003882
database_cross_reference: SNOMEDCT_US_2020_03_01:156825006
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:733.0
in_subset: NCIthesaurus
imported from: doid.owl

polydactyly
type: Class
subclass of: physical disorder
database_cross_reference: OMIM:174200
database_cross_reference: UMLS_CUI:C0220697
database_cross_reference: UMLS_CUI:C0152427
database_cross_reference: OMIM:174500
database_cross_reference: OMIM:174700
database_cross_reference: OMIM:603596
has_alternative_id: DOID:14779
database_cross_reference: NCI:C87110
definition: A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C562429
database_cross_reference: GARD:4410
database_cross_reference: SNOMEDCT_US_2020_03_01:205119005
database_cross_reference: MESH:D017689
database_cross_reference: ICD10CM:Q69
id: DOID:1148
database_cross_reference: ICD9CM:755.0
has_related_synonym: Supernumerary digit
has_exact_synonym: postaxial polydactyly
in_subset: NCIthesaurus
imported from: doid.owl

constrictive pericarditis
type: Class
subclass of: pericarditis
id: DOID:11481
database_cross_reference: UMLS_CUI:C0031048
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:423.2
database_cross_reference: MESH:D010494
database_cross_reference: NCI:C78246
database_cross_reference: SNOMEDCT_US_2020_03_01:155340008
has_exact_synonym: Constrictive pericarditis
in_subset: NCIthesaurus
imported from: doid.owl

hemopericardium
type: Class
subclass of: pericardial effusion
database_cross_reference: NCI:C111644
database_cross_reference: MESH:D010490
database_cross_reference: ICD9CM:423.0
database_cross_reference: UMLS_CUI:C0019064
definition: A pericardial effusion that results from blood in the pericardial sac.
id: DOID:11482
has_exact_synonym: Haemopericardium
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155339006
in_subset: NCIthesaurus
imported from: doid.owl

Horner's syndrome
type: Class
subclass of: autonomic neuropathy
has_obo_namespace: disease_ontology
id: DOID:11486
has_exact_synonym: Horner syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:192922002
database_cross_reference: UMLS_CUI:C0019937
database_cross_reference: OMIM:143000
database_cross_reference: GARD:6670
database_cross_reference: NCI:C28155
database_cross_reference: ICD10CM:G90.2
database_cross_reference: MESH:D006732
has_exact_synonym: Bernard Horner syndrome
has_exact_synonym: cervical sympathetic paralysis
in_subset: NCIthesaurus
imported from: doid.owl

cardiac tamponade
type: Class
subclass of: pericardial effusion
database_cross_reference: ICD10CM:I31.4
id: DOID:115
database_cross_reference: MESH:D002305
definition: A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:266295005
database_cross_reference: UMLS_CUI:C0007177
database_cross_reference: NCI:C50481
database_cross_reference: ICD9CM:423.3
has_exact_synonym: Rose's tamponade
has_exact_synonym: pericardial tamponade
in_subset: NCIthesaurus
imported from: doid.owl

mitral valve insufficiency
type: Class
subclass of: mitral valve disease
database_cross_reference: ICD9CM:746.6
database_cross_reference: SNOMEDCT_US_2020_03_01:194736003
database_cross_reference: SNOMEDCT_US_2020_03_01:29928006
has_exact_synonym: Congenital insufficiency of mitral valve
database_cross_reference: UMLS_CUI:C0158619
database_cross_reference: SNOMEDCT_US_2020_03_01:194977007
database_cross_reference: NCI:C50888
database_cross_reference: ICD10CM:Q23.3
has_alternative_id: DOID:11737
database_cross_reference: ICD9CM:396.3
has_exact_synonym: Mitral valve incompetence
database_cross_reference: UMLS_CUI:C0264774
database_cross_reference: MESH:D008944
has_exact_synonym: congenital mitral insufficiency
has_obo_namespace: disease_ontology
has_alternative_id: DOID:13947
database_cross_reference: UMLS_CUI:C0026266
id: DOID:11502
has_exact_synonym: congenital mitral regurgitation
has_exact_synonym: mitral regurgitation
in_subset: NCIthesaurus
imported from: doid.owl

autonomic neuropathy
type: Class
subclass of: autonomic nervous system disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C27033
database_cross_reference: UMLS_CUI:C0259749
database_cross_reference: SNOMEDCT_US_2020_03_01:277879009
id: DOID:11504
in_subset: NCIthesaurus
imported from: doid.owl

suppurative otitis media
type: Class
subclass of: otitis media
database_cross_reference: SNOMEDCT_US_2020_03_01:267758003
database_cross_reference: ICD10CM:H66.4
database_cross_reference: UMLS_CUI:C0029888
database_cross_reference: ICD9CM:382.4
id: DOID:11506
has_obo_namespace: disease_ontology
definition: A otitis media which involves inflammation of the middle ear with infected effusion containing pus.
database_cross_reference: MESH:D010035
has_exact_synonym: Otitis media with effusion - purulent
has_exact_synonym: Purulent otitis media
imported from: doid.owl

Budd-Chiari syndrome
type: Class
subclass of: hepatic vascular disease
database_cross_reference: ICD10CM:I82.0
database_cross_reference: OMIM:600880
database_cross_reference: MESH:D006502
database_cross_reference: UMLS_CUI:C0019154
has_obo_namespace: disease_ontology
id: DOID:11512
database_cross_reference: SNOMEDCT_US_2020_03_01:195436007
has_exact_synonym: hepatic vein thrombosis
imported from: doid.owl

fissured tongue
type: Class
subclass of: tongue disease
database_cross_reference: ICD9CM:529.5
database_cross_reference: ICD10CM:K14.5
database_cross_reference: OMIM:137400
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D014063
database_cross_reference: UMLS_CUI:C0040412
database_cross_reference: SNOMEDCT_US_2020_03_01:52368004
id: DOID:11514
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Congenital fissure of tongue
has_exact_synonym: Congenital plicated tongue
has_exact_synonym: Fissure of tongue
has_exact_synonym: Fissure of tongue, congenital
has_exact_synonym: Furrowed tongue
has_exact_synonym: Plicated tongue
has_exact_synonym: Tongue, Fissured
has_exact_synonym: geographic tongue and fissured tongue
has_exact_synonym: lingua plicata
has_exact_synonym: scrotal tongue
imported from: doid.owl

hypertensive heart disease
type: Class
subclass of: heart disease
id: DOID:11516
definition: A heart disease that is caused by high blood pressure.
database_cross_reference: ICD9CM:402
database_cross_reference: SNOMEDCT_US_2020_03_01:155297007
database_cross_reference: UMLS_CUI:C0152105
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:I11
database_cross_reference: NCI:C157879
imported from: doid.owl

laryngostenosis
type: Class
subclass of: laryngeal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:195864007
database_cross_reference: UMLS_CUI:C0023075
id: DOID:11527
database_cross_reference: ICD9CM:478.74
database_cross_reference: MESH:D007829
database_cross_reference: ICD10CM:J38.6
database_cross_reference: NCI:C79608
has_exact_synonym: Stenosis of larynx
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

recurrent corneal erosion
type: Class
subclass of: corneal degeneration
database_cross_reference: ICD10CM:H18.83
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155119
id: DOID:11541
database_cross_reference: SNOMEDCT_US_2020_03_01:2055003
database_cross_reference: ICD9CM:371.42
has_exact_synonym: recurrent erosion of cornea
has_exact_synonym: recurrent erosion syndrome
imported from: doid.owl

corneal abscess
type: Class
subclass of: deep keratitis
database_cross_reference: NCI:C26969
id: DOID:11543
database_cross_reference: ICD9CM:370.55
database_cross_reference: UMLS_CUI:C0155091
database_cross_reference: ICD10CM:H16.31
database_cross_reference: SNOMEDCT_US_2020_03_01:64366002
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

Fuchs' endothelial dystrophy
type: Class
subclass of: corneal endothelial dystrophy
database_cross_reference: OMIM:613268
database_cross_reference: OMIM:613269
database_cross_reference: OMIM:610158
comment: Xref MGI.
database_cross_reference: ICD10CM:H18.51
database_cross_reference: MESH:D005642
database_cross_reference: EFO:0003946
database_cross_reference: OMIM:613270
database_cross_reference: OMIM:613271
database_cross_reference: NCI:C84721
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:136800
id: DOID:11555
definition: A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
has_exact_synonym: FCED
has_exact_synonym: Fuchs' endothelial corneal dystrophy
database_cross_reference: ORDO:98974
database_cross_reference: GARD:10018
database_cross_reference: SNOMEDCT_US_2020_03_01:16949007
database_cross_reference: UMLS_CUI:C0016781
has_exact_synonym: Fuchs' corneal dystrophy
database_cross_reference: OMIM:613267
database_cross_reference: OMIM:615523
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

chondrocalcinosis
type: Class
subclass of: arthritis
database_cross_reference: UMLS_CUI:C0033802
database_cross_reference: OMIM:118600
has_alternative_id: DOID:13301
comment: Xref MGI.
has_alternative_id: DOID:1834
id: DOID:1156
has_alternative_id: DOID:2486
database_cross_reference: UMLS_CUI:C0157852
has_alternative_id: DOID:1155
has_alternative_id: DOID:12090
database_cross_reference: ICD9CM:712.1
has_alternative_id: DOID:12945
database_cross_reference: SNOMEDCT_US_2020_03_01:201625003
database_cross_reference: ORDO:1416
database_cross_reference: NCI:C34955
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14143
has_alternative_id: DOID:14220
definition: An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
has_alternative_id: DOID:12102
has_alternative_id: DOID:1945
has_alternative_id: DOID:13299
has_alternative_id: DOID:13298
database_cross_reference: OMIM:600668
has_alternative_id: DOID:13304
has_alternative_id: DOID:13303
has_alternative_id: DOID:14513
database_cross_reference: SNOMEDCT_US_2020_03_01:201624004
has_alternative_id: DOID:13302
database_cross_reference: OMIM:118610
has_alternative_id: DOID:11303
has_exact_synonym: calcium pyrophosphate deposition disease
has_exact_synonym: pseudogout
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hypertensive retinopathy
type: Class
subclass of: retinal disease
database_cross_reference: NCI:C3514
id: DOID:11561
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:362.11
database_cross_reference: MESH:D058437
database_cross_reference: ICD10CM:H35.03
database_cross_reference: UMLS_CUI:C0152132
database_cross_reference: SNOMEDCT_US_2020_03_01:422001004
in_subset: NCIthesaurus
imported from: doid.owl

neurocirculatory asthenia
type: Class
subclass of: somatoform disorder
database_cross_reference: ICD9CM:306.2
database_cross_reference: MESH:D009449
database_cross_reference: SNOMEDCT_US_2020_03_01:46219009
definition: A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities.
has_exact_synonym: Cardiovascular malfunction arising from mental factors
has_exact_synonym: Cardiovascular neurosis
id: DOID:11569
has_exact_synonym: Krishaber's disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027821
has_exact_synonym: Da Costa's syndrome
imported from: doid.owl

listeriosis
type: Class
subclass of: primary bacterial infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:027.0
definition: A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.
has_exact_synonym: Listeria infection
database_cross_reference: UMLS_CUI:C0023860
database_cross_reference: NCI:C82994
database_cross_reference: ICD10CM:A32
database_cross_reference: SNOMEDCT_US_2020_03_01:186315001
database_cross_reference: MESH:D008088
id: DOID:11573
has_exact_synonym: Infection by Listeria monocytogenes
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

Cauda equina syndrome
type: Class
subclass of: syndrome
subclass of: peripheral nervous system disease
database_cross_reference: GARD:10987
has_obo_namespace: disease_ontology
id: DOID:11577
definition: A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.
database_cross_reference: MESH:D000077684
database_cross_reference: ICD10CM:G83.4
database_cross_reference: ICD9CM:344.6
database_cross_reference: UMLS_CUI:C0392548
database_cross_reference: SNOMEDCT_US_2020_03_01:89356000
database_cross_reference: NCI:C35436
in_subset: NCIthesaurus
imported from: doid.owl

phlyctenulosis
type: Class
subclass of: keratoconjunctivitis
database_cross_reference: ICD9CM:370.31
database_cross_reference: SNOMEDCT_US_2020_03_01:193773009
database_cross_reference: ICD10CM:H16.25
id: DOID:11581
has_obo_namespace: disease_ontology
has_exact_synonym: Strumous ophthalmia
database_cross_reference: UMLS_CUI:C0155080
has_exact_synonym: Phlyctenular keratoconjunctivitis
imported from: doid.owl

Riley-Day syndrome
type: Class
subclass of: hereditary sensory neuropathy
database_cross_reference: OMIM:223900
database_cross_reference: ICD10CM:G90.1
has_obo_namespace: disease_ontology
has_exact_synonym: HSAN III
database_cross_reference: MESH:D004402
database_cross_reference: UMLS_CUI:C0013364
database_cross_reference: SNOMEDCT_US_2020_03_01:204087006
database_cross_reference: NCI:C84706
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:11589
has_exact_synonym: familial autonomic nervous dysfunction
has_exact_synonym: familial dysautonomia
in_subset: NCIthesaurus
imported from: doid.owl

functional gastric disease
type: Class
subclass of: stomach disease
database_cross_reference: UMLS_CUI:C0013396
database_cross_reference: ICD9CM:536.8
id: DOID:1159
has_obo_namespace: disease_ontology
imported from: doid.owl

scleral staphyloma
type: Class
subclass of: scleral disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:379.11
database_cross_reference: ICD10CM:H15.84
database_cross_reference: UMLS_CUI:C0155359
id: DOID:11595
database_cross_reference: SNOMEDCT_US_2020_03_01:111534007
has_exact_synonym: Scleral ectasia
imported from: doid.owl

Frey syndrome
type: Class
subclass of: autonomic nervous system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:56046002
id: DOID:11599
has_exact_synonym: Baillarger syndrome
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013547
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0038994
database_cross_reference: GARD:6467
database_cross_reference: OMIM:144100
has_exact_synonym: gustatory hyperhidrosis
has_exact_synonym: gustatory sweating
imported from: doid.owl

pericardium cancer
type: Class
subclass of: pericardium disease
subclass of: heart cancer
database_cross_reference: NCI:C4567
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0349574
has_alternative_id: DOID:5780
database_cross_reference: NCI:C4651
database_cross_reference: ICD10CM:C38.0
id: DOID:116
database_cross_reference: UMLS_CUI:C0346609
database_cross_reference: SNOMEDCT_US_2020_03_01:93957005
database_cross_reference: SNOMEDCT_US_2020_03_01:126734005
has_exact_synonym: Pericardial tumor
has_exact_synonym: malignant neoplasm of pericardium
has_exact_synonym: malignant tumor of Pericardium
in_subset: NCIthesaurus
imported from: doid.owl

fungal meningitis
type: Class
subclass of: fungal infectious disease
subclass of: meningitis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:24321005
database_cross_reference: UMLS_CUI:C0085438
database_cross_reference: MESH:D016921
definition: A meningitis that has_material_basis_in a fungal infection.
id: DOID:11608
imported from: doid.owl

polycystic ovary syndrome
type: Class
subclass of: ovarian dysfunction
database_cross_reference: ICD10CM:E28.2
database_cross_reference: MESH:D011085
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:184700
database_cross_reference: ICD9CM:256.4
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0000660
id: DOID:11612
database_cross_reference: NCI:C26862
definition: An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.
has_exact_synonym: PCOS
has_exact_synonym: Polycystic Ovarian disease
has_exact_synonym: Polycystic ovaries
has_exact_synonym: Polycystic ovary syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:69878008
has_exact_synonym: Stein-Leventhal synd.
has_exact_synonym: Stein-Leventhal syndrome
database_cross_reference: UMLS_CUI:C0032460
has_exact_synonym: Multicystic ovaries
has_exact_synonym: polycystic ovary
in_subset: NCIthesaurus
imported from: doid.owl

hyperandrogenism
type: Class
subclass of: disorder of sexual development
id: DOID:11613
database_cross_reference: MESH:D017588
database_cross_reference: SNOMEDCT_US_2020_03_01:237793004
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0206081
has_exact_synonym: hyperandrogenization syndrome
imported from: doid.owl

penile cancer
type: Class
subclass of: penile disease
subclass of: male reproductive organ cancer
database_cross_reference: UMLS_CUI:C0153600
database_cross_reference: UMLS_CUI:C0153601
database_cross_reference: SNOMEDCT_US_2020_03_01:93954003
has_alternative_id: DOID:11614
has_exact_synonym: Ca penis
database_cross_reference: ICD10CM:C60.2
database_cross_reference: ICD9CM:187.4
database_cross_reference: ICD9CM:187.3
database_cross_reference: SNOMEDCT_US_2020_03_01:93716006
has_obo_namespace: disease_ontology
id: DOID:11615
database_cross_reference: MESH:D010412
database_cross_reference: NCI:C7547
database_cross_reference: ICD10CM:C60
has_exact_synonym: Penile Ca
has_exact_synonym: malignant Penile tumor
has_exact_synonym: malignant neoplasm of body of penis
has_exact_synonym: penile neoplasm
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

dental pulp necrosis
type: Class
subclass of: dental pulp disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:196332000
id: DOID:11623
database_cross_reference: UMLS_CUI:C0011407
database_cross_reference: MESH:D003790
database_cross_reference: ICD9CM:522.1
database_cross_reference: ICD10CM:K04.1
has_exact_synonym: necrosis of the pulp
has_exact_synonym: necrotic pulp
has_exact_synonym: pulp necrosis
imported from: doid.owl

penile benign neoplasm
type: Class
subclass of: male reproductive organ benign neoplasm
subclass of: penile disease
database_cross_reference: UMLS_CUI:C0030849
id: DOID:11624
database_cross_reference: MESH:D010412
database_cross_reference: NCI:C3317
has_obo_namespace: disease_ontology
has_exact_synonym: Penile tumor
database_cross_reference: SNOMEDCT_US_2020_03_01:126896003
has_exact_synonym: neoplasm of penis
in_subset: NCIthesaurus
imported from: doid.owl

thyroid hormone resistance syndrome
type: Class
subclass of: hypothyroidism
has_exact_synonym: Generalized thyroid hormone resistance
database_cross_reference: UMLS_CUI:C2940786
database_cross_reference: OMIM:188570
database_cross_reference: OMIM:274300
database_cross_reference: SNOMEDCT_US_2020_03_01:50375007
id: DOID:11633
database_cross_reference: NCI:C85191
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018382
comment: OMIM mapping confirmed by DO. [LS].
has_exact_synonym: Refetoff syndrome
has_exact_synonym: Thyroid hormone resistance syndrome
has_exact_synonym: Thyroid hormone responsiveness defect
has_exact_synonym: thyroid hormone resistance
in_subset: NCIthesaurus
imported from: doid.owl

presbyopia
type: Class
subclass of: eye accommodation disease
id: DOID:11638
database_cross_reference: UMLS_CUI:C0033075
database_cross_reference: ICD9CM:367.4
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H52.4
database_cross_reference: MESH:D011305
database_cross_reference: SNOMEDCT_US_2020_03_01:155135005
imported from: doid.owl

cicatricial pemphigoid
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: bullous skin disease
database_cross_reference: ICD10CM:L12.1
database_cross_reference: ICD9CM:694.6
database_cross_reference: NCI:C34907
database_cross_reference: SNOMEDCT_US_2020_03_01:34250006
definition: A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
has_exact_synonym: Cicatricial pemphigoid with ocular involvement
id: DOID:11656
database_cross_reference: OMIM:164185
has_alternative_id: DOID:11655
database_cross_reference: MESH:D010390
has_exact_synonym: Ocular pemphigoid
has_obo_namespace: disease_ontology
database_cross_reference: GARD:5913
database_cross_reference: UMLS_CUI:C0030804
database_cross_reference: UMLS_CUI:C0157721
database_cross_reference: SNOMEDCT_US_2020_03_01:76092003
database_cross_reference: ICD9CM:694.61
has_exact_synonym: benign mucous membrane pemphigoid
has_exact_synonym: benign mucous membrane pemphigoid with ocular involvement
has_exact_synonym: ocular pemphigus
in_subset: NCIthesaurus
imported from: doid.owl

palindromic rheumatism
type: Class
subclass of: arthritis
definition: An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms.
has_alternative_id: DOID:1178
database_cross_reference: SNOMEDCT_US_2020_03_01:202457009
has_alternative_id: DOID:1177
has_alternative_id: DOID:1179
database_cross_reference: ICD9CM:719.31
has_alternative_id: DOID:13771
database_cross_reference: MESH:C538103
database_cross_reference: GARD:7304
has_alternative_id: DOID:13355
has_alternative_id: DOID:13354
id: DOID:1166
database_cross_reference: ICD9CM:719.3
has_alternative_id: DOID:1165
has_exact_synonym: Hench's syndrome
has_exact_synonym: Hench-Rosenberg syndrome
database_cross_reference: UMLS_CUI:C0158178
has_alternative_id: DOID:12951
database_cross_reference: ICD10CM:M12.3
database_cross_reference: SNOMEDCT_US_2020_03_01:202455001
database_cross_reference: UMLS_CUI:C0085574
has_obo_namespace: disease_ontology
imported from: doid.owl

blue color blindness
type: Class
subclass of: autosomal dominant disease
subclass of: color blindness
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:H53.55
database_cross_reference: SNOMEDCT_US_2020_03_01:51886007
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:368.53
id: DOID:11661
database_cross_reference: OMIM:190900
definition: A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function.
database_cross_reference: MESH:D003117
has_exact_synonym: Tritan defect
has_exact_synonym: Tritanopia
database_cross_reference: UMLS_CUI:C0155017
imported from: doid.owl

Patau syndrome
type: Class
subclass of: chromosomal disease
database_cross_reference: ICD10CM:Q91.7
database_cross_reference: SNOMEDCT_US_2020_03_01:21111006
id: DOID:11665
database_cross_reference: ICD9CM:758.1
database_cross_reference: NCI:C101223
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: MESH:D000073839
has_obo_namespace: disease_ontology
has_exact_synonym: D1 Trisomy
has_related_synonym: Patau's syndrome
database_cross_reference: UMLS_CUI:C0152095
has_exact_synonym: trisomy 13
in_subset: NCIthesaurus
imported from: doid.owl

onchocerciasis
type: Class
subclass of: filariasis
database_cross_reference: MESH:D009855
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:B73
definition: A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy.
database_cross_reference: ICD9CM:125.3
id: DOID:11678
has_exact_synonym: Infection by Onchocerca volvulus
has_exact_synonym: Onchocerca volvulus infection
database_cross_reference: UMLS_CUI:C0029001
database_cross_reference: GARD:7252
database_cross_reference: SNOMEDCT_US_2020_03_01:38539003
database_cross_reference: NCI:C34861
has_exact_synonym: volvulosis
in_subset: NCIthesaurus
imported from: doid.owl

familial hyperlipidemia
type: Class
subclass of: lipid metabolism disorder
database_cross_reference: UMLS_CUI:C0020473
database_cross_reference: MESH:D006949
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0020476
id: DOID:1168
database_cross_reference: SNOMEDCT_US_2020_03_01:3744001
database_cross_reference: MESH:D006951
database_cross_reference: SNOMEDCT_US_2020_03_01:154739000
has_alternative_id: DOID:3147
database_cross_reference: NCI:C34707
database_cross_reference: ICD10CM:E78.5
database_cross_reference: NCI:C34709
has_exact_synonym: familial hyperlipoproteinemia
has_exact_synonym: hyperlipemia
has_related_synonym: hyperlipidaemia
in_subset: NCIthesaurus
imported from: doid.owl

melanoacanthoma
type: Class
subclass of: seborrheic keratosis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1321683
id: DOID:11684
database_cross_reference: NCI:C27548
database_cross_reference: SNOMEDCT_US_2020_03_01:201096007
in_subset: NCIthesaurus
imported from: doid.owl

acute apical periodontitis
type: Class
subclass of: periapical periodontitis
database_cross_reference: ICD10CM:K04.4
database_cross_reference: ICD9CM:522.4
database_cross_reference: UMLS_CUI:C0155934
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:88071000
id: DOID:11693
has_exact_synonym: acute apical periodontitis of pulpal origin
imported from: doid.owl

portal vein thrombosis
type: Class
subclass of: thrombosis
subclass of: hepatic vascular disease
subclass of: vein disease
definition: A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.
database_cross_reference: ICD9CM:452
database_cross_reference: ICD10CM:I81
database_cross_reference: UMLS_CUI:C0155773
database_cross_reference: SNOMEDCT_US_2020_03_01:155455003
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C78565
id: DOID:11695
in_subset: NCIthesaurus
imported from: doid.owl

heart cancer
type: Class
subclass of: heart disease
subclass of: cardiovascular cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:126730001
database_cross_reference: GARD:2619
database_cross_reference: NCI:C3548
database_cross_reference: ICD10CM:C38.0
database_cross_reference: UMLS_CUI:C0018809
database_cross_reference: ICD9CM:164.1
database_cross_reference: NCI:C3081
database_cross_reference: MESH:D006338
id: DOID:117
database_cross_reference: SNOMEDCT_US_2020_03_01:93825008
definition: A cardiovascular cancer located_in the heart.
has_exact_synonym: Cardiac tumor
has_exact_synonym: Tumour of heart
database_cross_reference: UMLS_CUI:C0153500
has_alternative_id: DOID:9918
has_obo_namespace: disease_ontology
has_exact_synonym: malignant Cardiac tumor
has_exact_synonym: malignant neoplasm of heart
in_subset: NCIthesaurus
imported from: doid.owl

dysgammaglobulinemia
type: Class
subclass of: selective immunoglobulin deficiency disease
database_cross_reference: UMLS_CUI:C0013374
definition: A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.
database_cross_reference: MESH:D004406
database_cross_reference: SNOMEDCT_US_2020_03_01:127389001
id: DOID:11702
has_exact_synonym: Dysgammaglobulinemia
has_obo_namespace: disease_ontology
imported from: doid.owl

diabetic angiopathy
type: Class
subclass of: peripheral vascular disease
has_exact_synonym: diabetic peripheral angiopathy
has_alternative_id: DOID:10182
definition: A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.
id: DOID:11713
database_cross_reference: NCI:C35610
database_cross_reference: SNOMEDCT_US_2020_03_01:127014009
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0011875
database_cross_reference: MESH:D003925
database_cross_reference: ICD9CM:250.7
database_cross_reference: UMLS_CUI:C0011871
has_exact_synonym: Diabetic vascular disorder
in_subset: NCIthesaurus
imported from: doid.owl

gestational diabetes
type: Class
subclass of: diabetes mellitus
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D016640
database_cross_reference: SNOMEDCT_US_2020_03_01:11687002
database_cross_reference: EFO:0004593
database_cross_reference: NCI:C34942
id: DOID:11714
definition: A diabetes mellitus that manifests during pregnancy.
has_exact_synonym: GDM
has_exact_synonym: Gestational diabetes mellitus
has_exact_synonym: Maternal gestational diabetes mellitus
database_cross_reference: UMLS_CUI:C0085207
database_cross_reference: ICD10CM:O24.4
in_subset: NCIthesaurus
imported from: doid.owl

prediabetes syndrome
type: Class
subclass of: glucose metabolism disease
database_cross_reference: SNOMEDCT_US_2020_03_01:15777000
id: DOID:11716
has_exact_synonym: impaired glucose tolerance
database_cross_reference: MESH:D011236
database_cross_reference: NCI:C122685
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0362046
definition: A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.
database_cross_reference: ICD10CM:R73.03
has_exact_synonym: Prediabetes
has_exact_synonym: prediabetic state
in_subset: NCIthesaurus
imported from: doid.owl

neonatal diabetes
type: Class
subclass of: diabetes mellitus
id: DOID:11717
database_cross_reference: NCI:C99248
database_cross_reference: UMLS_CUI:C0158981
definition: A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life.
database_cross_reference: ICD10CM:P70.2
database_cross_reference: SNOMEDCT_US_2020_03_01:49817004
has_exact_synonym: diabetes mellitus syndrome in newborn infant
has_exact_synonym: neonatal diabetes mellitus
database_cross_reference: ICD9CM:775.1
has_obo_namespace: disease_ontology
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

hyperlipoproteinemia type IV
type: Class
subclass of: familial hyperlipidemia
id: DOID:1172
database_cross_reference: MESH:D006953
database_cross_reference: ICD10CM:E78.1
database_cross_reference: OMIM:144600
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0020480
database_cross_reference: NCI:C34711
database_cross_reference: OMIM:145750
database_cross_reference: SNOMEDCT_US_2020_03_01:154741004
has_alternative_id: DOID:0050527
database_cross_reference: ICD9CM:272.1
has_exact_synonym: Endogenous hyperlipidaemia
has_exact_synonym: Fredrickson type IV Lipidemia
has_exact_synonym: Fredrickson type IV hyperlipoproteinemia
has_exact_synonym: Fredrickson type IV lipidaemia
has_exact_synonym: VLDL hyperlipoproteinemia
has_obo_namespace: disease_ontology
has_exact_synonym: familial hypertriglyceridemia
in_subset: NCIthesaurus
imported from: doid.owl

distal myopathy
type: Class
subclass of: muscular dystrophy
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:59135
database_cross_reference: ORDO:5448
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0751336
database_cross_reference: ICD10CM:G71.09
database_cross_reference: MESH:D049310
definition: A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
database_cross_reference: NCI:C84675
id: DOID:11720
database_cross_reference: ORDO:399096
database_cross_reference: SNOMEDCT_US_2020_03_01:58795000
has_exact_synonym: Miyoshi muscular dystrophy
has_exact_synonym: distal muscular dystrophy
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

myotonic dystrophy type 1
type: Class
subclass of: myotonic disease
database_cross_reference: UMLS_CUI:C0027126
id: DOID:11722
database_cross_reference: GARD:8310
definition: A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Dystrophia myotonica
database_cross_reference: MESH:D009223
database_cross_reference: NCI:C84914
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G71.11
database_cross_reference: ICD9CM:359.21
database_cross_reference: OMIM:160900
database_cross_reference: SNOMEDCT_US_2020_03_01:77956009
has_exact_synonym: Steinert disease
has_exact_synonym: congenital myotonic dystrophy
has_exact_synonym: myotonic dystrophy of Steinert
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Duchenne muscular dystrophy
type: Class
subclass of: X-linked recessive disease
subclass of: muscular dystrophy
database_cross_reference: SNOMEDCT_US_2020_03_01:155095006
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:11723
definition: A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
database_cross_reference: NCI:C75482
database_cross_reference: OMIM:310200
database_cross_reference: GARD:6291
database_cross_reference: UMLS_CUI:C0013264
database_cross_reference: MESH:D020388
has_exact_synonym: Muscular dystrophy, Duchenne
has_obo_namespace: disease_ontology
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

limb-girdle muscular dystrophy
type: Class
subclass of: muscular dystrophy
database_cross_reference: UMLS_CUI:C0686353
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84828
database_cross_reference: ICD10CM:G71.09
database_cross_reference: GARD:6907
definition: A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
database_cross_reference: MESH:D049288
id: DOID:11724
has_exact_synonym: Erb's muscular dystrophy
has_exact_synonym: Leyden-Mbius muscular dystrophy
database_cross_reference: ORDO:263
database_cross_reference: SNOMEDCT_US_2020_03_01:56096001
has_obo_namespace: disease_ontology
has_exact_synonym: limb girdle muscular dystrophy
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Cornelia de Lange syndrome
type: Class
subclass of: monogenic disease
subclass of: syndrome
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0270972
database_cross_reference: GARD:10109
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D003635
database_cross_reference: ORDO:199
definition: A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
database_cross_reference: ICD10CM:Q87.19
database_cross_reference: OMIM:PS122470
has_exact_synonym: Brachmann de Lange syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:40354009
id: DOID:11725
database_cross_reference: NCI:C75016
has_exact_synonym: De Lange syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Emery-Dreifuss muscular dystrophy
type: Class
subclass of: muscular dystrophy
database_cross_reference: ORDO:261
has_exact_synonym: EDMD
database_cross_reference: OMIM:PS310300
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84685
database_cross_reference: SNOMEDCT_US_2020_03_01:129620000
database_cross_reference: MESH:D020389
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
database_cross_reference: GARD:6329
database_cross_reference: UMLS_CUI:C0410189
id: DOID:11726
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

facioscapulohumeral muscular dystrophy
type: Class
subclass of: muscular dystrophy
database_cross_reference: MESH:D020391
database_cross_reference: GARD:9941
id: DOID:11727
has_exact_synonym: Landouzy Dejerine muscular dystrophy
has_exact_synonym: Landouzy-Dejerine muscular dystrophy
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:56096001
database_cross_reference: NCI:C84704
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0238288
database_cross_reference: ICD10CM:G71.02
has_exact_synonym: Muscular dystrophy, Landouzy-Dejerine
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Lyme disease
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: MESH:D020852
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:088.81
database_cross_reference: UMLS_CUI:C0752235
database_cross_reference: MESH:D008193
database_cross_reference: SNOMEDCT_US_2020_03_01:715507005
database_cross_reference: UMLS_CUI:C0024198
database_cross_reference: GARD:12073
definition: A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.
database_cross_reference: ICD10CM:A69.2
has_exact_synonym: Bannwarth syndrome
has_exact_synonym: Bannworth's syndrome
database_cross_reference: NCI:C45161
id: DOID:11729
has_alternative_id: DOID:12233
has_exact_synonym: Lyme borreliosis
has_exact_synonym: Neurological Lyme disease
database_cross_reference: SNOMEDCT_US_2020_03_01:154376000
has_exact_synonym: lyme neuroboInOwlrreliosis
has_exact_synonym: neuroboInOwlrreliosis
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

choledocholithiasis
type: Class
subclass of: common bile duct disease
database_cross_reference: SNOMEDCT_US_2020_03_01:197397004
id: DOID:11755
database_cross_reference: MESH:D042883
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0701818
imported from: doid.owl

hypochromic anemia
type: Class
subclass of: anemia
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000747
database_cross_reference: ICD10CM:D50
database_cross_reference: SNOMEDCT_US_2020_03_01:44452003
database_cross_reference: NCI:C34380
has_exact_synonym: ANEMIA HYPOCHROMIC
id: DOID:11759
database_cross_reference: UMLS_CUI:C0002884
in_subset: NCIthesaurus
imported from: doid.owl

bronchial disease
type: Class
subclass of: lower respiratory tract disease
definition: A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.
database_cross_reference: SNOMEDCT_US_2020_03_01:41427001
has_exact_synonym: Bronchospasm
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0006261
has_alternative_id: DOID:12322
id: DOID:1176
has_alternative_id: DOID:1175
database_cross_reference: MESH:D001982
imported from: doid.owl

spontaneous ocular nystagmus
type: Class
subclass of: pathologic nystagmus
database_cross_reference: MESH:D009759
id: DOID:11771
database_cross_reference: UMLS_CUI:C0271384
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:379.53
database_cross_reference: SNOMEDCT_US_2020_03_01:39771000
database_cross_reference: ICD10CM:H55.03
has_exact_synonym: Ocular nystagmus
has_exact_synonym: Searching eye movements
has_exact_synonym: visual deprivation nystagmus
imported from: doid.owl

leukocoria
type: Class
subclass of: eye degenerative disease
database_cross_reference: SNOMEDCT_US_2020_03_01:193288000
database_cross_reference: ICD9CM:360.44
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0152458
database_cross_reference: ICD10CM:H44.53
id: DOID:11772
has_exact_synonym: Leucocoria
imported from: doid.owl

regular astigmatism
type: Class
subclass of: astigmatism
database_cross_reference: UMLS_CUI:C0152193
database_cross_reference: ICD9CM:367.21
database_cross_reference: SNOMEDCT_US_2020_03_01:68905002
database_cross_reference: ICD10CM:H52.22
id: DOID:11781
has_obo_namespace: disease_ontology
imported from: doid.owl

astigmatism
type: Class
subclass of: refractive error
definition: A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision.
id: DOID:11782
database_cross_reference: EFO:0004222
database_cross_reference: ICD10CM:H52.2
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155134009
database_cross_reference: ICD9CM:367.2
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D001251
database_cross_reference: UMLS_CUI:C0004106
database_cross_reference: OMIM:603047
imported from: doid.owl

splenic sequestration
type: Class
subclass of: splenic disease
database_cross_reference: ICD9CM:289.52
database_cross_reference: UMLS_CUI:C1260402
has_obo_namespace: disease_ontology
id: DOID:11786
imported from: doid.owl

pericardial effusion
type: Class
subclass of: pericardium disease
definition: A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
database_cross_reference: UMLS_CUI:C0031039
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3319
database_cross_reference: MESH:D010490
id: DOID:118
database_cross_reference: SNOMEDCT_US_2020_03_01:70370001
in_subset: NCIthesaurus
imported from: doid.owl

protein-energy malnutrition
type: Class
subclass of: nutritional deficiency disease
has_obo_namespace: disease_ontology
id: DOID:11801
database_cross_reference: MESH:D011502
database_cross_reference: UMLS_CUI:C0033677
database_cross_reference: SNOMEDCT_US_2020_03_01:72608005
database_cross_reference: ICD10CM:E46
database_cross_reference: NCI:C34952
database_cross_reference: ICD9CM:263.9
definition: A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation.
in_subset: NCIthesaurus
imported from: doid.owl

vitreous syneresis
type: Class
subclass of: vitreous disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:379.21
database_cross_reference: SNOMEDCT_US_2020_03_01:60189009
id: DOID:11816
database_cross_reference: UMLS_CUI:C0155366
database_cross_reference: ICD10CM:H43.81
has_exact_synonym: Vitreous degeneration
imported from: doid.owl

ureter cancer
type: Class
subclass of: ureteral disease
subclass of: urinary system cancer
database_cross_reference: UMLS_CUI:C0153619
database_cross_reference: ICD10CM:C66
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:189.2
id: DOID:11819
database_cross_reference: SNOMEDCT_US_2020_03_01:94121005
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7543
definition: A urinary system cancer that is located_in the ureter.
database_cross_reference: OMIM:191600
database_cross_reference: MESH:D014516
has_exact_synonym: malignant tumour of ureter
has_exact_synonym: malignant ureteral tumor
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

multicentric reticulohistiocytosis
type: Class
subclass of: syndrome
database_cross_reference: ORDO:139436
database_cross_reference: ICD10CM:E78.81
database_cross_reference: NCI:C27896
database_cross_reference: SNOMEDCT_US_2020_03_01:84241008
id: DOID:11824
definition: A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.
database_cross_reference: GARD:7103
has_exact_synonym: Lipoid dermatoarthritis
has_exact_synonym: Multicentric reticulohistiocytosis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0311284
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

myopia
type: Class
subclass of: refractive error
database_cross_reference: EFO:0003927
database_cross_reference: OMIM:615946
database_cross_reference: SNOMEDCT_US_2020_03_01:155133003
database_cross_reference: OMIM:612554
database_cross_reference: OMIM:609256
database_cross_reference: UMLS_CUI:C0027092
database_cross_reference: OMIM:609257
database_cross_reference: OMIM:609994
database_cross_reference: OMIM:609995
database_cross_reference: OMIM:609258
database_cross_reference: OMIM:609259
database_cross_reference: OMIM:608367
database_cross_reference: OMIM:613969
database_cross_reference: OMIM:612717
database_cross_reference: ICD9CM:367.1
database_cross_reference: NCI:C102533
database_cross_reference: OMIM:614167
database_cross_reference: OMIM:255500
database_cross_reference: OMIM:615431
database_cross_reference: OMIM:160700
database_cross_reference: OMIM:614166
database_cross_reference: OMIM:300613
database_cross_reference: ICD10CM:H52.1
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:310460
database_cross_reference: OMIM:608474
database_cross_reference: OMIM:610320
definition: A refractive error characterized by the inability to see farther objects clearly.
database_cross_reference: OMIM:613959
id: DOID:11830
database_cross_reference: OMIM:603221
database_cross_reference: MESH:D009216
database_cross_reference: OMIM:608908
database_cross_reference: OMIM:615420
comment: Xref MGI.
has_exact_synonym: near vision
has_exact_synonym: near-sightedness
has_exact_synonym: short-sightedness
in_subset: NCIthesaurus
imported from: doid.owl

cortical blindness
type: Class
subclass of: visual cortex disease
database_cross_reference: ICD9CM:377.75
database_cross_reference: NCI:C118707
database_cross_reference: ICD10CM:H47.61
database_cross_reference: SNOMEDCT_US_2020_03_01:68574006
database_cross_reference: UMLS_CUI:C0155320
database_cross_reference: MESH:D019575
has_obo_namespace: disease_ontology
id: DOID:11831
in_subset: NCIthesaurus
imported from: doid.owl

visual epilepsy
type: Class
subclass of: epilepsy
database_cross_reference: SNOMEDCT_US_2020_03_01:39194005
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3980
database_cross_reference: MESH:D012640
id: DOID:11832
database_cross_reference: UMLS_CUI:C0270824
has_exact_synonym: epilepsy, visual
in_subset: NCIthesaurus
imported from: doid.owl

clubfoot
type: Class
subclass of: bone development disease
database_cross_reference: NCI:C84641
has_exact_synonym: Congenital equinovarus
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:11836
has_alternative_id: DOID:0001874
database_cross_reference: SNOMEDCT_US_2020_03_01:33163000
database_cross_reference: ICD10CM:Q66.89
database_cross_reference: MESH:D003025
definition: A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
database_cross_reference: ICD9CM:754.51
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0009081
database_cross_reference: OMIM:119800
has_exact_synonym: Equinovarus deformity of foot
has_exact_synonym: congenital clubfoot
has_exact_synonym: congenital talipes equinovarus
in_subset: NCIthesaurus
imported from: doid.owl

nephrotic syndrome
type: Class
subclass of: nephrosis
database_cross_reference: MESH:D009404
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027726
id: DOID:1184
database_cross_reference: NCI:C34845
database_cross_reference: ICD10CM:N04
comment: Xref MGI.
database_cross_reference: ICD9CM:581
database_cross_reference: SNOMEDCT_US_2020_03_01:155851004
definition: A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.
in_subset: NCIthesaurus
imported from: doid.owl

coronary artery vasospasm
type: Class
subclass of: coronary artery disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D003329
has_exact_synonym: Coronary artery spasm
database_cross_reference: SNOMEDCT_US_2020_03_01:23687008
database_cross_reference: UMLS_CUI:C0010073
id: DOID:11840
database_cross_reference: NCI:C34515
has_exact_synonym: Coronary Vasospasm
in_subset: NCIthesaurus
imported from: doid.owl

tibial neuropathy
type: Class
subclass of: mononeuropathy
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020429
id: DOID:1187
has_exact_synonym: Posterior tibial neuropathy
has_exact_synonym: Tibial neuropathy
database_cross_reference: UMLS_CUI:C0751932
database_cross_reference: SNOMEDCT_US_2020_03_01:359842002
imported from: doid.owl

Pick's disease
type: Class
subclass of: neurodegenerative disease
database_cross_reference: GARD:7392
database_cross_reference: UMLS_CUI:C0236642
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:331.11
database_cross_reference: SNOMEDCT_US_2020_03_01:154998003
database_cross_reference: MESH:D020774
has_obo_namespace: disease_ontology
id: DOID:11870
has_exact_synonym: Dementia in Pick's disease
database_cross_reference: OMIM:172700
database_cross_reference: ICD10CM:G31.01
has_exact_synonym: LOBAR ATROPHY OF BRAIN
database_cross_reference: NCI:C85008
has_exact_synonym: PICK DISEASE OF BRAIN
has_exact_synonym: Pick disease
in_subset: NCIthesaurus
imported from: doid.owl

denture stomatitis
type: Class
subclass of: stomatitis
has_exact_synonym: Denture sore mouth
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013282
database_cross_reference: UMLS_CUI:C0038364
database_cross_reference: ICD10CM:K12.1
id: DOID:11875
database_cross_reference: SNOMEDCT_US_2020_03_01:196576008
imported from: doid.owl

mononeuropathy
type: Class
subclass of: neuropathy
definition: A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve.
database_cross_reference: MESH:D020422
id: DOID:1188
database_cross_reference: UMLS_CUI:C0494491
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G58.9
database_cross_reference: SNOMEDCT_US_2020_03_01:304595001
imported from: doid.owl

ureteral benign neoplasm
type: Class
subclass of: ureteral disease
subclass of: urinary system benign neoplasm
id: DOID:11885
database_cross_reference: MESH:D014516
database_cross_reference: UMLS_CUI:C0041955
database_cross_reference: SNOMEDCT_US_2020_03_01:126882009
database_cross_reference: NCI:C3427
has_obo_namespace: disease_ontology
has_exact_synonym: neoplasm of ureter
has_exact_synonym: ureteral tumor
in_subset: NCIthesaurus
imported from: doid.owl

vaginal cancer
type: Class
subclass of: female reproductive organ cancer
subclass of: vaginal disease
database_cross_reference: ICD9CM:184.0
database_cross_reference: SNOMEDCT_US_2020_03_01:188210000
id: DOID:119
database_cross_reference: UMLS_CUI:C0042237
database_cross_reference: UMLS_CUI:C0042258
database_cross_reference: NCI:C7410
database_cross_reference: ICD10CM:C52
database_cross_reference: SNOMEDCT_US_2020_03_01:126921000
has_alternative_id: DOID:1902
database_cross_reference: NCI:C3437
database_cross_reference: GARD:9348
definition: A female reproductive system cancer that is located_in the vagina.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D014625
has_exact_synonym: malignant neoplasm of vagina
has_exact_synonym: malignant tumor of vagina
has_exact_synonym: malignant vaginal tumor
has_exact_synonym: neoplasm of vagina
has_exact_synonym: vagina neoplasm
has_exact_synonym: vaginal tumor
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

gastroparesis
type: Class
subclass of: functional gastric disease
database_cross_reference: MESH:D018589
database_cross_reference: ICD10CM:K31.84
database_cross_reference: UMLS_CUI:C0152020
id: DOID:11914
has_exact_synonym: Gastroparalysis
database_cross_reference: SNOMEDCT_US_2020_03_01:235675006
has_exact_synonym: Gastroparesis syndrome
database_cross_reference: NCI:C80512
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:536.3
has_exact_synonym: gastric atonia
in_subset: NCIthesaurus
imported from: doid.owl

tinea cruris
type: Class
subclass of: skin disease
subclass of: dermatophytosis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:59089002
database_cross_reference: NCI:C34535
definition: A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze.
has_exact_synonym: Dermatophytosis of Groin and Perianal Area
has_exact_synonym: Dermatophytosis of groin & perianal area
has_exact_synonym: Dermatophytosis of groin and perianal area
has_exact_synonym: Dhobie itch
database_cross_reference: UMLS_CUI:C0011638
database_cross_reference: ICD9CM:110.3
id: DOID:11917
in_subset: NCIthesaurus
imported from: doid.owl

peripheral nervous system neoplasm
type: Class
subclass of: nervous system cancer
subclass of: peripheral nervous system disease
database_cross_reference: MESH:D018317
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:126980002
has_alternative_id: DOID:3194
definition: A nervous system cancer that is located in the peripheral nervous system.
database_cross_reference: SNOMEDCT_US_2020_03_01:189946005
database_cross_reference: NCI:C4972
database_cross_reference: NCI:C3321
database_cross_reference: UMLS_CUI:C0206727
database_cross_reference: MESH:D010524
id: DOID:1192
database_cross_reference: UMLS_CUI:C0031118
has_exact_synonym: neoplasm of peripheral nerve
has_exact_synonym: nerve sheath neoplasm
has_exact_synonym: tumor of PNS
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

tracheal cancer
type: Class
subclass of: respiratory system cancer
subclass of: tracheal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:187855003
definition: A respiratory system cancer that is located_in the trachea.
id: DOID:11920
database_cross_reference: ICD9CM:162.0
database_cross_reference: NCI:C9346
database_cross_reference: UMLS_CUI:C0153489
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C33
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

head and neck cancer
type: Class
subclass of: organ system cancer
database_cross_reference: UMLS_CUI:C0018671
database_cross_reference: MESH:D006258
database_cross_reference: NCI:C3077
database_cross_reference: SNOMEDCT_US_2020_03_01:255055008
id: DOID:11934
has_obo_namespace: disease_ontology
database_cross_reference: GARD:12425
definition: An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.
has_exact_synonym: head and neck neoplasm
has_exact_synonym: head and neck tumours
has_exact_synonym: head/neck neoplasm
has_exact_synonym: tumor of head and neck
in_subset: DO MGI slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

Creutzfeldt-Jakob disease
type: Class
subclass of: prion disease
database_cross_reference: MESH:D007562
database_cross_reference: UMLS_CUI:C0022336
database_cross_reference: GARD:6956
database_cross_reference: SNOMEDCT_US_2020_03_01:155061007
database_cross_reference: OMIM:123400
id: DOID:11949
has_exact_synonym: CJD
database_cross_reference: NCI:C26802
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:046.1
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0004226
has_exact_synonym: Creutzfeldt Jacob syndrome
has_exact_synonym: Creutzfeldt Jakob disease
has_exact_synonym: Creutzfeldt-Jacob disease
database_cross_reference: ICD10CM:A81.0
has_exact_synonym: Jakob-Creutzfeldt disease
has_exact_synonym: Subacute spongiform encephalopathy
has_exact_synonym: Transmissible virus dementia
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

ischemic neuropathy
type: Class
subclass of: neuropathy
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0238309
database_cross_reference: NCI:C27025
database_cross_reference: SNOMEDCT_US_2020_03_01:129611009
id: DOID:1195
has_exact_synonym: Ischemic peripheral neuropathy
in_subset: NCIthesaurus
imported from: doid.owl

esophagitis
type: Class
subclass of: esophageal disease
database_cross_reference: MESH:D004941
database_cross_reference: NCI:C9224
database_cross_reference: ICD10CM:K20
id: DOID:11963
database_cross_reference: UMLS_CUI:C0014868
has_alternative_id: DOID:11962
database_cross_reference: SNOMEDCT_US_2020_03_01:155673008
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:530.1
has_exact_synonym: acute esophagitis
in_subset: NCIthesaurus
imported from: doid.owl

synostosis
type: Class
subclass of: dysostosis
id: DOID:11971
database_cross_reference: MESH:D013580
has_obo_namespace: disease_ontology
definition: A dysostosis that results_in abnormal fusing of adjacent bones.
database_cross_reference: UMLS_CUI:C0039093
imported from: doid.owl

botulism
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: GARD:943
id: DOID:11976
database_cross_reference: MESH:D001906
has_obo_namespace: disease_ontology
definition: A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F.
has_exact_synonym: Food poisoning due to Clostridium botulinum
has_exact_synonym: Foodborne botulism
database_cross_reference: NCI:C84599
database_cross_reference: ICD10CM:A05.1
has_exact_synonym: Botulism poisoning
has_exact_synonym: Infection due to clostridium botulinum
has_exact_synonym: Intoxication with Clostridium botulinum toxin
database_cross_reference: UMLS_CUI:C0006057
database_cross_reference: SNOMEDCT_US_2020_03_01:154276003
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

morbid obesity
type: Class
subclass of: obesity
database_cross_reference: SNOMEDCT_US_2020_03_01:389986000
database_cross_reference: ICD9CM:278.01
id: DOID:11981
database_cross_reference: MESH:D009767
has_exact_synonym: Severe obesity
database_cross_reference: UMLS_CUI:C0028756
database_cross_reference: NCI:C34858
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

Prader-Willi syndrome
type: Class
subclass of: chromosomal disease
subclass of: syndrome
database_cross_reference: MESH:D011218
database_cross_reference: OMIM:176270
database_cross_reference: GARD:5575
definition: A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
database_cross_reference: ICD9CM:759.81
database_cross_reference: ICD10CM:Q87.11
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:739
database_cross_reference: SNOMEDCT_US_2020_03_01:205794007
database_cross_reference: NCI:C75463
id: DOID:11983
database_cross_reference: UMLS_CUI:C0032897
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Prader Willi syndrome
in_subset: NCIthesaurus
imported from: doid.owl

hypertrophic cardiomyopathy
type: Class
subclass of: intrinsic cardiomyopathy
database_cross_reference: NCI:C84773
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D024741
database_cross_reference: SNOMEDCT_US_2020_03_01:389998005
has_alternative_id: DOID:11986
database_cross_reference: SNOMEDCT_US_2020_03_01:83978005
database_cross_reference: NCI:C34449
database_cross_reference: UMLS_CUI:C0007194
database_cross_reference: KEGG:05410
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:217568
definition: An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
id: DOID:11984
database_cross_reference: ICD9CM:425.1
database_cross_reference: MESH:D002312
database_cross_reference: UMLS_CUI:C0949658
has_exact_synonym: familial hypertrophic cardiomyopathy
has_exact_synonym: hypertrophic obstructive cardiomyopathy
in_subset: NCIthesaurus
imported from: doid.owl

osteopoikilosis
type: Class
subclass of: osteosclerosis
database_cross_reference: GARD:4158
database_cross_reference: SNOMEDCT_US_2020_03_01:9147009
database_cross_reference: NCI:C84985
database_cross_reference: ICD10CM:Q78.8
database_cross_reference: UMLS_CUI:C0029455
id: DOID:11991
database_cross_reference: MESH:D010023
database_cross_reference: ICD9CM:756.53
has_obo_namespace: disease_ontology
definition: An osteosclerosis that results_in numerous bone islands located_in skeleton.
in_subset: NCIthesaurus
imported from: doid.owl

atrophy of testis
type: Class
subclass of: testicular disease
database_cross_reference: ICD9CM:608.3
database_cross_reference: UMLS_CUI:C0156312
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155938008
database_cross_reference: ICD10CM:N50.0
id: DOID:11994
database_cross_reference: NCI:C123259
in_subset: NCIthesaurus
imported from: doid.owl

spermatic cord torsion
type: Class
subclass of: testicular disease
database_cross_reference: SNOMEDCT_US_2020_03_01:198046000
database_cross_reference: ICD10CM:N44.02
database_cross_reference: UMLS_CUI:C0037856
database_cross_reference: NCI:C26885
id: DOID:11996
database_cross_reference: ICD9CM:608.2
database_cross_reference: OMIM:187400
database_cross_reference: MESH:D013086
has_exact_synonym: Torsion of testicle
has_exact_synonym: Torsion of testis
has_obo_namespace: disease_ontology
has_exact_synonym: testicular Torsion
in_subset: NCIthesaurus
imported from: doid.owl

spermatocele
type: Class
subclass of: male reproductive system disease
database_cross_reference: UMLS_CUI:C0037859
database_cross_reference: NCI:C120909
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:608.1
database_cross_reference: ICD10CM:N43.4
id: DOID:11997
database_cross_reference: MESH:D013088
database_cross_reference: SNOMEDCT_US_2020_03_01:155936007
in_subset: NCIthesaurus
imported from: doid.owl

female reproductive organ cancer
type: Class
subclass of: reproductive organ cancer
subclass of: female reproductive system disease
database_cross_reference: UMLS_CUI:C0153585
database_cross_reference: SNOMEDCT_US_2020_03_01:188207007
id: DOID:120
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4913
database_cross_reference: SNOMEDCT_US_2020_03_01:126907002
database_cross_reference: NCI:C3053
has_alternative_id: DOID:1281
database_cross_reference: UMLS_CUI:C0699889
database_cross_reference: MESH:D005833
database_cross_reference: ICD10CM:C57
has_alternative_id: DOID:1244
database_cross_reference: ICD9CM:184
definition: A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.
database_cross_reference: UMLS_CUI:C0017416
has_exact_synonym: female reproductive cancer
has_exact_synonym: malignant Gynecologic tumor
has_exact_synonym: malignant neoplasm of female genital organ
in_subset: NCIthesaurus
imported from: doid.owl

anterior ischemic optic neuropathy
type: Class
subclass of: optic nerve disease
database_cross_reference: ICD9CM:377.41
database_cross_reference: MESH:D018917
id: DOID:12010
has_exact_synonym: Ischemic optic neuropathy
database_cross_reference: SNOMEDCT_US_2020_03_01:14357004
database_cross_reference: UMLS_CUI:C0155305
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H47.01
database_cross_reference: GARD:9790
imported from: doid.owl

Conn's syndrome
type: Class
subclass of: adrenal adenoma
database_cross_reference: SNOMEDCT_US_2020_03_01:13536004
database_cross_reference: GARD:7456
database_cross_reference: ICD9CM:255.12
database_cross_reference: ICD10CM:E26.01
has_obo_namespace: disease_ontology
definition: An adrenal adenoma characterized by the over production of aldosterone.
has_exact_synonym: Conn syndrome
database_cross_reference: MESH:D006929
database_cross_reference: UMLS_CUI:C1384514
database_cross_reference: NCI:C34510
id: DOID:12028
has_exact_synonym: primary aldosteronism
has_exact_synonym: primary hyperaldosteronism
in_subset: NCIthesaurus
imported from: doid.owl

drug-induced mental disorder
type: Class
subclass of: substance-induced psychosis
database_cross_reference: ICD9CM:292.8
id: DOID:1203
database_cross_reference: UMLS_CUI:C0154325
has_obo_namespace: disease_ontology
imported from: doid.owl

panuveitis
type: Class
subclass of: uveitis
database_cross_reference: UMLS_CUI:C0030343
id: DOID:12030
database_cross_reference: NCI:C84989
database_cross_reference: GARD:8577
definition: An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.
has_exact_synonym: Diffuse uveitis
database_cross_reference: SNOMEDCT_US_2020_03_01:75614007
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H44.11
database_cross_reference: ICD9CM:360.12
database_cross_reference: MESH:D015864
in_subset: NCIthesaurus
imported from: doid.owl

allergic disease
type: Class
subclass of: immune system disease
IEDB alternative term: allergic disease
database_cross_reference: UMLS_CUI:C0020517
database_cross_reference: ICD10CM:T78.40
id: DOID:1205
database_cross_reference: MESH:D006967
database_cross_reference: NCI:C3114
database_cross_reference: SNOMEDCT_US_2020_03_01:257550005
definition: An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
has_exact_synonym: allergic hypersensitivity disease
has_obo_namespace: disease_ontology
has_exact_synonym: hypersensitivity
has_exact_synonym: hypersensitivity reaction type I disease
in_subset: NCIthesaurus
imported from: doid.owl

cryptococcosis
type: Class
subclass of: opportunistic mycosis
definition: An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2967
database_cross_reference: SNOMEDCT_US_2020_03_01:42386007
database_cross_reference: ICD9CM:117.5
database_cross_reference: UMLS_CUI:C0010414
database_cross_reference: ICD10CM:B45
database_cross_reference: GARD:6218
id: DOID:12053
has_exact_synonym: Busse-Buschke's disease
has_exact_synonym: European cryptococcosis
database_cross_reference: MESH:D003453
has_exact_synonym: cryptococcal infection
has_related_synonym: cryptococcus neoformans infection
has_exact_synonym: torula
has_exact_synonym: torulosis
in_subset: NCIthesaurus
imported from: doid.owl

Rett syndrome
type: Class
subclass of: pervasive developmental disorder
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C75488
database_cross_reference: ICD10CM:F84.2
definition: A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
database_cross_reference: MESH:D015518
database_cross_reference: GARD:5696
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:192583003
database_cross_reference: OMIM:312750
database_cross_reference: UMLS_CUI:C0035372
id: DOID:1206
database_cross_reference: OMIM:613454
has_exact_synonym: Rett's disorder
has_exact_synonym: cerebroatrophic hyperammonemia
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

trigeminal neuralgia
type: Class
subclass of: trigeminal nerve disease
database_cross_reference: SNOMEDCT_US_2020_03_01:155066002
database_cross_reference: MESH:D014277
database_cross_reference: ICD9CM:350.1
database_cross_reference: GARD:7805
database_cross_reference: OMIM:190400
database_cross_reference: ICD10CM:G50.0
database_cross_reference: UMLS_CUI:C0040997
id: DOID:12098
comment: OMIM mapping confirmed by DO. [LS].
has_exact_synonym: Trifacial neuralgia
has_exact_synonym: Trigeminal neuralgia
has_obo_namespace: disease_ontology
has_exact_synonym: trifocal neuralgia
imported from: doid.owl

vaginal disease
type: Class
subclass of: female reproductive system disease
definition: A female reproductive system disease that is located_in the vagina.
id: DOID:121
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0042251
database_cross_reference: SNOMEDCT_US_2020_03_01:25658005
database_cross_reference: MESH:D014623
database_cross_reference: NCI:C26910
in_subset: NCIthesaurus
imported from: doid.owl

optic neuritis
type: Class
subclass of: optic nerve disease
definition: An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
database_cross_reference: UMLS_CUI:C0029134
database_cross_reference: SNOMEDCT_US_2020_03_01:194051001
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H46
database_cross_reference: GARD:7320
database_cross_reference: NCI:C84950
database_cross_reference: MESH:D009902
database_cross_reference: ICD9CM:377.3
id: DOID:1210
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary alveolar microlithiasis
type: Class
subclass of: lung disease
database_cross_reference: UMLS_CUI:C0155912
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:265100
definition: A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:J84.02
database_cross_reference: GARD:11894
id: DOID:12117
database_cross_reference: ICD9CM:516.2
database_cross_reference: MESH:C562405
database_cross_reference: SNOMEDCT_US_2020_03_01:196160008
imported from: doid.owl

hemosiderosis
type: Class
subclass of: iron metabolism disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0019114
database_cross_reference: GARD:6595
database_cross_reference: NCI:C82892
database_cross_reference: SNOMEDCT_US_2020_03_01:39011001
id: DOID:12119
database_cross_reference: MESH:D006486
definition: An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
has_exact_synonym: haemosiderosis
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary alveolar proteinosis
type: Class
subclass of: lung disease
database_cross_reference: OMIM:300770
database_cross_reference: ICD9CM:516.0
database_cross_reference: OMIM:265120
database_cross_reference: SNOMEDCT_US_2020_03_01:10501004
id: DOID:12120
database_cross_reference: OMIM:614370
definition: A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
database_cross_reference: UMLS_CUI:C0034050
database_cross_reference: NCI:C85037
database_cross_reference: ICD10CM:J84.01
has_obo_namespace: disease_ontology
comment: Xref MGI.
database_cross_reference: ORDO:264675
database_cross_reference: MESH:D011649
database_cross_reference: OMIM:610921
database_cross_reference: OMIM:610913
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

granulomatosis with polyangiitis
type: Class
subclass of: autoimmune disease of blood
subclass of: skin disease
subclass of: kidney disease
subclass of: lung disease
database_cross_reference: NCI:C3444
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:608710
id: DOID:12132
database_cross_reference: MESH:D014890
database_cross_reference: SNOMEDCT_US_2020_03_01:195353004
database_cross_reference: ICD10CM:M31.3
database_cross_reference: ICD9CM:446.4
database_cross_reference: GARD:7880
definition: An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
has_exact_synonym: Necrotizing respiratory granulomatosis
database_cross_reference: UMLS_CUI:C3495801
has_exact_synonym: Wegener granulomatosis, formerly
in_subset: NCIthesaurus
imported from: doid.owl

factor VIII deficiency
type: Class
subclass of: X-linked recessive disease
subclass of: blood coagulation disease
database_cross_reference: GARD:6591
has_exact_synonym: Congenital factor VIII disorder
database_cross_reference: ORDO:98878
definition: A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
database_cross_reference: NCI:C27146
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D006467
database_cross_reference: OMIM:306700
database_cross_reference: ICD10CM:D66
database_cross_reference: UMLS_CUI:C0019069
id: DOID:12134
has_exact_synonym: Hemophilia A
database_cross_reference: ICD9CM:286.0
has_exact_synonym: Subhemophilia
has_exact_synonym: classic hemophilia A
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:28293008
in_subset: NCIthesaurus
imported from: doid.owl

dysthymic disorder
type: Class
subclass of: mood disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:192384008
database_cross_reference: ICD10CM:F34.1
database_cross_reference: ICD9CM:300.4
definition: A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.
database_cross_reference: MESH:D019263
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34562
id: DOID:12139
database_cross_reference: UMLS_CUI:C0013415
has_exact_synonym: dysthymia
in_subset: NCIthesaurus
imported from: doid.owl

Chagas disease
type: Class
subclass of: trypanosomiasis
database_cross_reference: ICD9CM:086.2
has_alternative_id: DOID:0050016
has_alternative_id: DOID:0050019
has_alternative_id: DOID:0050020
database_cross_reference: UMLS_CUI:C0007932
definition: A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.
has_related_synonym: American trypanosomiasis
has_exact_synonym: Chagas' disease
database_cross_reference: GARD:6030
has_obo_namespace: disease_ontology
id: DOID:12140
database_cross_reference: SNOMEDCT_US_2020_03_01:186817003
database_cross_reference: KEGG:05142
has_exact_synonym: chagas' disease with digestive system involvement
has_exact_synonym: chagas' disease with nervous system involvement
has_exact_synonym: chagas' disease with other organ involvement
in_subset: zoonotic infectious disease
imported from: doid.owl

neurogenic bladder
type: Class
subclass of: bladder disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:596.54
id: DOID:12143
database_cross_reference: NCI:C79696
database_cross_reference: SNOMEDCT_US_2020_03_01:192972000
has_exact_synonym: Neuropathic bladder
database_cross_reference: UMLS_CUI:C0005697
database_cross_reference: MESH:D001750
has_exact_synonym: neurogenic dysfunction of the urinary bladder
has_exact_synonym: neurogenic urinary bladder disorder
in_subset: NCIthesaurus
imported from: doid.owl

low compliance bladder
type: Class
subclass of: bladder disease
id: DOID:12144
database_cross_reference: UMLS_CUI:C0489967
database_cross_reference: SNOMEDCT_US_2020_03_01:9009001
database_cross_reference: ICD9CM:596.52
has_exact_synonym: Low bladder compliance
has_obo_namespace: disease_ontology
has_exact_synonym: hyperactivity of bladder
has_exact_synonym: hypertonic bladder
has_exact_synonym: hypertonicity of bladder
imported from: doid.owl

detrusor sphincter dyssynergia
type: Class
subclass of: bladder disease
database_cross_reference: ICD9CM:596.55
id: DOID:12145
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0341747
database_cross_reference: SNOMEDCT_US_2020_03_01:236655005
imported from: doid.owl

lymphocytic choriomeningitis
type: Class
subclass of: viral infectious disease
subclass of: brain disease
database_cross_reference: SNOMEDCT_US_2020_03_01:192668002
has_alternative_id: DOID:10662
id: DOID:12155
database_cross_reference: UMLS_CUI:C0024266
database_cross_reference: MESH:D008216
definition: A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting.
database_cross_reference: ICD10CM:A87.2
has_exact_synonym: LCM
has_exact_synonym: Lymphocytic choriomeningitis virus encephalomyelitis
has_exact_synonym: Lymphocytic meningitis
has_exact_synonym: Lymphocytic meningoencephalitis
has_obo_namespace: disease_ontology
in_subset: zoonotic infectious disease
imported from: doid.owl

peripheral retinal degeneration
type: Class
subclass of: retinal degeneration
database_cross_reference: SNOMEDCT_US_2020_03_01:193393004
id: DOID:12161
database_cross_reference: NCI:C34919
database_cross_reference: ICD10CM:H35.4
database_cross_reference: UMLS_CUI:C1320640
database_cross_reference: ICD9CM:362.6
has_obo_namespace: disease_ontology
has_exact_synonym: peripheral degeneration of retina
in_subset: NCIthesaurus
imported from: doid.owl

ulnar nerve lesion
type: Class
subclass of: mononeuritis of upper limb and mononeuritis multiplex
database_cross_reference: ICD9CM:354.2
id: DOID:12168
database_cross_reference: ICD10CM:G56.2
has_exact_synonym: Lesion of ulnar nerve
database_cross_reference: UMLS_CUI:C1288279
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:55802003
imported from: doid.owl

carpal tunnel syndrome
type: Class
subclass of: nerve compression syndrome
database_cross_reference: ICD10CM:G56.0
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:115430
database_cross_reference: MESH:D002349
database_cross_reference: SNOMEDCT_US_2020_03_01:193126005
id: DOID:12169
has_exact_synonym: Median nerve entrapment
database_cross_reference: UMLS_CUI:C0007286
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34450
has_exact_synonym: CTS - Carpal tunnel syndrome
has_exact_synonym: Carpal tunnel syndrome
database_cross_reference: ICD9CM:354.0
has_exact_synonym: carpal tunnel median neuropathy
in_subset: NCIthesaurus
imported from: doid.owl

dyshormonogenic goiter
type: Class
subclass of: goiter
id: DOID:12175
has_exact_synonym: Dyshormonogenic goiter
has_exact_synonym: Dyshormonogenic goitre
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:246.1
database_cross_reference: SNOMEDCT_US_2020_03_01:190304001
database_cross_reference: UMLS_CUI:C0152077
database_cross_reference: ICD10CM:E07.1
has_exact_synonym: dyshormonogenic goitre
imported from: doid.owl

goiter
type: Class
subclass of: thyroid gland disease
database_cross_reference: NCI:C26785
database_cross_reference: SNOMEDCT_US_2020_03_01:237568003
id: DOID:12176
database_cross_reference: MESH:D006042
database_cross_reference: ICD9CM:240.9
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E04.9
definition: A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
database_cross_reference: UMLS_CUI:C0018021
has_exact_synonym: goitre
in_subset: NCIthesaurus
imported from: doid.owl

common variable immunodeficiency
type: Class
subclass of: agammaglobulinemia
subclass of: autoimmune disease
id: DOID:12177
database_cross_reference: OMIM:614699
database_cross_reference: OMIM:615767
database_cross_reference: OMIM:240500
definition: An agammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells.
database_cross_reference: UMLS_CUI:C0009447
database_cross_reference: ICD10CM:D83
database_cross_reference: OMIM:607594
database_cross_reference: GARD:6140
database_cross_reference: OMIM:613493
database_cross_reference: MESH:D017074
database_cross_reference: OMIM:613494
database_cross_reference: OMIM:613495
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:613496
database_cross_reference: SNOMEDCT_US_2020_03_01:191010004
database_cross_reference: OMIM:615577
database_cross_reference: OMIM:614700
has_exact_synonym: CVID
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:279.06
database_cross_reference: ORDO:1572
has_exact_synonym: acquired agammaglobulinemia
has_exact_synonym: acquired hypogammaglobulinemia
has_exact_synonym: common variable agammaglobulinemia
has_exact_synonym: sporadic hypogammaglobulinemia
in_subset: DO rare slim
imported from: doid.owl

otosclerosis
type: Class
subclass of: inner ear disease
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:605727
database_cross_reference: ICD9CM:387.8
database_cross_reference: OMIM:612096
id: DOID:12185
database_cross_reference: OMIM:608484
database_cross_reference: UMLS_CUI:C0029696
database_cross_reference: OMIM:166800
database_cross_reference: OMIM:615589
comment: Xref MGI.
definition: An otitis interna characterized by an abnormal bone growth in the middle ear.
database_cross_reference: SNOMEDCT_US_2020_03_01:194382008
database_cross_reference: OMIM:611571
database_cross_reference: ORDO:2794
database_cross_reference: OMIM:611572
database_cross_reference: ICD10CM:H80.80
database_cross_reference: OMIM:608244
database_cross_reference: EFO:0004213
in_subset: DO rare slim
imported from: doid.owl

sigmoid colon cancer
type: Class
subclass of: colon cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:94006002
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0153436
has_exact_synonym: Ca sigmoid colon
id: DOID:12192
database_cross_reference: ICD10CM:C18.7
database_cross_reference: ICD9CM:153.3
database_cross_reference: MESH:D012811
has_exact_synonym: malignant tumor of sigmoid colon
imported from: doid.owl

punctate epithelial keratoconjunctivitis
type: Class
subclass of: keratoconjunctivitis
database_cross_reference: ICD9CM:370.21
id: DOID:12197
database_cross_reference: ICD10CM:H16.14
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0259799
database_cross_reference: SNOMEDCT_US_2020_03_01:193767008
has_exact_synonym: Punctate keratitis
has_exact_synonym: Thygeson superficial punctate keratitis
has_exact_synonym: Thygeson's superficial punctate keratitis
imported from: doid.owl

dengue disease
type: Class
subclass of: viral infectious disease
database_cross_reference: MESH:D003715
definition: A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.
has_alternative_id: DOID:0050142
database_cross_reference: NCI:C34528
id: DOID:12205
database_cross_reference: UMLS_CUI:C0011311
has_exact_synonym: Dengue Fever
database_cross_reference: ICD10CM:A90
database_cross_reference: SNOMEDCT_US_2020_03_01:38362002
database_cross_reference: ICD9CM:061
database_cross_reference: GARD:6254
has_exact_synonym: breakbone fever
has_exact_synonym: classic dengue
has_related_synonym: classical dengue
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

oligohydramnios
type: Class
subclass of: placenta disease
database_cross_reference: ICD10CM:O41.0
database_cross_reference: NCI:C92839
has_alternative_id: DOID:12595
database_cross_reference: SNOMEDCT_US_2020_03_01:157051001
has_alternative_id: DOID:12596
database_cross_reference: ICD9CM:658.0
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D016104
id: DOID:12215
database_cross_reference: UMLS_CUI:C0079924
definition: A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
has_exact_synonym: Oligohydramnios - delivered
has_exact_synonym: antepartum oligohydramnios
has_exact_synonym: delivered oligohydramnios
in_subset: NCIthesaurus
imported from: doid.owl

Lewy body dementia
type: Class
subclass of: dementia
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84826
id: DOID:12217
database_cross_reference: SNOMEDCT_US_2020_03_01:192808003
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:331.82
database_cross_reference: GARD:3243
definition: A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.
has_exact_synonym: Dementia with Lewy bodies
database_cross_reference: ICD10CM:G31.83
has_exact_synonym: Lewy body disease
database_cross_reference: UMLS_CUI:C0752347
database_cross_reference: OMIM:127750
has_exact_synonym: Diffuse Lewy body disease
database_cross_reference: MESH:D020961
has_exact_synonym: Senile dementia of the Lewy body type
in_subset: NCIthesaurus
imported from: doid.owl

cartilage disease
type: Class
subclass of: connective tissue disease
database_cross_reference: UMLS_CUI:C0007302
database_cross_reference: SNOMEDCT_US_2020_03_01:50927007
definition: A connective tissue disease that is located_in cartilage.
has_exact_synonym: Cartilage disorder
has_exact_synonym: Chondropathy
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:M94.9
id: DOID:1222
database_cross_reference: MESH:D002357
imported from: doid.owl

cascade stomach
type: Class
subclass of: stomach disease
database_cross_reference: ICD9CM:537.6
database_cross_reference: ICD10CM:K31.2
id: DOID:12234
has_exact_synonym: Hourglass stricture or stenosis of stomach
database_cross_reference: SNOMEDCT_US_2020_03_01:54051005
database_cross_reference: UMLS_CUI:C0267183
has_obo_namespace: disease_ontology
imported from: doid.owl

primary biliary cholangitis
type: Class
subclass of: autoimmune disease of gastrointestinal tract
subclass of: liver cirrhosis
database_cross_reference: ORDO:186
database_cross_reference: UMLS_CUI:C0008312
database_cross_reference: OMIM:613008
database_cross_reference: OMIM:613007
database_cross_reference: OMIM:109720
database_cross_reference: UMLS_CUI:C0023892
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_alternative_id: DOID:1851
database_cross_reference: SNOMEDCT_US_2020_03_01:31712002
database_cross_reference: EFO:0004267
database_cross_reference: NCI:C27167
database_cross_reference: SNOMEDCT_US_2020_03_01:1761006
database_cross_reference: ICD10CM:K74.3
database_cross_reference: ICD9CM:571.6
database_cross_reference: ICD10CM:K74.5
database_cross_reference: OMIM:614221
definition: A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
database_cross_reference: OMIM:614220
has_exact_synonym: chronic nonsuppurative destructive cholangitis
has_obo_namespace: disease_ontology
has_exact_synonym: primary biliary cirrhosis
database_cross_reference: MESH:D008105
database_cross_reference: GARD:7459
id: DOID:12236
database_cross_reference: NCI:C51225
has_exact_synonym: biliary liver cirrhosis
has_exact_synonym: cholestatic cirrhosis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

bile reflux
type: Class
subclass of: biliary tract disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0005403
id: DOID:12237
database_cross_reference: MESH:D001655
imported from: doid.owl

testicular lymphoma
type: Class
subclass of: lymphoma
subclass of: testicular cancer
database_cross_reference: UMLS_CUI:C0349644
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6810
database_cross_reference: SNOMEDCT_US_2020_03_01:277664004
id: DOID:12253
has_exact_synonym: lymphoma of the testis
has_exact_synonym: malignant lymphoma of testis
has_exact_synonym: testicular Lymphoma
in_subset: NCIthesaurus
imported from: doid.owl

hemophilia B
type: Class
subclass of: X-linked recessive disease
subclass of: blood coagulation disease
has_exact_synonym: Congenital factor IX deficiency
database_cross_reference: UMLS_CUI:C0008533
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:D67
database_cross_reference: GARD:8732
definition: A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
has_exact_synonym: Congenital factor IX disorder
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002836
database_cross_reference: ICD9CM:286.1
id: DOID:12259
database_cross_reference: SNOMEDCT_US_2020_03_01:41788008
database_cross_reference: NCI:C26721
database_cross_reference: OMIM:306900
has_exact_synonym: deficiency, functional factor IX
has_exact_synonym: factor IX deficiency
in_subset: NCIthesaurus
imported from: doid.owl

neutropenia
type: Class
subclass of: agranulocytosis
database_cross_reference: ICD10CM:D70
database_cross_reference: UMLS_CUI:C0027947
database_cross_reference: SNOMEDCT_US_2020_03_01:191336001
database_cross_reference: ICD9CM:288.0
id: DOID:1227
database_cross_reference: MESH:D009503
has_obo_namespace: disease_ontology
imported from: doid.owl

coloboma
type: Class
subclass of: eye disease
id: DOID:12270
database_cross_reference: MESH:D003103
database_cross_reference: ORDO:98945
database_cross_reference: SNOMEDCT_US_2020_03_01:93390002
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:120200
database_cross_reference: OMIM:120300
definition: An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
has_exact_synonym: coloboInOwlma of eye
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C98877
database_cross_reference: ORDO:194
database_cross_reference: OMIM:216820
database_cross_reference: ICD10CM:Q13.0
database_cross_reference: UMLS_CUI:C0009363
database_cross_reference: GARD:1433
has_exact_synonym: coloboInOwlma of macula
has_exact_synonym: congenital ocular coloboInOwlma
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

aniridia
type: Class
subclass of: iris disease
database_cross_reference: SNOMEDCT_US_2020_03_01:69278003
database_cross_reference: UMLS_CUI:C0003076
database_cross_reference: OMIM:106210
database_cross_reference: NCI:C84563
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015783
definition: An iris disease that is characterized by a complete or partial absence of the colored part of the eye.
has_exact_synonym: Aplasia of iris
id: DOID:12271
database_cross_reference: ICD9CM:743.45
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:5816
database_cross_reference: ICD10CM:Q13.1
in_subset: NCIthesaurus
imported from: doid.owl

anisometropia
type: Class
subclass of: refractive error
database_cross_reference: SNOMEDCT_US_2020_03_01:3289004
database_cross_reference: ICD10CM:H52.31
database_cross_reference: ICD9CM:367.31
database_cross_reference: MESH:D015858
database_cross_reference: UMLS_CUI:C0003081
id: DOID:12273
has_obo_namespace: disease_ontology
imported from: doid.owl

testicular leukemia
type: Class
subclass of: testicular cancer
database_cross_reference: UMLS_CUI:C1336711
database_cross_reference: NCI:C9277
id: DOID:12286
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

Crimean-Congo hemorrhagic fever
type: Class
subclass of: viral infectious disease
database_cross_reference: NCI:C34682
id: DOID:12287
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.
database_cross_reference: ICD10CM:A98.0
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:065.0
has_exact_synonym: CHF Congo virus
has_exact_synonym: Congo-Crimean Hemorrhagic Fever
has_exact_synonym: Crimean hemorrhagic fever
database_cross_reference: UMLS_CUI:C0019099
database_cross_reference: MESH:D006479
database_cross_reference: SNOMEDCT_US_2020_03_01:43489008
in_subset: NCIthesaurus
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

Vogt-Koyanagi-Harada disease
type: Class
subclass of: autoimmune disease of skin and connective tissue
id: DOID:12297
database_cross_reference: ICD9CM:364.24
database_cross_reference: UMLS_CUI:C0042170
database_cross_reference: SNOMEDCT_US_2020_03_01:44923005
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7862
database_cross_reference: NCI:C85218
database_cross_reference: ICD10CM:H20.82
definition: An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.
database_cross_reference: MESH:D014607
has_exact_synonym: Harada's disease
has_exact_synonym: Vogt-Koyanagi syndrome
has_exact_synonym: uveomeningoencephalitic syndrome
in_subset: NCIthesaurus
imported from: doid.owl

vitiligo
type: Class
subclass of: autoimmune disease of skin and connective tissue
database_cross_reference: OMIM:193200
database_cross_reference: ICD9CM:709.01
database_cross_reference: ICD10CM:L80
database_cross_reference: UMLS_CUI:C0042900
database_cross_reference: GARD:10751
definition: An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
database_cross_reference: MESH:D014820
id: DOID:12306
database_cross_reference: EFO:0004208
database_cross_reference: NCI:C26915
database_cross_reference: SNOMEDCT_US_2020_03_01:156437000
comment: OMIM mapping confirmed by DO. [LS].
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

Dubin-Johnson syndrome
type: Class
subclass of: bilirubin metabolic disorder
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34741
database_cross_reference: UMLS_CUI:C0022350
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:6289
database_cross_reference: OMIM:237500
database_cross_reference: MESH:D007566
database_cross_reference: ICD10CM:E80.6
id: DOID:12308
definition: A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.
database_cross_reference: SNOMEDCT_US_2020_03_01:44553005
has_exact_synonym: Dubin Johnson syndrome
has_exact_synonym: chronic idiopathic jaundice
in_subset: NCIthesaurus
imported from: doid.owl

granular corneal dystrophy
type: Class
subclass of: autosomal dominant disease
subclass of: epithelial-stromal TGFBI dystrophy
database_cross_reference: UMLS_CUI:C0018179
definition: An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.
database_cross_reference: MESH:D003317
database_cross_reference: ICD9CM:371.53
id: DOID:12318
database_cross_reference: ICD10CM:H18.53
database_cross_reference: SNOMEDCT_US_2020_03_01:45283008
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34651
has_exact_synonym: granular corneal dystrophy
in_subset: NCIthesaurus
imported from: doid.owl

chronic pulmonary heart disease
type: Class
subclass of: Cor pulmonale
id: DOID:12326
database_cross_reference: ICD9CM:416.8
database_cross_reference: UMLS_CUI:C0155673
database_cross_reference: SNOMEDCT_US_2020_03_01:194887007
has_obo_namespace: disease_ontology
imported from: doid.owl

transvestism
type: Class
subclass of: fetishism
database_cross_reference: SNOMEDCT_US_2020_03_01:472948001
database_cross_reference: UMLS_CUI:C0040774
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:F64.1
database_cross_reference: NCI:C94359
id: DOID:1233
has_exact_synonym: Fetishistic transvestism
database_cross_reference: MESH:D014190
database_cross_reference: ICD9CM:302.3
has_exact_synonym: Dual-role transvestism
has_exact_synonym: Transvestic fetishism
has_exact_synonym: cross dresser
in_subset: NCIthesaurus
imported from: doid.owl

male infertility
type: Class
subclass of: male reproductive system disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:606
id: DOID:12336
database_cross_reference: MESH:D007248
database_cross_reference: ICD10CM:N46
database_cross_reference: SNOMEDCT_US_2020_03_01:155924001
database_cross_reference: UMLS_CUI:C0021364
imported from: doid.owl

varicocele
type: Class
subclass of: pelvic varices
database_cross_reference: ICD9CM:456.4
id: DOID:12337
database_cross_reference: UMLS_CUI:C0042341
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:I86.1
database_cross_reference: MESH:D014646
database_cross_reference: SNOMEDCT_US_2020_03_01:195480007
has_exact_synonym: Scrotal varices
imported from: doid.owl

gender identity disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as.
database_cross_reference: ICD9CM:302.6
database_cross_reference: ICD10CM:F64.2
database_cross_reference: SNOMEDCT_US_2020_03_01:5095008
has_obo_namespace: disease_ontology
id: DOID:1234
database_cross_reference: UMLS_CUI:C0236802
imported from: doid.owl

retroperitoneal sarcoma
type: Class
subclass of: retroperitoneal cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:307219002
definition: A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.
id: DOID:12341
database_cross_reference: NCI:C4832
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0585129
in_subset: NCIthesaurus
imported from: doid.owl

osteogenesis imperfecta
type: Class
subclass of: osteochondrodysplasia
database_cross_reference: NCI:C26837
database_cross_reference: SNOMEDCT_US_2020_03_01:78314001
database_cross_reference: ORDO:666
database_cross_reference: OMIM:PS166200
database_cross_reference: UMLS_CUI:C0029434
database_cross_reference: GARD:1017
database_cross_reference: ICD10CM:Q78.0
database_cross_reference: ICD9CM:756.51
has_obo_namespace: disease_ontology
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
has_alternative_id: DOID:14708
id: DOID:12347
has_related_synonym: Fragilitas ossium
has_exact_synonym: Lobstein's syndrome
database_cross_reference: MESH:D010013
has_exact_synonym: Osteopsathyrosis
has_exact_synonym: Vrolik's disease
has_exact_synonym: brittle bone disease
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

fetishism
type: Class
subclass of: paraphilia disorder
database_cross_reference: MESH:D005329
id: DOID:1235
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C94353
database_cross_reference: ICD9CM:302.81
database_cross_reference: ICD10CM:F65.0
database_cross_reference: SNOMEDCT_US_2020_03_01:192513009
database_cross_reference: UMLS_CUI:C0015957
in_subset: NCIthesaurus
imported from: doid.owl

alcoholic hepatitis
type: Class
subclass of: hepatitis
database_cross_reference: ICD9CM:571.1
database_cross_reference: SNOMEDCT_US_2020_03_01:9953008
has_exact_synonym: Alcoholic Hepatitis
has_exact_synonym: Alcoholic hepatitis
id: DOID:12351
has_alternative_id: DOID:12350
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34352
database_cross_reference: UMLS_CUI:C0001306
has_exact_synonym: acute Alcoholic Hepatitis
has_exact_synonym: acute alcoholic hepatitis
has_exact_synonym: acute alcoholic liver disease
in_subset: NCIthesaurus
imported from: doid.owl

patulous eustachian tube
type: Class
subclass of: eustachian tube disease
definition: A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.
database_cross_reference: SNOMEDCT_US_2020_03_01:30280005
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:381.7
database_cross_reference: GARD:10812
database_cross_reference: UMLS_CUI:C0155434
database_cross_reference: ICD10CM:H69.0
id: DOID:12358
imported from: doid.owl

Graves' disease
type: Class
subclass of: autoimmune disease of endocrine system
database_cross_reference: SNOMEDCT_US_2020_03_01:154655004
has_obo_namespace: disease_ontology
definition: An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
database_cross_reference: EFO:0004237
database_cross_reference: UMLS_CUI:C0018213
has_related_synonym: Basedow's disease
id: DOID:12361
has_exact_synonym: Grave's disease
has_exact_synonym: Graves disease
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D006111
database_cross_reference: NCI:C3071
database_cross_reference: ICD10CM:E05.0
has_exact_synonym: exophthalmic goiter
in_subset: NCIthesaurus
imported from: doid.owl

malaria
type: Class
subclass of: parasitic protozoa infectious disease
has_alternative_id: DOID:12552
database_cross_reference: SNOMEDCT_US_2020_03_01:154374002
id: DOID:12365
database_cross_reference: NCI:C34797
definition: A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
database_cross_reference: ICD10CM:B54
comment: Xref MGI.
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:084
database_cross_reference: GARD:6961
database_cross_reference: UMLS_CUI:C0024530
database_cross_reference: EFO:0001068
database_cross_reference: MESH:D008288
has_exact_synonym: induced malaria
in_subset: NCIthesaurus
imported from: doid.owl

corneal degeneration
type: Class
subclass of: corneal disease
subclass of: eye degenerative disease
database_cross_reference: ICD10CM:H18.4
id: DOID:1237
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:111521006
database_cross_reference: ICD9CM:371.4
database_cross_reference: UMLS_CUI:C0155118
imported from: doid.owl

bronchopneumonia
type: Class
subclass of: pneumonia
database_cross_reference: MESH:D001996
database_cross_reference: NCI:C26710
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0006285
database_cross_reference: ICD10CM:J18.0
definition: A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
has_exact_synonym: Chest infection - bronchopneumonia
id: DOID:12375
database_cross_reference: SNOMEDCT_US_2020_03_01:155551009
database_cross_reference: ICD9CM:485
has_exact_synonym: bronchial pneumonia
has_exact_synonym: lobular pneumonia
in_subset: NCIthesaurus
imported from: doid.owl

spinal muscular atrophy
type: Class
subclass of: motor neuron disease
has_obo_namespace: disease_ontology
id: DOID:12377
database_cross_reference: SNOMEDCT_US_2020_03_01:5262007
database_cross_reference: ICD9CM:335.1
database_cross_reference: GARD:7674
database_cross_reference: MESH:D009134
database_cross_reference: UMLS_CUI:C0026847
database_cross_reference: ICD10CM:G12.9
database_cross_reference: NCI:C85075
definition: A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

complex partial epilepsy
type: Class
subclass of: focal epilepsy
id: DOID:12382
has_obo_namespace: disease_ontology
has_exact_synonym: Complex partial epileptic seizure
database_cross_reference: SNOMEDCT_US_2020_03_01:307358009
database_cross_reference: MESH:D017029
database_cross_reference: UMLS_CUI:C0085417
has_exact_synonym: Psychomotor epilepsy
has_exact_synonym: epilepsy, psychomotor
has_exact_synonym: psychomotor epilepsy
imported from: doid.owl

dysentery
type: Class
subclass of: intestinal infectious disease
definition: An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood.
database_cross_reference: UMLS_CUI:C0013369
database_cross_reference: ICD9CM:009.2
database_cross_reference: MESH:D004403
database_cross_reference: SNOMEDCT_US_2020_03_01:154268000
id: DOID:12384
has_exact_synonym: Infectious diarrhea
has_obo_namespace: disease_ontology
imported from: doid.owl

shigellosis
type: Class
subclass of: primary bacterial infectious disease
subclass of: colonic disease
database_cross_reference: UMLS_CUI:C0302359
database_cross_reference: SNOMEDCT_US_2020_03_01:111817006
database_cross_reference: UMLS_CUI:C0302358
definition: A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.
id: DOID:12385
database_cross_reference: MESH:D004405
has_alternative_id: DOID:11378
database_cross_reference: UMLS_CUI:C0302360
database_cross_reference: SNOMEDCT_US_2020_03_01:66301008
database_cross_reference: ICD9CM:004
database_cross_reference: ICD9CM:004.2
database_cross_reference: ICD9CM:004.1
database_cross_reference: UMLS_CUI:C0013371
database_cross_reference: NCI:C157978
database_cross_reference: ICD9CM:004.0
has_alternative_id: DOID:925
has_alternative_id: DOID:924
has_alternative_id: DOID:2041
database_cross_reference: GARD:4818
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:55760004
database_cross_reference: ICD10CM:A03
database_cross_reference: SNOMEDCT_US_2020_03_01:34335000
has_alternative_id: DOID:12950
database_cross_reference: ICD10CM:A03.0
database_cross_reference: ICD10CM:A03.2
database_cross_reference: KEGG:05131
database_cross_reference: ICD10CM:A03.1
has_exact_synonym: Shigella boydii infectious disease
has_exact_synonym: Shigella flexneri infectious disease
has_exact_synonym: Shigella gastroenteritis
has_exact_synonym: Shigella sonnei infectious disease
has_exact_synonym: bacillary dysentery
imported from: doid.owl

nephrogenic diabetes insipidus
type: Class
subclass of: kidney disease
database_cross_reference: ICD10CM:N25.1
database_cross_reference: OMIM:304800
definition: A kidney disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
id: DOID:12387
database_cross_reference: MESH:D018500
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference: SNOMEDCT_US_2020_03_01:123294004
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7178
database_cross_reference: ORDO:223
database_cross_reference: ICD9CM:588.1
database_cross_reference: OMIM:125800
database_cross_reference: UMLS_CUI:C0162283
database_cross_reference: NCI:C84919
has_related_synonym: vasopressin-resistant diabetes insipidus
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

neurohypophyseal diabetes insipidus
type: Class
subclass of: pancreas disease
database_cross_reference: SNOMEDCT_US_2020_03_01:267393007
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0687720
database_cross_reference: OMIM:125700
id: DOID:12388
database_cross_reference: NCI:C84933
database_cross_reference: MESH:D020790
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:304900
has_exact_synonym: Pituitary diabetes insipidus
has_exact_synonym: Vasopressin deficiency
has_exact_synonym: central diabetes insipidus
has_exact_synonym: vasopressin defective diabetes insipidus
in_subset: NCIthesaurus
imported from: doid.owl

entropion
type: Class
subclass of: eyelid disease
has_alternative_id: DOID:14446
database_cross_reference: MESH:D004774
database_cross_reference: SNOMEDCT_US_2020_03_01:246821008
has_obo_namespace: disease_ontology
id: DOID:12397
database_cross_reference: UMLS_CUI:C0014390
database_cross_reference: ICD9CM:374.00
imported from: doid.owl

pathological gambling
type: Class
subclass of: impulse control disorder
database_cross_reference: ICD10CM:F63.0
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0030662
id: DOID:12399
has_exact_synonym: Compulsive gambling
database_cross_reference: OMIM:606349
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D005715
database_cross_reference: ICD9CM:312.31
database_cross_reference: SNOMEDCT_US_2020_03_01:18085000
database_cross_reference: NCI:C94335
definition: An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
has_exact_synonym: Pathological gambling
in_subset: NCIthesaurus
imported from: doid.owl

leukemia
type: Class
subclass of: hematologic cancer
id: DOID:1240
definition: A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
database_cross_reference: NCI:C3161
has_alternative_id: DOID:9145
database_cross_reference: SNOMEDCT_US_2020_03_01:255049003
database_cross_reference: ICD9CM:208
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007938
database_cross_reference: ICD10CM:C95.90
database_cross_reference: UMLS_CUI:C0023418
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

kleptomania
type: Class
subclass of: impulse control disorder
definition: An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen.
database_cross_reference: NCI:C94333
database_cross_reference: ICD10CM:F63.2
database_cross_reference: ICD9CM:312.32
database_cross_reference: UMLS_CUI:C0022734
has_obo_namespace: disease_ontology
id: DOID:12400
database_cross_reference: SNOMEDCT_US_2020_03_01:69361009
database_cross_reference: MESH:D007174
has_exact_synonym: Pathological stealing
in_subset: NCIthesaurus
imported from: doid.owl

intermittent explosive disorder
type: Class
subclass of: impulse control disorder
database_cross_reference: ICD10CM:F60.3
id: DOID:12401
definition: An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:F63.81
database_cross_reference: SNOMEDCT_US_2020_03_01:192096007
database_cross_reference: UMLS_CUI:C0021776
database_cross_reference: SNOMEDCT_US_2020_03_01:268757006
database_cross_reference: ICD9CM:312.34
database_cross_reference: MESH:D007174
database_cross_reference: ICD9CM:301.3
database_cross_reference: UMLS_CUI:C0152183
database_cross_reference: NCI:C94332
has_alternative_id: DOID:9404
has_exact_synonym: explosive personality disorder
in_subset: NCIthesaurus
imported from: doid.owl

pyromania
type: Class
subclass of: impulse control disorder
definition: An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.
id: DOID:12402
database_cross_reference: MESH:D005391
database_cross_reference: SNOMEDCT_US_2020_03_01:600009
database_cross_reference: ICD10CM:F63.1
database_cross_reference: NCI:C94334
has_exact_synonym: Pathological firesetting
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0016142
database_cross_reference: ICD9CM:312.33
has_exact_synonym: firesetting behavior
in_subset: NCIthesaurus
imported from: doid.owl

tinea pedis
type: Class
subclass of: skin disease
subclass of: dermatophytosis
definition: A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot.
database_cross_reference: ICD9CM:110.4
has_exact_synonym: Athlete's foot
database_cross_reference: MESH:D014008
database_cross_reference: ICD10CM:B35.3
has_obo_namespace: disease_ontology
id: DOID:12403
has_exact_synonym: Dermatophytosis of foot
database_cross_reference: SNOMEDCT_US_2020_03_01:186993002
database_cross_reference: UMLS_CUI:C0040259
has_related_synonym: ringworm of foot
imported from: doid.owl

globe disease
type: Class
subclass of: eye disease
database_cross_reference: ICD9CM:360.29
definition: An eye disease that involves the globe of the eye.
database_cross_reference: ICD10CM:H44.39
database_cross_reference: UMLS_CUI:C0154780
database_cross_reference: SNOMEDCT_US_2020_03_01:194638007
id: DOID:1242
has_obo_namespace: disease_ontology
imported from: doid.owl

conjugate gaze palsy
type: Class
subclass of: strabismus
id: DOID:12445
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:378.81
has_exact_synonym: Palsy of conjugate gaze
database_cross_reference: SNOMEDCT_US_2020_03_01:1534008
database_cross_reference: UMLS_CUI:C0702143
imported from: doid.owl

aplastic anemia
type: Class
subclass of: anemia
database_cross_reference: SNOMEDCT_US_2020_03_01:154807001
has_obo_namespace: disease_ontology
database_cross_reference: GARD:5836
database_cross_reference: MESH:D000741
database_cross_reference: ICD9CM:284.9
database_cross_reference: NCI:C2870
definition: An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
database_cross_reference: ICD10CM:D61.9
database_cross_reference: OMIM:609135
database_cross_reference: UMLS_CUI:C0002874
id: DOID:12449
comment: OMIM mapping confirmed by DO. [SN].
in_subset: NCIthesaurus
imported from: doid.owl

vulva cancer
type: Class
subclass of: female reproductive organ cancer
subclass of: vulvar disease
database_cross_reference: MESH:D014846
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0375071
database_cross_reference: NCI:C7502
database_cross_reference: NCI:C3443
database_cross_reference: ICD9CM:184.4
database_cross_reference: ICD10CM:C51
has_alternative_id: DOID:1282
database_cross_reference: SNOMEDCT_US_2020_03_01:126922007
database_cross_reference: SNOMEDCT_US_2020_03_01:94143002
definition: A female reproductive organ cancer that is located_in the vulva.
has_exact_synonym: Ca vulva
database_cross_reference: UMLS_CUI:C0042995
id: DOID:1245
database_cross_reference: GARD:9349
has_exact_synonym: Vulvar tumor
has_exact_synonym: malignant Vulvar tumor
has_exact_synonym: malignant neoplasm of vulva
has_exact_synonym: malignant tumor of vulva
has_exact_synonym: neoplasm of vulva
has_exact_synonym: vulval cancer
has_exact_synonym: vulval neoplasm
has_exact_synonym: vulvar neoplasm
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

pancytopenia
type: Class
subclass of: anemia
definition: An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets.
id: DOID:12450
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:284.1
database_cross_reference: ICD10CM:D61.81
database_cross_reference: SNOMEDCT_US_2020_03_01:127034005
database_cross_reference: UMLS_CUI:C0030312
database_cross_reference: NCI:C34889
database_cross_reference: MESH:D010198
in_subset: NCIthesaurus
imported from: doid.owl

sulfhemoglobinemia
type: Class
subclass of: blood protein disease
id: DOID:12451
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013436
database_cross_reference: UMLS_CUI:C0038732
database_cross_reference: SNOMEDCT_US_2020_03_01:32117000
has_exact_synonym: Sulfemoglobinemia
has_exact_synonym: Sulfhemoglobinemia
imported from: doid.owl

blood coagulation disease
type: Class
subclass of: hematopoietic system disease
database_cross_reference: NCI:C2902
has_narrow_synonym: inherited blood coagulation disease
has_obo_namespace: disease_ontology
has_alternative_id: DOID:13997
has_alternative_id: DOID:2212
database_cross_reference: MESH:D001778
id: DOID:1247
definition: A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
database_cross_reference: UMLS_CUI:C0005779
database_cross_reference: ICD10CM:D68.9
database_cross_reference: ICD9CM:286
database_cross_reference: SNOMEDCT_US_2020_03_01:64779008
has_alternative_id: DOID:9474
has_exact_synonym: coagulation protein disease
has_exact_synonym: postpartum coagulation defect
has_exact_synonym: postpartum coagulation defect with delivery
in_subset: NCIthesaurus
imported from: doid.owl

capillariasis
type: Class
subclass of: liver disease
subclass of: intestinal disease
subclass of: lung disease
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: ICD10CM:B81.1
id: DOID:12474
database_cross_reference: SNOMEDCT_US_2020_03_01:52979002
database_cross_reference: MESH:D017189
definition: A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species.
database_cross_reference: UMLS_CUI:C0006897
database_cross_reference: ICD9CM:127.5
has_obo_namespace: disease_ontology
has_exact_synonym: Capillaria infection
imported from: doid.owl

Bell's palsy
type: Class
subclass of: facial paralysis
definition: A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).
has_exact_synonym: Bell's (facial) palsy
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020330
database_cross_reference: SNOMEDCT_US_2020_03_01:193093009
id: DOID:12506
has_exact_synonym: Bell palsy
database_cross_reference: UMLS_CUI:C0376175
database_cross_reference: ICD10CM:G51.0
database_cross_reference: GARD:5906
database_cross_reference: ICD9CM:351.0
imported from: doid.owl

tuberculous epididymitis
type: Class
subclass of: epididymis disease
subclass of: urogenital tuberculosis
database_cross_reference: SNOMEDCT_US_2020_03_01:83652003
definition: An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling.
id: DOID:1251
database_cross_reference: ICD9CM:016.4
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0152814
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

retinal perforation
type: Class
subclass of: retinal detachment
database_cross_reference: MESH:D012167
database_cross_reference: NCI:C50732
database_cross_reference: SNOMEDCT_US_2020_03_01:40024006
id: DOID:12514
database_cross_reference: UMLS_CUI:C0035321
has_exact_synonym: Retinal break
has_exact_synonym: Retinal dialysis
has_exact_synonym: Retinal tear
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

trichuriasis
type: Class
subclass of: intestinal disease
subclass of: parasitic helminthiasis infectious disease
id: DOID:1252
database_cross_reference: ICD10CM:B79
database_cross_reference: GARD:10720
has_obo_namespace: disease_ontology
definition: A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation.
database_cross_reference: ICD9CM:127.3
database_cross_reference: SNOMEDCT_US_2020_03_01:60570001
database_cross_reference: UMLS_CUI:C0040954
has_exact_synonym: Infection by Trichuris trichura
database_cross_reference: NCI:C128399
database_cross_reference: MESH:D014257
has_exact_synonym: Trichuriasis infection
has_exact_synonym: Whipworm disease
has_exact_synonym: trichuris trichiura infection
in_subset: NCIthesaurus
imported from: doid.owl

tarsal tunnel syndrome
type: Class
subclass of: tibial neuropathy
database_cross_reference: NCI:C85183
id: DOID:12526
database_cross_reference: SNOMEDCT_US_2020_03_01:155077008
database_cross_reference: ICD10CM:G57.5
database_cross_reference: UMLS_CUI:C0039319
database_cross_reference: ICD9CM:355.5
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013641
database_cross_reference: GARD:7733
in_subset: NCIthesaurus
imported from: doid.owl

von Willebrand's disease
type: Class
subclass of: blood coagulation disease
has_obo_namespace: disease_ontology
id: DOID:12531
database_cross_reference: ICD9CM:286.4
database_cross_reference: MESH:D014842
database_cross_reference: GARD:7867
comment: OMIM mapping confirmed by DO. [SN].
definition: A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
database_cross_reference: UMLS_CUI:C0042974
database_cross_reference: ICD10CM:D68.0
database_cross_reference: SNOMEDCT_US_2020_03_01:11093006
database_cross_reference: NCI:C68677
has_exact_synonym: vascular hemophilia
has_exact_synonym: vascular pseudohemophilia
has_exact_synonym: von Willebrand disease
has_exact_synonym: von Willebrand disorder
has_exact_synonym: von Willebrand's-Jurgens' disease
has_exact_synonym: von Willebrand-Jrgens disease
in_subset: NCIthesaurus
imported from: doid.owl

trichostrongylosis
type: Class
subclass of: trichostrongyloidiasis
database_cross_reference: ICD10CM:B81.2
definition: A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D014253
database_cross_reference: UMLS_CUI:C0040948
id: DOID:1254
database_cross_reference: ICD9CM:127.6
has_exact_synonym: Infection by Trichostrongylus
has_exact_synonym: Infection by Trichostrongylus species
database_cross_reference: SNOMEDCT_US_2020_03_01:33710003
has_exact_synonym: Trichostrongyliasis
imported from: doid.owl

hepatitis A
type: Class
subclass of: viral infectious disease
database_cross_reference: NCI:C3096
database_cross_reference: MESH:D006506
database_cross_reference: UMLS_CUI:C0019159
database_cross_reference: SNOMEDCT_US_2020_03_01:40468003
has_related_synonym: Viral hepatitis A
has_obo_namespace: disease_ontology
id: DOID:12549
has_alternative_id: DOID:12547
definition: A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
has_exact_synonym: Viral hepatitis, type A
in_subset: NCIthesaurus
imported from: doid.owl

trichostrongyloidiasis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: MESH:D014252
database_cross_reference: UMLS_CUI:C0040947
has_obo_namespace: disease_ontology
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea.
id: DOID:1255
imported from: doid.owl

hemolytic-uremic syndrome
type: Class
subclass of: kidney disease
comment: Xref MGI.
database_cross_reference: NCI:C75545
id: DOID:12554
definition: A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.
database_cross_reference: ICD9CM:283.11
database_cross_reference: UMLS_CUI:C0019061
database_cross_reference: MESH:D006463
database_cross_reference: ORDO:2134
database_cross_reference: ICD10CM:D59.3
database_cross_reference: SNOMEDCT_US_2020_03_01:123308008
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6588
has_exact_synonym: haemolytic-uraemic syndrome
has_exact_synonym: hemolytic uremic syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Duane retraction syndrome
type: Class
subclass of: strabismus
database_cross_reference: UMLS_CUI:C0013261
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:604356
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:126800
database_cross_reference: NCI:C84678
id: DOID:12557
database_cross_reference: SNOMEDCT_US_2020_03_01:60318001
database_cross_reference: ORDO:233
database_cross_reference: ICD9CM:378.71
database_cross_reference: MESH:D004370
database_cross_reference: ICD10CM:H50.81
has_exact_synonym: Duane's syndrome
has_exact_synonym: Stilling-Turk-Duane syndrome
in_subset: NCIthesaurus
imported from: doid.owl

chronic progressive external ophthalmoplegia
type: Class
subclass of: mitochondrial myopathy
database_cross_reference: MESH:D017246
database_cross_reference: GARD:4503
id: DOID:12558
database_cross_reference: UMLS_CUI:C0162674
database_cross_reference: ICD10CM:H49.4
database_cross_reference: SNOMEDCT_US_2020_03_01:194126004
database_cross_reference: OMIM:PS157640
database_cross_reference: ICD9CM:378.72
has_obo_namespace: disease_ontology
has_exact_synonym: progressive external ophthalmoplegia
imported from: doid.owl

idiopathic juvenile osteoporosis
type: Class
subclass of: osteoporosis
database_cross_reference: OMIM:259750
database_cross_reference: ICD9CM:733.02
database_cross_reference: SNOMEDCT_US_2020_03_01:3345002
definition: An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.
id: DOID:12559
has_exact_synonym: Idiopathic osteoporosis
database_cross_reference: UMLS_CUI:C0158447
has_obo_namespace: disease_ontology
has_exact_synonym: juvenile osteoporosis
imported from: doid.owl

dyscalculia
type: Class
subclass of: learning disability
definition: A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page.
database_cross_reference: MESH:D060705
has_obo_namespace: disease_ontology
id: DOID:12568
has_exact_synonym: Mathematics disorder
has_exact_synonym: disorder of arithmetical skills
imported from: doid.owl

phacogenic glaucoma
type: Class
subclass of: glaucoma
database_cross_reference: SNOMEDCT_US_2020_03_01:84333006
has_obo_namespace: disease_ontology
definition: A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss.
database_cross_reference: ICD9CM:365.59
database_cross_reference: UMLS_CUI:C0154959
id: DOID:12571
imported from: doid.owl

neonatal thyrotoxicosis
type: Class
subclass of: thyrotoxicosis
database_cross_reference: ICD9CM:775.3
database_cross_reference: NCI:C114906
id: DOID:12573
has_exact_synonym: Neonatal thyrotoxicosis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:13795004
database_cross_reference: UMLS_CUI:C0158983
database_cross_reference: ICD10CM:P72.1
in_subset: NCIthesaurus
imported from: doid.owl

urethral obstruction
type: Class
subclass of: urethral disease
database_cross_reference: UMLS_CUI:C0041972
database_cross_reference: NCI:C79804
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:95588004
id: DOID:12577
database_cross_reference: MESH:D014524
has_exact_synonym: Obstruction of urethra
in_subset: NCIthesaurus
imported from: doid.owl

Cri-Du-Chat syndrome
type: Class
subclass of: chromosomal deletion syndrome
subclass of: syndrome
database_cross_reference: GARD:6213
comment: OMIM mapping confirmed by DO. [SN].
definition: A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.
database_cross_reference: NCI:C34518
id: DOID:12580
database_cross_reference: ICD10CM:Q93.4
database_cross_reference: OMIM:123450
database_cross_reference: ICD9CM:758.31
has_exact_synonym: 5p deletion syndrome
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0010314
has_exact_synonym: 5p partial monosomy syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:70173007
database_cross_reference: MESH:D003410
has_exact_synonym: Cri-du-chat syndrome
has_exact_synonym: chromosome 5 short arm deletion syndrome
has_exact_synonym: chromosome 5p deletion syndrome
in_subset: NCIthesaurus
imported from: doid.owl

velocardiofacial syndrome
type: Class
subclass of: chromosomal deletion syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:205642004
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0220704
definition: A chromosomal deletion disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and that is characterized by variable developmental problems and schizoid features.
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: ICD10CM:Q93.81
has_exact_synonym: 22q11 Deletion Syndrome
database_cross_reference: ICD9CM:758.32
database_cross_reference: MESH:D004062
id: DOID:12583
database_cross_reference: OMIM:192430
has_exact_synonym: Shprintzen syndrome
has_exact_synonym: VCF-Velocardiofacial syndrome
has_exact_synonym: deletion 22q11.2 syndrome
imported from: doid.owl

Potter's syndrome
type: Class
subclass of: renal agenesis
database_cross_reference: SNOMEDCT_US_2020_03_01:41962002
definition: A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.
database_cross_reference: UMLS_CUI:C0178426
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C40435
database_cross_reference: GARD:4462
id: DOID:12594
database_cross_reference: ICD10CM:Q60.6
has_exact_synonym: Potter sequence
has_exact_synonym: Potter syndrome
in_subset: NCIthesaurus
imported from: doid.owl

parametritis
type: Class
subclass of: pelvic inflammatory disease
has_obo_namespace: disease_ontology
id: DOID:1260
database_cross_reference: MESH:D010249
database_cross_reference: UMLS_CUI:C0030455
database_cross_reference: SNOMEDCT_US_2020_03_01:280483007
has_exact_synonym: pelvic cellulitis
imported from: doid.owl

acute leukemia
type: Class
subclass of: lymphoid leukemia
database_cross_reference: NCI:C9300
database_cross_reference: UMLS_CUI:C1378511
database_cross_reference: OMIM:308960
database_cross_reference: ICD10CM:C95.00
has_alternative_id: DOID:12621
database_cross_reference: ICD9CM:208.0
id: DOID:12603
database_cross_reference: UMLS_CUI:C0085669
definition: A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream.
database_cross_reference: SNOMEDCT_US_2020_03_01:24072005
has_exact_synonym: Stem cell Leukemia
has_obo_namespace: disease_ontology
has_exact_synonym: Stem cell leukaemia
in_subset: NCIthesaurus
imported from: doid.owl

pyloric stenosis
type: Class
subclass of: gastric outlet obstruction
id: DOID:12639
database_cross_reference: NCI:C34966
database_cross_reference: ICD10CM:K31.1
database_cross_reference: MESH:D011707
database_cross_reference: UMLS_CUI:C0034194
database_cross_reference: SNOMEDCT_US_2020_03_01:367403001
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

hiatus hernia
type: Class
subclass of: stomach disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D006551
database_cross_reference: UMLS_CUI:C0376710
database_cross_reference: SNOMEDCT_US_2020_03_01:84089009
database_cross_reference: OMIM:142400
database_cross_reference: SNOMEDCT_US_2020_03_01:236053002
database_cross_reference: ICD10CM:K44
database_cross_reference: SNOMEDCT_US_2020_03_01:3662000
id: DOID:12642
database_cross_reference: UMLS_CUI:C3489393
has_exact_synonym: Diaphragmatic - hiatus -hernia
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C98945
database_cross_reference: UMLS_CUI:C0267725
has_exact_synonym: hiatal hernia
in_subset: NCIthesaurus
imported from: doid.owl

vestibulocochlear nerve disease
type: Class
subclass of: retrocochlear disease
subclass of: cranial nerve disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:77949003
database_cross_reference: ICD10CM:H93.3
id: DOID:12657
database_cross_reference: ICD9CM:388.5
database_cross_reference: UMLS_CUI:C0001163
database_cross_reference: NCI:C27207
database_cross_reference: MESH:D000160
has_exact_synonym: acoustic nerve disease
in_subset: NCIthesaurus
imported from: doid.owl

paracoccidioidomycosis
type: Class
subclass of: primary systemic mycosis
subclass of: bone disease
subclass of: skin disease
subclass of: lung disease
subclass of: lymph node disease
database_cross_reference: NCI:C34891
id: DOID:12662
has_obo_namespace: disease_ontology
definition: A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.
database_cross_reference: ICD9CM:116.1
database_cross_reference: UMLS_CUI:C0030409
database_cross_reference: SNOMEDCT_US_2020_03_01:59925007
database_cross_reference: ICD10CM:B41
database_cross_reference: MESH:D010229
database_cross_reference: GARD:7323
has_exact_synonym: Mucocutaneous-lymphangitic paracoccidioidomycosis
has_exact_synonym: Paracoccidioidomycosis
has_exact_synonym: paracoccidioidal mycosis
in_subset: NCIthesaurus
imported from: doid.owl

blastomycosis
type: Class
subclass of: primary systemic mycosis
database_cross_reference: SNOMEDCT_US_2020_03_01:266217003
has_exact_synonym: Chicago disease
database_cross_reference: NCI:C34428
database_cross_reference: ICD10CM:B40
id: DOID:12663
has_obo_namespace: disease_ontology
definition: A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening.
database_cross_reference: MESH:D001759
has_alternative_id: DOID:13067
has_exact_synonym: Blastomyces Dermatitidis Infection
database_cross_reference: ICD9CM:116.0
database_cross_reference: GARD:5931
database_cross_reference: UMLS_CUI:C0005716
has_exact_synonym: Blastomycotic infection
has_exact_synonym: Gilchrist's disease
has_exact_synonym: Infection by Blastomyces dermatitidis
has_exact_synonym: North American blastomycosis
in_subset: NCIthesaurus
imported from: doid.owl

binocular vision disease
type: Class
subclass of: strabismus
id: DOID:12667
database_cross_reference: NCI:C34422
database_cross_reference: UMLS_CUI:C0005461
database_cross_reference: SNOMEDCT_US_2020_03_01:83275001
has_alternative_id: DOID:12671
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H53.30
database_cross_reference: ICD9CM:368.30
has_exact_synonym: simultaneous visual perception without fusion
in_subset: NCIthesaurus
imported from: doid.owl

abnormal retinal correspondence
type: Class
subclass of: binocular vision disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H53.31
id: DOID:12668
database_cross_reference: SNOMEDCT_US_2020_03_01:79195003
database_cross_reference: ICD9CM:368.34
database_cross_reference: UMLS_CUI:C0155010
imported from: doid.owl

hypercalcemia
type: Class
subclass of: calcium metabolism disease
id: DOID:12678
database_cross_reference: ICD9CM:275.42
database_cross_reference: MESH:D006934
database_cross_reference: UMLS_CUI:C0020437
database_cross_reference: NCI:C3112
database_cross_reference: SNOMEDCT_US_2020_03_01:154752005
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E83.52
in_subset: NCIthesaurus
imported from: doid.owl

nephrocalcinosis
type: Class
subclass of: kidney disease
database_cross_reference: MESH:D009397
database_cross_reference: GARD:7177
id: DOID:12679
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84918
database_cross_reference: UMLS_CUI:C0027709
database_cross_reference: SNOMEDCT_US_2020_03_01:154752005
in_subset: NCIthesaurus
imported from: doid.owl

pseudobulbar palsy
type: Class
subclass of: brain disease
definition: A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom abnormal bulbar reflexes, and has_symptom emotional outbursts.
id: DOID:12680
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0033790
database_cross_reference: ICD9CM:335.23
database_cross_reference: SNOMEDCT_US_2020_03_01:7379000
database_cross_reference: NCI:C129934
database_cross_reference: MESH:D020828
has_exact_synonym: Pseudobulbar palsy
has_exact_synonym: pseudobulbar paralysis
in_subset: NCIthesaurus
imported from: doid.owl

vestibular neuronitis
type: Class
subclass of: vestibulocochlear nerve disease
subclass of: poliomyelitis
database_cross_reference: MESH:D020338
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:386.12
database_cross_reference: ICD10CM:H81.2
database_cross_reference: SNOMEDCT_US_2020_03_01:232293008
database_cross_reference: UMLS_CUI:C0751908
definition: A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent.
id: DOID:12683
has_exact_synonym: Epidemic neurolabyrinthitis
has_exact_synonym: Vestibular neuritis
imported from: doid.owl

acoustic neuroma
type: Class
subclass of: neurilemmoma
id: DOID:12689
database_cross_reference: SNOMEDCT_US_2020_03_01:269643009
database_cross_reference: GARD:223
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3276
database_cross_reference: UMLS_CUI:C0027859
database_cross_reference: MESH:D009464
has_exact_synonym: Vestibular Neurilemmoma
has_exact_synonym: Vestibular schwannoma
in_subset: NCIthesaurus
imported from: doid.owl

locked-in syndrome
type: Class
subclass of: nervous system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:38023001
database_cross_reference: UMLS_CUI:C0023944
database_cross_reference: ICD10CM:G83.5
id: DOID:12697
database_cross_reference: ICD9CM:344.81
database_cross_reference: GARD:6919
definition: A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes.
has_exact_synonym: Locked-in state
has_obo_namespace: disease_ontology
has_exact_synonym: Locked in syndrome
database_cross_reference: MESH:D000080422
in_subset: DO rare slim
imported from: doid.owl

gynecomastia
type: Class
subclass of: disorder of sexual development
definition: A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels.
database_cross_reference: NCI:C3073
database_cross_reference: MESH:D006177
id: DOID:12698
database_cross_reference: ICD10CM:N62
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0018418
database_cross_reference: SNOMEDCT_US_2020_03_01:155963008
in_subset: NCIthesaurus
imported from: doid.owl

leiomyoma
type: Class
subclass of: cell type benign neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3157
id: DOID:127
database_cross_reference: SNOMEDCT_US_2020_03_01:702978006
definition: A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
database_cross_reference: MESH:D007889
database_cross_reference: UMLS_CUI:C0023267
has_exact_synonym: leiomyomatous neoplasm
has_exact_synonym: leiomyomatous tumor
in_subset: NCIthesaurus
imported from: doid.owl

hereditary hemorrhagic telangiectasia
type: Class
subclass of: autosomal dominant disease
subclass of: vascular disease
database_cross_reference: GARD:6626
database_cross_reference: ICD10CM:I78.0
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
definition: A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
database_cross_reference: OMIM:615506
database_cross_reference: OMIM:601101
database_cross_reference: OMIM:600376
database_cross_reference: MESH:D013683
database_cross_reference: OMIM:187300
database_cross_reference: ICD9CM:448.0
id: DOID:1270
has_exact_synonym: Osler-Weber-Rendu disease
has_exact_synonym: Rendu-Osler-Weber disease
database_cross_reference: UMLS_CUI:C0039445
database_cross_reference: ORDO:774
database_cross_reference: NCI:C35064
has_exact_synonym: Osler hemorrhagic telangiectasia syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:266324004
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hyperprolactinemia
type: Class
subclass of: acquired metabolic disease
database_cross_reference: MESH:D002640
definition: An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
database_cross_reference: ICD10CM:E22.1
database_cross_reference: MESH:D006966
has_exact_synonym: Chiari-Frommel syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:190468001
database_cross_reference: UMLS_CUI:C0008043
id: DOID:12700
has_alternative_id: DOID:12699
has_exact_synonym: Pregnancy-related A-G syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:85039006
database_cross_reference: UMLS_CUI:C0020514
has_obo_namespace: disease_ontology
has_exact_synonym: hyperprolactinaemia
in_subset: NCIthesaurus
imported from: doid.owl

ataxia telangiectasia
type: Class
subclass of: autosomal recessive cerebellar ataxia
comment: OMIM mapping confirmed by DO. [SN].
definition: An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.
database_cross_reference: GARD:5862
has_exact_synonym: Louis Bar syndrome
database_cross_reference: UMLS_CUI:C0004135
database_cross_reference: MESH:D001260
id: DOID:12704
database_cross_reference: SNOMEDCT_US_2020_03_01:68504005
database_cross_reference: OMIM:208900
has_obo_namespace: disease_ontology
has_exact_synonym: Boder-Sedgwick syndrome
database_cross_reference: NCI:C2887
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Friedreich ataxia
type: Class
subclass of: autosomal recessive cerebellar ataxia
database_cross_reference: MESH:D005621
database_cross_reference: SNOMEDCT_US_2020_03_01:155011003
database_cross_reference: NCI:C84718
database_cross_reference: GARD:6468
database_cross_reference: ICD9CM:334.0
has_alternative_id: DOID:0050555
id: DOID:12705
database_cross_reference: UMLS_CUI:C0016719
has_exact_synonym: Friedreich ataxia 1
has_obo_namespace: disease_ontology
has_exact_synonym: Friedreich's ataxia
comment: Xref MGI.
has_exact_synonym: Friedreich's tabes
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

capillary disease
type: Class
subclass of: vascular disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:448
database_cross_reference: SNOMEDCT_US_2020_03_01:58729003
database_cross_reference: ICD10CM:I78
definition: A vascular disease that is located_in the capillaries.
database_cross_reference: UMLS_CUI:C0155765
id: DOID:1271
has_exact_synonym: disease of capillaries
imported from: doid.owl

nephronophthisis
type: Class
subclass of: autosomal recessive disease
subclass of: kidney disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0687120
database_cross_reference: SNOMEDCT_US_2020_03_01:204958008
database_cross_reference: OMIM:PS256100
database_cross_reference: NCI:C123200
database_cross_reference: ICD10CM:Q61.5
id: DOID:12712
database_cross_reference: GARD:206
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
database_cross_reference: ORDO:655
has_exact_synonym: medullary cystic disease
has_exact_synonym: medullary cystic kidney
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Ellis-Van Creveld syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
id: DOID:12714
database_cross_reference: UMLS_CUI:C0013903
database_cross_reference: ICD9CM:756.55
database_cross_reference: NCI:C84684
has_obo_namespace: disease_ontology
definition: A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2.
database_cross_reference: MESH:D004613
has_exact_synonym: Chondroectodermal dysplasia
has_exact_synonym: Ellis-van Creveld syndrome
database_cross_reference: GARD:1301
database_cross_reference: OMIM:225500
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q77.6
database_cross_reference: SNOMEDCT_US_2020_03_01:62501005
has_exact_synonym: mesoectodermal dysplasia
in_subset: NCIthesaurus
imported from: doid.owl

newborn respiratory distress syndrome
type: Class
subclass of: respiratory failure
database_cross_reference: OMIM:267450
definition: A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.
database_cross_reference: ICD10CM:P22.0
database_cross_reference: UMLS_CUI:C0020192
id: DOID:12716
has_alternative_id: DOID:13859
has_alternative_id: DOID:11395
has_exact_synonym: HMD - Hyaline membrane disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D006819
database_cross_reference: SNOMEDCT_US_2020_03_01:26168007
has_exact_synonym: Neonatal respiratory Distress syndrome
has_exact_synonym: hyaline membrane disease
has_exact_synonym: pulmonary hyaline membrane disease
has_exact_synonym: pulmonary hypoperfusion syndrome of newborn
has_exact_synonym: respiratory distress syndrome of newborn
imported from: doid.owl

telangiectasis
type: Class
subclass of: peripheral vascular disease
database_cross_reference: NCI:C28194
database_cross_reference: MESH:D013684
database_cross_reference: UMLS_CUI:C0039446
id: DOID:1272
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:112641009
has_exact_synonym: telangiectasia
in_subset: NCIthesaurus
imported from: doid.owl

cerebral atherosclerosis
type: Class
subclass of: atherosclerosis
database_cross_reference: ICD9CM:437.0
database_cross_reference: NCI:C34459
id: DOID:12720
has_exact_synonym: Cerebral atherosclerosis
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002537
database_cross_reference: ICD10CM:I67.2
database_cross_reference: UMLS_CUI:C0007775
database_cross_reference: SNOMEDCT_US_2020_03_01:266258005
in_subset: NCIthesaurus
imported from: doid.owl

multiple epiphyseal dysplasia
type: Class
subclass of: osteochondrodysplasia
database_cross_reference: MESH:D010009
database_cross_reference: UMLS_CUI:C0026760
database_cross_reference: ICD9CM:756.56
id: DOID:12721
definition: An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.
database_cross_reference: SNOMEDCT_US_2020_03_01:59708000
database_cross_reference: GARD:10756
has_obo_namespace: disease_ontology
comment: Xref MGI.
database_cross_reference: ORDO:251
has_exact_synonym: polyepiphyseal dysplasia
in_subset: DO rare slim
imported from: doid.owl

respiratory syncytial virus infectious disease
type: Class
subclass of: viral infectious disease
id: DOID:1273
database_cross_reference: SNOMEDCT_US_2020_03_01:186750007
has_obo_namespace: disease_ontology
definition: A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.
database_cross_reference: UMLS_CUI:C0035235
database_cross_reference: NCI:C3354
database_cross_reference: MESH:D018357
in_subset: NCIthesaurus
imported from: doid.owl

hypercementosis
type: Class
subclass of: teeth hard tissue disease
has_exact_synonym: Cementation hyperplasia
database_cross_reference: SNOMEDCT_US_2020_03_01:78537008
id: DOID:12733
database_cross_reference: UMLS_CUI:C0020441
database_cross_reference: MESH:D006936
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K03.4
database_cross_reference: ICD9CM:521.5
imported from: doid.owl

corneal staphyloma
type: Class
subclass of: corneal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:193849005
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H18.72
database_cross_reference: UMLS_CUI:C0152440
database_cross_reference: ICD9CM:371.73
id: DOID:12753
imported from: doid.owl

choroid cancer
type: Class
subclass of: choroid disease
subclass of: uveal cancer
has_exact_synonym: Choroidal tumor
database_cross_reference: UMLS_CUI:C0153630
database_cross_reference: SNOMEDCT_US_2020_03_01:93755007
database_cross_reference: NCI:C2949
id: DOID:12759
database_cross_reference: ICD9CM:190.6
database_cross_reference: UMLS_CUI:C0008523
database_cross_reference: ICD10CM:C69.3
database_cross_reference: SNOMEDCT_US_2020_03_01:127001008
database_cross_reference: NCI:C3566
has_alternative_id: DOID:12760
database_cross_reference: MESH:D002830
has_exact_synonym: choroid neoplasm
has_obo_namespace: disease_ontology
has_exact_synonym: malignant tumor of choroid
has_exact_synonym: malignant tumor of the Choroid
has_exact_synonym: neoplasm of choroid
in_subset: NCIthesaurus
imported from: doid.owl

tolosa-hunt syndrome
type: Class
subclass of: ocular motility disease
database_cross_reference: MESH:D020333
database_cross_reference: NCI:C85193
database_cross_reference: UMLS_CUI:C0040381
has_obo_namespace: disease_ontology
id: DOID:1278
database_cross_reference: SNOMEDCT_US_2020_03_01:75111000
database_cross_reference: GARD:7777
has_exact_synonym: Tolosa-Hunt syndrome
in_subset: NCIthesaurus
imported from: doid.owl

cicatricial ectropion
type: Class
subclass of: ectropion
database_cross_reference: SNOMEDCT_US_2020_03_01:28914006
database_cross_reference: ICD9CM:374.14
database_cross_reference: UMLS_CUI:C0155196
has_obo_namespace: disease_ontology
id: DOID:12782
imported from: doid.owl

migraine without aura
type: Class
subclass of: migraine
database_cross_reference: UMLS_CUI:C0338480
database_cross_reference: SNOMEDCT_US_2020_03_01:56097005
database_cross_reference: ICD9CM:346.1
database_cross_reference: ICD10CM:G43.0
database_cross_reference: NCI:C117004
definition: A migraine that is characterized by migraine headaches that are not accompanied by an aura.
database_cross_reference: OMIM:607501
database_cross_reference: MESH:D020326
id: DOID:12783
comment: Xref MGI.
has_exact_synonym: common migraine
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

ocular motility disease
type: Class
subclass of: eye disease
subclass of: cranial nerve disease
database_cross_reference: GARD:7237
has_obo_namespace: disease_ontology
id: DOID:1279
database_cross_reference: ICD9CM:378.9
database_cross_reference: GARD:7061
database_cross_reference: UMLS_CUI:C0028850
database_cross_reference: SNOMEDCT_US_2020_03_01:45030009
database_cross_reference: MESH:D015835
has_exact_synonym: disorder of eye movements
has_exact_synonym: eye movement disorder
imported from: doid.owl

mucopolysaccharidosis
type: Class
subclass of: lysosomal storage disease
database_cross_reference: ICD9CM:277.5
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference: MESH:D009083
database_cross_reference: OMIM:PS607014
id: DOID:12798
has_alternative_id: DOID:14716
database_cross_reference: OMIM:252700
database_cross_reference: ORDO:79213
database_cross_reference: NCI:C61259
database_cross_reference: SNOMEDCT_US_2020_03_01:267452003
database_cross_reference: ICD10CM:E76.3
definition: A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
database_cross_reference: UMLS_CUI:C0026703
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7065
in_subset: NCIthesaurus
imported from: doid.owl

mucopolysaccharidosis VI
type: Class
subclass of: mucopolysaccharidosis
database_cross_reference: SNOMEDCT_US_2020_03_01:69463008
database_cross_reference: GARD:7095
id: DOID:12800
definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:253200
database_cross_reference: MESH:D009087
database_cross_reference: UMLS_CUI:C0026709
has_exact_synonym: MPS VI - Maroteaux-Lamy syndrome
has_exact_synonym: arylsulfatase B deficiency
has_exact_synonym: deficiency of N-acetylgalactosamine-4-sulfatase
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C61264
has_exact_synonym: Maroteaux - Lamy syndrome
has_exact_synonym: Maroteaux-Lamy syndrome
in_subset: NCIthesaurus
imported from: doid.owl

mucopolysaccharidosis III
type: Class
subclass of: mucopolysaccharidosis
database_cross_reference: NCI:C61262
database_cross_reference: OMIM:252940
has_alternative_id: DOID:14729
database_cross_reference: MESH:D009084
id: DOID:12801
definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:190936000
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:581
has_alternative_id: DOID:14788
has_exact_synonym: Mucopolysaccharidosis, MPS-III
has_exact_synonym: N-sulphoglucosamine sulphohydrolase deficiency
has_exact_synonym: Sanfilippo's syndrome
database_cross_reference: UMLS_CUI:C0026706
has_exact_synonym: heparan sulfate sulfatase deficiency
has_narrow_synonym: naglu deficiency
in_subset: NCIthesaurus
imported from: doid.owl

mucopolysaccharidosis IV
type: Class
subclass of: mucopolysaccharidosis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:378007
database_cross_reference: MESH:D009085
has_alternative_id: DOID:14767
database_cross_reference: ICD10CM:E76.219
database_cross_reference: UMLS_CUI:C0026707
has_alternative_id: DOID:0050808
database_cross_reference: NCI:C61263
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:12804
definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
has_exact_synonym: Mucopolysaccharidosis, MPS-IV
has_narrow_synonym: Osteochondrodystrophy
has_narrow_synonym: chondroosteodystrophy
has_exact_synonym: deficiency of N-acetylgalactosamine-6-sulphatase
has_exact_synonym: deficiency of chondroitinsulphatase
has_exact_synonym: galactosamine-6-sulfatase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

quadriplegia
type: Class
subclass of: central nervous system disease
database_cross_reference: UMLS_CUI:C0034372
database_cross_reference: ICD10CM:G82.5
database_cross_reference: SNOMEDCT_US_2020_03_01:11538006
database_cross_reference: MESH:D011782
id: DOID:12835
database_cross_reference: NCI:C50721
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:344.00
has_exact_synonym: tetraplegia
in_subset: NCIthesaurus
imported from: doid.owl

thyroid crisis
type: Class
subclass of: thyroid gland disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C112836
database_cross_reference: SNOMEDCT_US_2020_03_01:190262002
database_cross_reference: UMLS_CUI:C0040127
id: DOID:12837
database_cross_reference: MESH:D013958
has_exact_synonym: Thyroid crisis
has_exact_synonym: Thyrotoxic crisis
in_subset: NCIthesaurus
imported from: doid.owl

prolapse of female genital organ
type: Class
subclass of: female reproductive system disease
database_cross_reference: UMLS_CUI:C0029801
definition: A female reproductive system disease that is characteried by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening.
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:618.8
id: DOID:1284
imported from: doid.owl

ancylostomiasis
type: Class
subclass of: skin disease
subclass of: eye disease
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: GARD:9742
database_cross_reference: NCI:C35805
database_cross_reference: SNOMEDCT_US_2020_03_01:85807000
database_cross_reference: UMLS_CUI:C0002831
id: DOID:12841
database_cross_reference: MESH:D000724
definition: A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:B76.0
in_subset: NCIthesaurus
imported from: doid.owl

Guillain-Barre syndrome
type: Class
subclass of: autoimmune disease of peripheral nervous system
definition: An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
database_cross_reference: OMIM:139393
database_cross_reference: GARD:6554
database_cross_reference: SNOMEDCT_US_2020_03_01:155082001
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0018378
database_cross_reference: MESH:D020275
has_exact_synonym: acute inflammatory demyelinating polyradiculopathy
database_cross_reference: ICD10CM:G61.0
database_cross_reference: NCI:C116345
id: DOID:12842
has_exact_synonym: Infectious neuronitis
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Post-infectious polyneuritis
has_exact_synonym: Postinfectious polyneuritis
has_exact_synonym: acute infective polyneuritis
has_exact_synonym: acute postinfectious polyneuropathy
in_subset: NCIthesaurus
imported from: doid.owl

autistic disorder
type: Class
subclass of: autism spectrum disorder
id: DOID:12849
database_cross_reference: EFO:0003758
database_cross_reference: NCI:C97161
database_cross_reference: MESH:D001321
database_cross_reference: ORDO:106
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:38763009
database_cross_reference: UMLS_CUI:C0004352
database_cross_reference: ICD10CM:F84.0
definition: An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:299.0
has_exact_synonym: Kanner's syndrome
database_cross_reference: OMIM:209850
has_exact_synonym: autism
has_exact_synonym: autistic disorder of childhood onset
has_exact_synonym: childhood autism
has_exact_synonym: infantile autism
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

rectal disease
type: Class
subclass of: intestinal disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0034882
database_cross_reference: SNOMEDCT_US_2020_03_01:5964004
id: DOID:1285
database_cross_reference: MESH:D012002
imported from: doid.owl

Huntington's disease
type: Class
subclass of: neurodegenerative disease
database_cross_reference: ICD10CM:G10
database_cross_reference: KEGG:05016
database_cross_reference: MESH:D006816
database_cross_reference: ICD9CM:333.4
database_cross_reference: SNOMEDCT_US_2020_03_01:155006000
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6677
database_cross_reference: NCI:C82342
id: DOID:12858
has_exact_synonym: HD
has_exact_synonym: Huntington disease
database_cross_reference: OMIM:143100
database_cross_reference: UMLS_CUI:C0020179
definition: A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
has_exact_synonym: Huntington's chorea
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

cardiovascular system disease
type: Class
subclass of: disease of anatomical entity
database_cross_reference: SNOMEDCT_US_2020_03_01:266275004
definition: A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
database_cross_reference: ICD9CM:429.2
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002318
database_cross_reference: UMLS_CUI:C0007222
database_cross_reference: NCI:C2931
has_alternative_id: DOID:73
id: DOID:1287
has_exact_synonym: disease of subdivision of hemolymphoid system
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

Miller Fisher syndrome
type: Class
subclass of: Guillain-Barre syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:1767005
database_cross_reference: NCI:C116958
database_cross_reference: MESH:D019846
id: DOID:12889
definition: A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.
has_exact_synonym: Fisher's syndrome
database_cross_reference: UMLS_CUI:C0393799
database_cross_reference: GARD:3668
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G61.0
has_exact_synonym: Miller-Fisher variant of Guillain-Barre syndrome
in_subset: NCIthesaurus
imported from: doid.owl

neurodegenerative disease
type: Class
subclass of: central nervous system disease
database_cross_reference: UMLS_CUI:C0524851
database_cross_reference: UMLS_CUI:C1285162
database_cross_reference: SNOMEDCT_US_2020_03_01:362975008
has_alternative_id: DOID:4874
database_cross_reference: ICD10CM:G31.9
definition: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
has_obo_namespace: disease_ontology
id: DOID:1289
database_cross_reference: NCI:C27090
database_cross_reference: MESH:D019636
has_exact_synonym: Neurodegenerative disease
has_exact_synonym: degenerative disease
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Sjogren's syndrome
type: Class
subclass of: autoimmune disease of exocrine system
id: DOID:12894
database_cross_reference: OMIM:270150
database_cross_reference: SNOMEDCT_US_2020_03_01:83901003
database_cross_reference: ICD9CM:710.2
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: NCI:C70647
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:267875002
database_cross_reference: UMLS_CUI:C0086981
definition: An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
database_cross_reference: NCI:C26883
database_cross_reference: GARD:10252
has_alternative_id: DOID:416
database_cross_reference: ICD10CM:M35.00
database_cross_reference: ICD10CM:M35.0
has_exact_synonym: Sjogren syndrome
database_cross_reference: UMLS_CUI:C1527336
database_cross_reference: MESH:D012859
has_exact_synonym: Sicca syndrome
has_exact_synonym: xerodermosteosis
in_subset: NCIthesaurus
imported from: doid.owl

keratoconjunctivitis sicca
type: Class
subclass of: dry eye syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:78946008
id: DOID:12895
database_cross_reference: UMLS_CUI:C0022575
database_cross_reference: MESH:D007638
has_obo_namespace: disease_ontology
database_cross_reference: GARD:8444
has_exact_synonym: KCS
imported from: doid.owl

Mikulicz disease
type: Class
subclass of: autoimmune disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K11.8
database_cross_reference: SNOMEDCT_US_2020_03_01:7826003
database_cross_reference: GARD:7043
id: DOID:12900
definition: An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection.
has_exact_synonym: IgG4-related dacryoadenitis and sialadenitis
database_cross_reference: MESH:D008882
has_exact_synonym: Mikulicz's disease
database_cross_reference: NCI:C34819
database_cross_reference: UMLS_CUI:C0026103
in_subset: NCIthesaurus
imported from: doid.owl

necrotizing sialometaplasia
type: Class
subclass of: salivary gland disease
database_cross_reference: SNOMEDCT_US_2020_03_01:109769000
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0037033
database_cross_reference: ICD10CM:K11.8
id: DOID:12901
database_cross_reference: MESH:D012797
has_exact_synonym: Necrotizing sialometaplasia
imported from: doid.owl

mucocele of salivary gland
type: Class
subclass of: salivary gland disease
database_cross_reference: ICD9CM:527.6
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K11.6
database_cross_reference: UMLS_CUI:C0026686
database_cross_reference: NCI:C27649
id: DOID:12904
has_exact_synonym: Mucous retention cyst of salivary gland
has_exact_synonym: Ranula
database_cross_reference: SNOMEDCT_US_2020_03_01:196508008
has_exact_synonym: Salivary Cyst
has_exact_synonym: Salivary gland mucocele
in_subset: NCIthesaurus
imported from: doid.owl

endocardial fibroelastosis
type: Class
subclass of: endocardium disease
database_cross_reference: ICD9CM:425.3
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D004695
database_cross_reference: NCI:C98922
id: DOID:12929
database_cross_reference: ICD10CM:I42.4
database_cross_reference: SNOMEDCT_US_2020_03_01:65457005
has_obo_namespace: disease_ontology
definition: An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers.
has_exact_synonym: Elastomyofibrosis
database_cross_reference: UMLS_CUI:C0014117
database_cross_reference: GARD:2121
database_cross_reference: OMIM:226000
database_cross_reference: GARD:6336
in_subset: NCIthesaurus
imported from: doid.owl

dilated cardiomyopathy
type: Class
subclass of: intrinsic cardiomyopathy
has_related_synonym: Idiopathic dilation cardiomyopathy
database_cross_reference: EFO:0000407
database_cross_reference: UMLS_CUI:C0007193
database_cross_reference: ORDO:217604
database_cross_reference: SNOMEDCT_US_2020_03_01:74368002
database_cross_reference: ICD10CM:I42.0
has_related_synonym: Familial dilated cardiomyopathy
database_cross_reference: GARD:221
database_cross_reference: NCI:C84673
id: DOID:12930
database_cross_reference: OMIM:PS115200
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
definition: An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
has_related_synonym: Congestive cardiomyopathy
database_cross_reference: KEGG:05414
database_cross_reference: MESH:D002311
has_obo_namespace: disease_ontology
has_exact_synonym: primary dilated cardiomyopathy
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

endomyocardial fibrosis
type: Class
subclass of: restrictive cardiomyopathy
database_cross_reference: UMLS_CUI:C0553980
has_exact_synonym: African endomyocardial fibrosis
database_cross_reference: SNOMEDCT_US_2020_03_01:111507009
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6340
database_cross_reference: ICD9CM:425.0
database_cross_reference: MESH:D004719
database_cross_reference: NCI:C34585
id: DOID:12932
has_exact_synonym: Becker's disease
has_exact_synonym: Endomyocardial sclerosis
has_exact_synonym: Obscure African cardiomyopathy
has_exact_synonym: obscure African cardiomyopathy
in_subset: NCIthesaurus
imported from: doid.owl

Kearns-Sayre syndrome
type: Class
subclass of: chronic progressive external ophthalmoplegia
has_obo_namespace: disease_ontology
id: DOID:12934
database_cross_reference: GARD:6817
database_cross_reference: ICD10CM:H49.81
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84798
database_cross_reference: SNOMEDCT_US_2020_03_01:25792000
database_cross_reference: MESH:D007625
database_cross_reference: UMLS_CUI:C0022541
database_cross_reference: OMIM:530000
in_subset: NCIthesaurus
imported from: doid.owl

vulva carcinoma
type: Class
subclass of: vulva cancer
subclass of: carcinoma
database_cross_reference: UMLS_CUI:C0677055
id: DOID:1294
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4866
definition: A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has_exact_synonym: Vulvar carcinoma
has_related_synonym: carcinoma of vulva
in_subset: NCIthesaurus
imported from: doid.owl

lagophthalmos
type: Class
subclass of: eyelid disease
database_cross_reference: SNOMEDCT_US_2020_03_01:193936001
database_cross_reference: ICD10CM:H02.2
has_obo_namespace: disease_ontology
id: DOID:12959
database_cross_reference: UMLS_CUI:C0152226
database_cross_reference: ICD9CM:374.2
imported from: doid.owl

acrocephalosyndactylia
type: Class
subclass of: synostosis
definition: A synostosis that results_in craniosynostosis and syndactyly.
database_cross_reference: OMIM:101200
database_cross_reference: NCI:C34348
database_cross_reference: UMLS_CUI:C1510455
database_cross_reference: MESH:D000168
has_obo_namespace: disease_ontology
has_exact_synonym: Apert syndrome
id: DOID:12960
database_cross_reference: SNOMEDCT_US_2020_03_01:63661009
database_cross_reference: ICD9CM:755.55
has_alternative_id: DOID:0080004
comment: OMIM mapping confirmed by DO. [SN].
in_subset: NCIthesaurus
imported from: doid.owl

central nervous system leukemia
type: Class
subclass of: central nervous system cancer
id: DOID:12969
has_exact_synonym: Leukemia of the CNS
database_cross_reference: UMLS_CUI:C1332884
database_cross_reference: NCI:C5440
has_obo_namespace: disease_ontology
definition: A hematologic cancer located_in the central nervous system.
in_subset: NCIthesaurus
imported from: doid.owl

hereditary spherocytosis
type: Class
subclass of: congenital hemolytic anemia
database_cross_reference: ORDO:822
database_cross_reference: ICD10CM:D58.0
comment: Xref MGI.
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:282.0
database_cross_reference: UMLS_CUI:C0037889
definition: A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
has_exact_synonym: Congenital spherocytic hemolytic anemia
database_cross_reference: SNOMEDCT_US_2020_03_01:154795009
id: DOID:12971
database_cross_reference: NCI:C97074
database_cross_reference: MESH:D013103
database_cross_reference: GARD:6639
has_exact_synonym: Minkowski Chauffard syndrome
has_exact_synonym: spherocytic anemia
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

leukostasis
type: Class
subclass of: leukocyte disease
database_cross_reference: MESH:D018921
database_cross_reference: SNOMEDCT_US_2020_03_01:30419000
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4062
database_cross_reference: UMLS_CUI:C0282548
id: DOID:12986
has_exact_synonym: Leukostasis
in_subset: NCIthesaurus
imported from: doid.owl

agranulocytosis
type: Class
subclass of: leukopenia
database_cross_reference: MESH:D000380
database_cross_reference: SNOMEDCT_US_2020_03_01:154830007
database_cross_reference: UMLS_CUI:C0001824
database_cross_reference: ICD10CM:D70
definition: A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood.
has_obo_namespace: disease_ontology
id: DOID:12987
has_exact_synonym: Granulocytopenic disorder
has_exact_synonym: Granulopenia
has_exact_synonym: granulocytopenia
in_subset: NCIthesaurus
imported from: doid.owl

conduct disorder
type: Class
subclass of: specific developmental disorder
database_cross_reference: ICD9CM:312.9
database_cross_reference: UMLS_CUI:C0149654
definition: A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
database_cross_reference: SNOMEDCT_US_2020_03_01:430909002
id: DOID:12995
database_cross_reference: EFO:0004216
database_cross_reference: MESH:D019955
database_cross_reference: ICD10CM:F91
database_cross_reference: NCI:C89329
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

carotid stenosis
type: Class
subclass of: carotid artery disease
database_cross_reference: MESH:D016893
database_cross_reference: UMLS_CUI:C0007282
id: DOID:13001
database_cross_reference: NCI:C95804
has_exact_synonym: Stenosis, carotid artery
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:195181000
has_exact_synonym: Carotid artery stenosis
in_subset: NCIthesaurus
imported from: doid.owl

subclavian steal syndrome
type: Class
subclass of: syndrome
database_cross_reference: MESH:D013349
database_cross_reference: ICD9CM:435.2
database_cross_reference: SNOMEDCT_US_2020_03_01:15258001
database_cross_reference: NCI:C35044
database_cross_reference: UMLS_CUI:C0038531
id: DOID:13002
has_exact_synonym: Subclavian artery stenosis
has_obo_namespace: disease_ontology
has_exact_synonym: subclavian steal phenomenon
has_exact_synonym: subclavian steal steno-occlusive disease
in_subset: NCIthesaurus
imported from: doid.owl

vertebrobasilar insufficiency
type: Class
subclass of: transient cerebral ischemia
database_cross_reference: UMLS_CUI:C0042568
database_cross_reference: MESH:D014715
database_cross_reference: ICD9CM:435.3
database_cross_reference: ICD10CM:G45.0
id: DOID:13003
database_cross_reference: SNOMEDCT_US_2020_03_01:195196001
has_exact_synonym: Vertebrobasilar insufficiency
has_obo_namespace: disease_ontology
has_exact_synonym: Vertebro-basilar insufficiency
has_exact_synonym: Vertebrobasilar arterial insufficiency
has_exact_synonym: Vertebrobasilar artery syndrome
imported from: doid.owl

shipyard eye
type: Class
subclass of: keratoconjunctivitis
database_cross_reference: ICD10CM:B30.0
has_obo_namespace: disease_ontology
id: DOID:13014
has_exact_synonym: EKC
has_exact_synonym: Epidemic keratoconjunctivitis
database_cross_reference: SNOMEDCT_US_2020_03_01:60548004
database_cross_reference: NCI:C34590
database_cross_reference: UMLS_CUI:C0014493
database_cross_reference: ICD9CM:077.1
in_subset: NCIthesaurus
imported from: doid.owl

retinopathy of prematurity
type: Class
subclass of: retinal disease
database_cross_reference: GARD:5695
database_cross_reference: SNOMEDCT_US_2020_03_01:155110004
database_cross_reference: UMLS_CUI:C0035344
database_cross_reference: MESH:D012178
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:362.21
id: DOID:13025
database_cross_reference: ICD10CM:H35.1
database_cross_reference: NCI:C34982
has_exact_synonym: Retrolental fibroplasia
has_exact_synonym: premature retinopathy
in_subset: NCIthesaurus
imported from: doid.owl

transient global amnesia
type: Class
subclass of: amnestic disorder
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G45.4
database_cross_reference: MESH:D020236
definition: An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
database_cross_reference: GARD:8172
database_cross_reference: UMLS_CUI:C0338591
database_cross_reference: NCI:C85198
database_cross_reference: ICD9CM:437.7
database_cross_reference: SNOMEDCT_US_2020_03_01:366963000
id: DOID:13027
in_subset: NCIthesaurus
imported from: doid.owl

balanitis
type: Class
subclass of: penile disease
database_cross_reference: MESH:D001446
id: DOID:13033
database_cross_reference: ICD10CM:N48.1
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26705
database_cross_reference: SNOMEDCT_US_2020_03_01:155928003
database_cross_reference: UMLS_CUI:C0004690
in_subset: NCIthesaurus
imported from: doid.owl

relapsing fever
type: Class
subclass of: primary bacterial infectious disease
has_obo_namespace: disease_ontology
id: DOID:13034
database_cross_reference: UMLS_CUI:C0035021
database_cross_reference: MESH:D012061
definition: A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse.
database_cross_reference: ICD10CM:A68
database_cross_reference: SNOMEDCT_US_2020_03_01:186820006
database_cross_reference: ICD9CM:087
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

tick-borne relapsing fever
type: Class
subclass of: relapsing fever
database_cross_reference: NCI:C34976
database_cross_reference: SNOMEDCT_US_2020_03_01:10301003
id: DOID:13036
database_cross_reference: UMLS_CUI:C0035022
database_cross_reference: ICD9CM:087.1
has_obo_namespace: disease_ontology
definition: A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
database_cross_reference: ICD10CM:A68.1
has_exact_synonym: Relapsing fever, tick-borne
has_exact_synonym: Tick-borne relapsing fever
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

persistent fetal circulation syndrome
type: Class
subclass of: pulmonary hypertension
database_cross_reference: UMLS_CUI:C0031190
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:747.83
id: DOID:13042
has_exact_synonym: Fetal circulation
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D010547
database_cross_reference: ICD10CM:P29.3
database_cross_reference: OMIM:265380
has_exact_synonym: Persistent fetal circulation
has_exact_synonym: Persistent fetal circulation syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:35604006
database_cross_reference: NCI:C85006
has_exact_synonym: Persistent foetal circulation
has_exact_synonym: Persistent foetal circulation syndrome
has_exact_synonym: Persistent pulmonary hypertension of the newborn
has_exact_synonym: congenital alveolar capillary dysplasia with misalignment of pulmonary veins
has_exact_synonym: persistent foetal circulation syndrome
has_exact_synonym: persistent pulmonary hypertension of the newborn
in_subset: NCIthesaurus
imported from: doid.owl

renal osteodystrophy
type: Class
subclass of: kidney disease
database_cross_reference: NCI:C114827
id: DOID:13068
database_cross_reference: MESH:D012080
database_cross_reference: UMLS_CUI:C0035086
database_cross_reference: SNOMEDCT_US_2020_03_01:266617009
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:N25.0
database_cross_reference: ICD9CM:588.0
has_exact_synonym: renal rickets
in_subset: NCIthesaurus
imported from: doid.owl

dementia
type: Class
subclass of: cognitive disorder
database_cross_reference: UMLS_CUI:C0154319
database_cross_reference: ICD9CM:290.8
definition: A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
has_obo_namespace: disease_ontology
id: DOID:1307
imported from: doid.owl

tinea unguium
type: Class
subclass of: nail disease
subclass of: dermatophytosis
has_alternative_id: DOID:11761
has_alternative_id: DOID:9690
has_alternative_id: DOID:9691
has_alternative_id: DOID:12848
has_alternative_id: DOID:9412
has_alternative_id: DOID:10462
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:681.9
has_alternative_id: DOID:12846
has_alternative_id: DOID:13119
id: DOID:13074
has_alternative_id: DOID:12847
has_alternative_id: DOID:12844
has_alternative_id: DOID:12845
has_alternative_id: DOID:11399
definition: A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved.
has_exact_synonym: Dermatophytic onychia
has_exact_synonym: Dermatophytosis of nail
has_exact_synonym: Onychomycosis due to dermatophyte
has_related_synonym: Tinea unguium
database_cross_reference: UMLS_CUI:C0007644
has_related_synonym: cellulitis and abscess
has_exact_synonym: cellulitis and abscess of buttock
has_exact_synonym: cellulitis and abscess of face
has_exact_synonym: cellulitis and abscess of finger
has_exact_synonym: cellulitis and abscess of finger and toe
has_exact_synonym: cellulitis and abscess of gluteal region
has_exact_synonym: cellulitis and abscess of trunk
has_exact_synonym: cellulitis and abscess of upper arm and forearm
has_exact_synonym: dermatophytic onychomycosis
imported from: doid.owl

eumycotic mycetoma
type: Class
subclass of: dermatomycosis
id: DOID:13078
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:410039003
database_cross_reference: NCI:C85505
database_cross_reference: ICD10CM:B47
database_cross_reference: MESH:D008271
database_cross_reference: UMLS_CUI:C0024449
definition: A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.
has_exact_synonym: Madura foot
has_exact_synonym: Maduromycosis, mycotic
has_exact_synonym: Mycotic mycetoma
has_exact_synonym: eumycetoma
has_exact_synonym: maduromycosis
in_subset: NCIthesaurus
imported from: doid.owl

periventricular leukomalacia
type: Class
subclass of: encephalomalacia
database_cross_reference: GARD:10285
database_cross_reference: ICD10CM:P91.2
database_cross_reference: UMLS_CUI:C0023529
database_cross_reference: ICD9CM:779.7
id: DOID:13088
database_cross_reference: SNOMEDCT_US_2020_03_01:230769007
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007969
database_cross_reference: NCI:C99013
in_subset: NCIthesaurus
imported from: doid.owl

intracranial arterial disease
type: Class
subclass of: cerebrovascular disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0752138
id: DOID:13089
database_cross_reference: MESH:D020765
imported from: doid.owl

branch retinal artery occlusion
type: Class
subclass of: retinal artery occlusion
has_exact_synonym: Arterial retinal branch occlusion
id: DOID:13094
database_cross_reference: ICD9CM:362.32
database_cross_reference: MESH:D015356
has_exact_synonym: Retinal Arterial Branch Occlusion
has_exact_synonym: Retinal arterial branch occlusion
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0006123
database_cross_reference: SNOMEDCT_US_2020_03_01:50821009
database_cross_reference: NCI:C34436
database_cross_reference: ICD10CM:H34.23
in_subset: NCIthesaurus
imported from: doid.owl

vertebral artery insufficiency
type: Class
subclass of: artery disease
subclass of: transient cerebral ischemia
subclass of: syndrome
id: DOID:13095
database_cross_reference: UMLS_CUI:C0042560
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D014715
has_exact_synonym: Vertebral artery syndrome
imported from: doid.owl

central retinal artery occlusion
type: Class
subclass of: retinal artery occlusion
definition: A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery.
database_cross_reference: UMLS_CUI:C0007688
database_cross_reference: ICD9CM:362.31
database_cross_reference: SNOMEDCT_US_2020_03_01:38742007
id: DOID:13098
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34456
database_cross_reference: ICD10CM:H34.1
database_cross_reference: MESH:D015356
in_subset: NCIthesaurus
imported from: doid.owl

Moyamoya disease
type: Class
subclass of: cerebral arterial disease
database_cross_reference: SNOMEDCT_US_2020_03_01:69116000
database_cross_reference: ICD10CM:I67.5
database_cross_reference: ORDO:401945
database_cross_reference: GARD:7064
database_cross_reference: UMLS_CUI:C0026654
database_cross_reference: OMIM:608796
database_cross_reference: ORDO:2573
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84895
id: DOID:13099
database_cross_reference: OMIM:300845
database_cross_reference: OMIM:615750
database_cross_reference: ORDO:280679
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:614042
database_cross_reference: ICD9CM:437.5
database_cross_reference: OMIM:607151
database_cross_reference: OMIM:252350
database_cross_reference: MESH:D009072
definition: A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
has_exact_synonym: progressive intracranial arterial occlusion
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

intracranial vasospasm
type: Class
subclass of: cerebrovascular disease
id: DOID:13100
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0751895
database_cross_reference: MESH:D020301
imported from: doid.owl

bladder leiomyoma
type: Class
subclass of: bladder benign neoplasm
subclass of: leiomyoma
id: DOID:13109
has_obo_namespace: disease_ontology
definition: A bladder benign neoplasm that derives_from smooth muscle cells.
database_cross_reference: NCI:C6178
database_cross_reference: UMLS_CUI:C1332560
has_exact_synonym: leiomyoma of the urinary bladder
in_subset: NCIthesaurus
imported from: doid.owl

cicatricial entropion
type: Class
subclass of: entropion
id: DOID:13113
database_cross_reference: ICD9CM:374.04
database_cross_reference: UMLS_CUI:C0155191
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:67383002
imported from: doid.owl

focal segmental glomerulosclerosis
type: Class
subclass of: glomerulosclerosis
database_cross_reference: NCI:C37308
database_cross_reference: SNOMEDCT_US_2020_03_01:25821008
database_cross_reference: EFO:0004236
database_cross_reference: GARD:6517
database_cross_reference: OMIM:PS603278
database_cross_reference: UMLS_CUI:C0017668
has_obo_namespace: disease_ontology
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:1312
database_cross_reference: MESH:D005923
has_alternative_id: DOID:3945
has_exact_synonym: FGS
has_exact_synonym: FSGS
has_exact_synonym: focal glomerular sclerosis
has_exact_synonym: focal glomerulosclerosis
in_subset: NCIthesaurus
imported from: doid.owl

protein-deficiency anemia
type: Class
subclass of: deficiency anemia
has_obo_namespace: disease_ontology
id: DOID:13120
database_cross_reference: UMLS_CUI:C0154290
database_cross_reference: ICD9CM:281.4
has_exact_synonym: Anemia due to protein deficiency
has_exact_synonym: Protein-deficiency anaemia
has_exact_synonym: Protein-deficiency anemia
database_cross_reference: SNOMEDCT_US_2020_03_01:85746008
database_cross_reference: ICD10CM:D53.0
has_exact_synonym: protein-deficiency anaemia
imported from: doid.owl

deficiency anemia
type: Class
subclass of: anemia
database_cross_reference: ICD9CM:281.9
database_cross_reference: SNOMEDCT_US_2020_03_01:191125001
id: DOID:13121
has_exact_synonym: deficiency anemias
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0041782
imported from: doid.owl

Werdnig-Hoffmann disease
type: Class
subclass of: childhood spinal muscular atrophy
database_cross_reference: MESH:D014897
database_cross_reference: SNOMEDCT_US_2020_03_01:64383006
database_cross_reference: OMIM:253300
id: DOID:13137
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:G12.0
definition: A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted.
database_cross_reference: NCI:C98670
database_cross_reference: ICD9CM:335.0
database_cross_reference: GARD:7883
has_exact_synonym: HMN (Hereditary motor Neuropathy) Proximal type I
has_obo_namespace: disease_ontology
has_exact_synonym: SMA1
has_exact_synonym: Spinal muscular atrophy 1
database_cross_reference: UMLS_CUI:C0043116
has_exact_synonym: hereditary motor neuropathy proximal type I
has_exact_synonym: infantile muscular atrophy
has_exact_synonym: progressive muscular atrophy of infancy
in_subset: NCIthesaurus
imported from: doid.owl

acute proliferative glomerulonephritis
type: Class
subclass of: glomerulonephritis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0341692
database_cross_reference: SNOMEDCT_US_2020_03_01:197579006
database_cross_reference: ICD9CM:580.0
id: DOID:13138
has_exact_synonym: acute glomerulonephritis with lesion of proliferative glomerulonephritis
imported from: doid.owl

crescentic glomerulonephritis
type: Class
subclass of: acute proliferative glomerulonephritis
id: DOID:13139
database_cross_reference: NCI:C128143
database_cross_reference: UMLS_CUI:C0403416
database_cross_reference: SNOMEDCT_US_2020_03_01:45406000
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

uveitis
type: Class
subclass of: uveal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:267719008
has_obo_namespace: disease_ontology
definition: An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.
id: DOID:13141
database_cross_reference: UMLS_CUI:C0042164
database_cross_reference: NCI:C26909
database_cross_reference: ICD10CM:H20.9
database_cross_reference: MESH:D014605
in_subset: NCIthesaurus
imported from: doid.owl

dissociated nystagmus
type: Class
subclass of: pathologic nystagmus
has_obo_namespace: disease_ontology
id: DOID:13174
has_exact_synonym: Dissociated nystagmus
database_cross_reference: ICD9CM:379.55
database_cross_reference: SNOMEDCT_US_2020_03_01:9520006
database_cross_reference: UMLS_CUI:C0155380
database_cross_reference: MESH:D009759
database_cross_reference: ICD10CM:H55.04
imported from: doid.owl

gout
type: Class
subclass of: arthritis
has_exact_synonym: Gouty arthropathy
database_cross_reference: MESH:D006073
database_cross_reference: ICD9CM:274
database_cross_reference: UMLS_CUI:C0003868
database_cross_reference: SNOMEDCT_US_2020_03_01:201661008
database_cross_reference: EFO:0004274
database_cross_reference: UMLS_CUI:C0018099
definition: An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
database_cross_reference: NCI:C34650
database_cross_reference: ICD9CM:274.0
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14144
database_cross_reference: ICD10CM:M10
id: DOID:13189
database_cross_reference: MESH:D015210
database_cross_reference: SNOMEDCT_US_2020_03_01:90560007
has_exact_synonym: Articular gout
has_exact_synonym: gouty arthritis
in_subset: NCIthesaurus
imported from: doid.owl

brain cancer
type: Class
subclass of: central nervous system cancer
subclass of: brain disease
database_cross_reference: SNOMEDCT_US_2020_03_01:93727008
has_alternative_id: DOID:6649
has_alternative_id: DOID:2125
has_alternative_id: DOID:2126
has_exact_synonym: BT - Brain tumour
database_cross_reference: ICD9CM:239.6
database_cross_reference: NCI:C7710
has_alternative_id: DOID:3543
database_cross_reference: ICD9CM:191
database_cross_reference: MESH:D001932
database_cross_reference: UMLS_CUI:C0153633
id: DOID:1319
has_alternative_id: DOID:911
database_cross_reference: UMLS_CUI:C0006118
database_cross_reference: NCI:C3568
database_cross_reference: UMLS_CUI:C0220624
database_cross_reference: SNOMEDCT_US_2020_03_01:428061005
database_cross_reference: SNOMEDCT_US_2020_03_01:126952004
database_cross_reference: NCI:C2907
definition: A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
database_cross_reference: UMLS_CUI:C1334557
database_cross_reference: ICD10CM:C71
database_cross_reference: UMLS_CUI:C0750974
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5115
database_cross_reference: UMLS_CUI:C0750979
has_exact_synonym: adult brain tumor
has_exact_synonym: adult malignant brain neoplasm
has_exact_synonym: brain neoplasm
has_exact_synonym: brain neoplasm, adult
has_exact_synonym: malignant brain tumour
has_exact_synonym: malignant primary brain neoplasm
has_exact_synonym: malignant primary brain tumor
has_exact_synonym: malignant tumor of Brain
has_exact_synonym: malignant tumor of adult brain
has_exact_synonym: neoplasm of brain
has_exact_synonym: primary brain neoplasm
has_exact_synonym: primary brain tumor
has_exact_synonym: primary malignant neoplasm of brain
has_exact_synonym: tumor of the Brain
in_subset: DO FlyBase slim
in_subset: DO cancer slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

substernal goiter
type: Class
subclass of: goiter
id: DOID:13200
database_cross_reference: SNOMEDCT_US_2020_03_01:66392007
database_cross_reference: MESH:D006045
has_exact_synonym: Retrosternal thyroid goiter
has_exact_synonym: Retrosternal thyroid goitre
has_exact_synonym: Substernal goiter
has_exact_synonym: Substernal goitre
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0018024
has_exact_synonym: substernal goitre
imported from: doid.owl

proliferative diabetic retinopathy
type: Class
subclass of: diabetic retinopathy
database_cross_reference: NCI:C84457
database_cross_reference: ICD9CM:362.02
has_exact_synonym: PDR
database_cross_reference: UMLS_CUI:C0154830
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:154679002
id: DOID:13207
in_subset: NCIthesaurus
imported from: doid.owl

right bundle branch block
type: Class
subclass of: heart conduction disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155704
database_cross_reference: SNOMEDCT_US_2020_03_01:46319007
id: DOID:13209
database_cross_reference: ICD9CM:426.51
has_exact_synonym: Right bundle branch block with left posterior fascicular block
imported from: doid.owl

uterine fibroid
type: Class
subclass of: uterine benign neoplasm
definition: An uterine benign neoplasm derived from the smooth muscle layer of the uterus.
database_cross_reference: UMLS_CUI:C0042133
database_cross_reference: SNOMEDCT_US_2020_03_01:95315005
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0000731
database_cross_reference: ICD9CM:218
database_cross_reference: MESH:D007889
database_cross_reference: NCI:C3434
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:150699
database_cross_reference: ICD10CM:D25
id: DOID:13223
has_exact_synonym: Plexiform leiomyoma
has_exact_synonym: UTERUS FIBROMA
has_exact_synonym: leiomyoma of Corpus Uteri
has_exact_synonym: uterine leiomyoma
in_subset: NCIthesaurus
imported from: doid.owl

lung cancer
type: Class
subclass of: respiratory system cancer
subclass of: lung disease
database_cross_reference: OMIM:211980
database_cross_reference: SNOMEDCT_US_2020_03_01:187868006
database_cross_reference: OMIM:608935
definition: A respiratory system cancer that is located_in the lung.
has_alternative_id: DOID:13075
database_cross_reference: OMIM:612593
database_cross_reference: OMIM:612571
database_cross_reference: OMIM:614210
id: DOID:1324
has_alternative_id: DOID:1322
database_cross_reference: UMLS_CUI:C0024624
database_cross_reference: ICD9CM:162.4
database_cross_reference: ICD9CM:162.3
has_alternative_id: DOID:9881
database_cross_reference: ICD9CM:162.8
database_cross_reference: UMLS_CUI:C0153493
database_cross_reference: ICD9CM:162.5
database_cross_reference: UMLS_CUI:C0153491
database_cross_reference: SNOMEDCT_US_2020_03_01:187874006
database_cross_reference: UMLS_CUI:C0153492
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C34.3
database_cross_reference: SNOMEDCT_US_2020_03_01:187860004
database_cross_reference: ICD10CM:C34.2
database_cross_reference: ICD10CM:C34.1
database_cross_reference: SNOMEDCT_US_2020_03_01:187864008
has_related_synonym: lung neoplasm
in_subset: TopNodes DOcancerslim
imported from: doid.owl

tooth resorption
type: Class
subclass of: teeth hard tissue disease
database_cross_reference: UMLS_CUI:C0040451
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:70931000
database_cross_reference: ICD10CM:K03.3
database_cross_reference: ICD9CM:521.4
database_cross_reference: MESH:D014091
id: DOID:13240
imported from: doid.owl

bronchus cancer
type: Class
subclass of: respiratory system cancer
subclass of: bronchial disease
database_cross_reference: ICD10CM:C34
database_cross_reference: ICD9CM:162.9
id: DOID:1325
definition: A respiratory system cancer that is located_in the bronchus.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:187875007
database_cross_reference: UMLS_CUI:C0348343
has_exact_synonym: malignant neoplasm of bronchus and lung
has_exact_synonym: malignant neoplasm of bronchus or lung
imported from: doid.owl

diarrhea
type: Class
subclass of: gastrointestinal system disease
id: DOID:13250
database_cross_reference: MESH:D004403
database_cross_reference: UMLS_CUI:C0013369
database_cross_reference: SNOMEDCT_US_2020_03_01:154268000
definition: A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.
database_cross_reference: ICD9CM:009.2
has_alternative_id: DOID:0050006
comment: diarrhea is both a disease and a symptom [ms]
has_related_synonym: diarrhea of presumed infectious origin
has_related_synonym: diarrhoea
has_obo_namespace: disease_ontology
in_subset: GOLD
imported from: doid.owl

typhoid fever
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: GARD:9564
database_cross_reference: SNOMEDCT_US_2020_03_01:186091002
database_cross_reference: ICD10CM:A01.0
database_cross_reference: UMLS_CUI:C0041466
definition: A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.
id: DOID:13258
database_cross_reference: NCI:C35089
database_cross_reference: ICD9CM:002.0
database_cross_reference: MESH:D014435
has_exact_synonym: Typhoid
has_obo_namespace: disease_ontology
has_alternative_id: DOID:3054
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

porphyria
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
has_exact_synonym: Hematoporphyria
database_cross_reference: UMLS_CUI:C0032708
database_cross_reference: ICD9CM:277.1
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E80.20
database_cross_reference: NCI:C97096
id: DOID:13268
database_cross_reference: MESH:D011164
database_cross_reference: SNOMEDCT_US_2020_03_01:190912004
database_cross_reference: GARD:10353
has_exact_synonym: Porphyrinopathy
has_exact_synonym: disorder of porphyrin and hem metabolism
has_exact_synonym: disorder of porphyrin metabolism
in_subset: NCIthesaurus
imported from: doid.owl

hereditary coproporphyria
type: Class
subclass of: acute porphyria
database_cross_reference: MESH:D046349
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84759
has_exact_synonym: Hereditary coproporphyria
database_cross_reference: OMIM:121300
id: DOID:13269
database_cross_reference: SNOMEDCT_US_2020_03_01:7425008
database_cross_reference: GARD:6619
has_obo_namespace: disease_ontology
has_exact_synonym: Coproporphyrinogen oxidase deficiency
database_cross_reference: UMLS_CUI:C0162531
database_cross_reference: ICD10CM:E80.29
has_exact_synonym: hereditary coproporphyria porphyria
in_subset: NCIthesaurus
imported from: doid.owl

erythropoietic protoporphyria
type: Class
subclass of: acute porphyria
database_cross_reference: MESH:D046351
definition: An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
has_exact_synonym: EPP
database_cross_reference: OMIM:177000
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84698
database_cross_reference: ICD10CM:E80.0
has_obo_namespace: disease_ontology
id: DOID:13270
database_cross_reference: ORDO:79278
has_exact_synonym: Erythropoietic protoporphyria
database_cross_reference: GARD:4527
database_cross_reference: SNOMEDCT_US_2020_03_01:51022005
database_cross_reference: OMIM:300752
database_cross_reference: UMLS_CUI:C0162568
has_exact_synonym: Protoporphyria
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

cutaneous porphyria
type: Class
subclass of: porphyria
subclass of: skin disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84697
database_cross_reference: ICD10CM:E80.0
database_cross_reference: SNOMEDCT_US_2020_03_01:67312003
id: DOID:13271
database_cross_reference: UMLS_CUI:C0162530
database_cross_reference: GARD:4446
database_cross_reference: OMIM:263700
has_exact_synonym: Erythropoietic porphyria
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D017092
in_subset: NCIthesaurus
imported from: doid.owl

Rift Valley fever
type: Class
subclass of: viral infectious disease
database_cross_reference: NCI:C128419
definition: A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites.
database_cross_reference: SNOMEDCT_US_2020_03_01:7077006
database_cross_reference: UMLS_CUI:C0035613
database_cross_reference: MESH:D012295
database_cross_reference: ICD10CM:A92.4
id: DOID:1328
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

intestinal tuberculosis
type: Class
subclass of: gastrointestinal tuberculosis
subclass of: intestinal disease
database_cross_reference: UMLS_CUI:C0152724
definition: A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting.
database_cross_reference: ICD9CM:014.8
has_obo_namespace: disease_ontology
id: DOID:13282
has_exact_synonym: tuberculosis of intestine
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

Scheuermann's disease
type: Class
subclass of: spinal disease
subclass of: osteochondrosis
database_cross_reference: GARD:7610
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C34999
database_cross_reference: OMIM:181440
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0036310
id: DOID:13300
database_cross_reference: MESH:D012544
database_cross_reference: ICD9CM:732.0
database_cross_reference: ICD10CM:M42.0
database_cross_reference: SNOMEDCT_US_2020_03_01:53406005
definition: An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.
has_exact_synonym: Juvenile osteochondritis of the spine
has_exact_synonym: Juvenile osteochondrosis of Scheurermann
has_exact_synonym: Juvenile osteochondrosis of spine
has_narrow_synonym: Scheuermann disease
has_exact_synonym: Scheuermann's kyphosis
has_exact_synonym: Sherman's Disease
in_subset: NCIthesaurus
imported from: doid.owl

exocrine pancreatic insufficiency
type: Class
subclass of: pancreas disease
database_cross_reference: NCI:C84316
database_cross_reference: UMLS_CUI:C0267963
database_cross_reference: MESH:D010188
id: DOID:13316
database_cross_reference: SNOMEDCT_US_2020_03_01:47367009
has_obo_namespace: disease_ontology
has_exact_synonym: Exocrine pancreatic insufficiency
database_cross_reference: ICD10CM:K86.81
in_subset: NCIthesaurus
imported from: doid.owl

hyperinsulinemic hypoglycemia
type: Class
subclass of: carbohydrate metabolic disorder
has_alternative_id: DOID:9996
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:42681006
database_cross_reference: NCI:C4375
id: DOID:13317
database_cross_reference: ICD10CM:E16.9
has_exact_synonym: Islet cell hyperplasia
database_cross_reference: UMLS_CUI:C0027773
definition: A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D046768
has_exact_synonym: nesidioblastosis
has_exact_synonym: persistent hyperinsulinemia hypoglycemia of infancy
in_subset: NCIthesaurus
imported from: doid.owl

diabetic cataract
type: Class
subclass of: cataract
database_cross_reference: SNOMEDCT_US_2020_03_01:43959009
database_cross_reference: ICD9CM:366.41
definition: A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.
has_exact_synonym: Cataract - diabetic
database_cross_reference: UMLS_CUI:C0011876
has_obo_namespace: disease_ontology
id: DOID:13328
imported from: doid.owl

congenital toxoplasmosis
type: Class
subclass of: physical disorder
subclass of: toxoplasmosis
database_cross_reference: SNOMEDCT_US_2020_03_01:268875000
database_cross_reference: UMLS_CUI:C0040560
database_cross_reference: NCI:C50503
definition: A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.
has_exact_synonym: Congenital toxoplasmosis
id: DOID:13336
database_cross_reference: MESH:D014125
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:P37.1
database_cross_reference: GARD:10326
has_exact_synonym: Toxoplasmosis - congen.
in_subset: NCIthesaurus
imported from: doid.owl

pedophilia
type: Class
subclass of: paraphilia disorder
database_cross_reference: ICD9CM:302.2
database_cross_reference: UMLS_CUI:C0030764
database_cross_reference: NCI:C94355
database_cross_reference: MESH:D010378
database_cross_reference: SNOMEDCT_US_2020_03_01:192516001
id: DOID:13351
database_cross_reference: ICD10CM:F65.4
has_exact_synonym: Paedophilia
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

chondromalacia patellae
type: Class
subclass of: bone disease
subclass of: chondromalacia
has_obo_namespace: disease_ontology
has_exact_synonym: Chondromalacia of patella
database_cross_reference: OMIM:168900
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:M22.4
database_cross_reference: MESH:D046789
database_cross_reference: SNOMEDCT_US_2020_03_01:156521009
database_cross_reference: ICD9CM:717.7
id: DOID:13357
has_exact_synonym: Chondromalacia patellae
database_cross_reference: UMLS_CUI:C0008475
has_exact_synonym: softening of articular cartilage of patella
imported from: doid.owl

Ehlers-Danlos syndrome
type: Class
subclass of: collagen disease
definition: A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
database_cross_reference: GARD:6322
id: DOID:13359
database_cross_reference: NCI:C34568
has_exact_synonym: Cutis hyperelastica
database_cross_reference: UMLS_CUI:C0013720
database_cross_reference: OMIM:PS130000
comment: OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS].
database_cross_reference: ICD9CM:756.83
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14696
database_cross_reference: ICD10CM:Q79.6
database_cross_reference: MESH:D004535
database_cross_reference: SNOMEDCT_US_2020_03_01:268352002
has_exact_synonym: elastic skin
in_subset: NCIthesaurus
imported from: doid.owl

reading disorder
type: Class
subclass of: learning disability
database_cross_reference: UMLS_CUI:C0154631
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:315.09
definition: A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process.
id: DOID:13365
imported from: doid.owl

Stiff-Person syndrome
type: Class
subclass of: movement disease
database_cross_reference: ICD9CM:333.91
database_cross_reference: GARD:5023
has_obo_namespace: disease_ontology
id: DOID:13366
definition: A movement disease that is of unknown etiology characterized by progressive rigidity.
database_cross_reference: SNOMEDCT_US_2020_03_01:5217008
database_cross_reference: OMIM:184850
database_cross_reference: MESH:D016750
database_cross_reference: ICD10CM:G25.82
database_cross_reference: NCI:C85170
has_exact_synonym: Stiff-man syndrome
database_cross_reference: UMLS_CUI:C0085292
has_exact_synonym: stiff man syndrome
in_subset: NCIthesaurus
imported from: doid.owl

tinea manuum
type: Class
subclass of: skin disease
subclass of: dermatophytosis
id: DOID:13369
database_cross_reference: SNOMEDCT_US_2020_03_01:48971001
database_cross_reference: UMLS_CUI:C0153246
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:B35.2
definition: A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling.
has_exact_synonym: Dermatophytosis of hand
database_cross_reference: ICD9CM:110.2
has_exact_synonym: Tinea manus
imported from: doid.owl

scrub typhus
type: Class
subclass of: typhus
database_cross_reference: MESH:D012612
definition: A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy.
has_related_synonym: Chigger-borne rickettsiosis
database_cross_reference: SNOMEDCT_US_2020_03_01:73911003
has_related_synonym: Chigger-borne typhus
has_obo_namespace: disease_ontology
id: DOID:13371
database_cross_reference: UMLS_CUI:C0036472
database_cross_reference: ICD10CM:A75.3
database_cross_reference: ICD9CM:081.2
has_exact_synonym: Japanese river fever
has_exact_synonym: Kedani fever
has_related_synonym: Mite-borne rickettsiosis
has_related_synonym: Mite-borne typhus
has_related_synonym: Scrub (mite-borne) typhus
has_exact_synonym: Scrub mite-borne typhus
has_related_synonym: Tropical typhus
has_exact_synonym: Tsutsugamushi
has_exact_synonym: Tsutsugamushi disease
has_related_synonym: Tsutsugamushi fever
has_related_synonym: Typhus fever due to Rickettsia tsutsugamushi
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

alpha 1-antitrypsin deficiency
type: Class
subclass of: plasma protein metabolism disease
database_cross_reference: NCI:C84397
database_cross_reference: GARD:5784
has_exact_synonym: AAT deficiency
database_cross_reference: SNOMEDCT_US_2020_03_01:30188007
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:E88.01
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0221757
database_cross_reference: ICD9CM:273.4
id: DOID:13372
database_cross_reference: MESH:D019896
database_cross_reference: OMIM:613490
definition: A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

fibrodysplasia ossificans progressiva
type: Class
subclass of: autosomal dominant disease
subclass of: connective tissue disease
database_cross_reference: OMIM:135100
database_cross_reference: NCI:C3040
database_cross_reference: ICD10CM:M61.1
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:337
database_cross_reference: ICD9CM:728.11
database_cross_reference: MESH:D009221
database_cross_reference: UMLS_CUI:C0016037
definition: A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
id: DOID:13374
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6445
database_cross_reference: SNOMEDCT_US_2020_03_01:82725007
has_exact_synonym: Stone Man Syndrome
has_exact_synonym: myositis ossificans progressiva
has_exact_synonym: progressive myositis ossificans
has_exact_synonym: progressive ossifying myositis
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Kawasaki disease
type: Class
subclass of: lymphadenitis
database_cross_reference: EFO:0004246
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:6816
database_cross_reference: MESH:D009080
database_cross_reference: OMIM:611775
database_cross_reference: ICD9CM:446.1
database_cross_reference: UMLS_CUI:C0026691
database_cross_reference: ICD10CM:M30.3
database_cross_reference: NCI:C34825
has_obo_namespace: disease_ontology
definition: A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
id: DOID:13378
has_exact_synonym: Kawasaki's disease
has_exact_synonym: MLNS
database_cross_reference: SNOMEDCT_US_2020_03_01:75053002
has_exact_synonym: acute febrile MCLS
has_exact_synonym: acute febrile mucocutaneous lymph node syndrome
has_exact_synonym: mucocutaneous lymph node syndrome
in_subset: NCIthesaurus
imported from: doid.owl

congenital dyserythropoietic anemia
type: Class
subclass of: congenital hemolytic anemia
has_obo_namespace: disease_ontology
id: DOID:1338
definition: A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
database_cross_reference: GARD:1999
database_cross_reference: OMIM:PS224120
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0002876
database_cross_reference: ORDO:85
database_cross_reference: NCI:C84646
database_cross_reference: MESH:D000742
database_cross_reference: ICD10CM:D64.4
database_cross_reference: SNOMEDCT_US_2020_03_01:191272005
has_exact_synonym: congenital dyshaematopoietic anaemia
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

pernicious anemia
type: Class
subclass of: nutritional deficiency disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:281.0
definition: A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.
has_exact_synonym: Addison's anaemia
has_exact_synonym: Biermer's anemia
id: DOID:13381
database_cross_reference: NCI:C2871
database_cross_reference: MESH:D000752
database_cross_reference: UMLS_CUI:C0002892
database_cross_reference: GARD:12671
database_cross_reference: SNOMEDCT_US_2020_03_01:191139001
has_exact_synonym: ANEMIA PERNICIOUS
has_exact_synonym: Biermer's anaemia
database_cross_reference: ICD10CM:D51.0
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:170900
has_exact_synonym: pernicious anaemia
in_subset: NCIthesaurus
imported from: doid.owl

megaloblastic anemia
type: Class
subclass of: macrocytic anemia
database_cross_reference: NCI:C34382
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000749
database_cross_reference: SNOMEDCT_US_2020_03_01:191138009
database_cross_reference: OMIM:613839
definition: A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
comment: Xref MGI.
id: DOID:13382
has_related_synonym: IGS
has_exact_synonym: Imerslund-Grasbeck syndrome
has_exact_synonym: MGA1 Norwegian type
database_cross_reference: UMLS_CUI:C0002888
has_exact_synonym: Grasbeck-Imerslund syndrome
database_cross_reference: OMIM:261100
database_cross_reference: ICD10CM:D53.1
has_exact_synonym: RH-MGA1
has_exact_synonym: megaloblastic anaemia
has_exact_synonym: recessive hereditary megaloblastic anaemia 1
has_exact_synonym: recessive hereditary megaloblastic anemia 1
in_subset: NCIthesaurus
imported from: doid.owl

Diamond-Blackfan anemia
type: Class
subclass of: congenital hypoplastic anemia
database_cross_reference: OMIM:PS105650
definition: A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
has_exact_synonym: Blackfan - Diamond syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:188588001
database_cross_reference: MESH:D029503
id: DOID:1339
database_cross_reference: NCI:C61236
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D61.01
database_cross_reference: GARD:6274
database_cross_reference: ORDO:124
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: chronic constitutional pure red cell anaemia
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

color blindness
type: Class
subclass of: blindness
database_cross_reference: UMLS_CUI:C0242225
definition: A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
has_exact_synonym: BLINDNESS COLOR
has_exact_synonym: Colour blindness
has_exact_synonym: Colour vision deficiency
id: DOID:13399
database_cross_reference: NCI:C3891
database_cross_reference: ICD9CM:368.5
database_cross_reference: MESH:D003117
database_cross_reference: ICD10CM:H53.5
database_cross_reference: SNOMEDCT_US_2020_03_01:193683001
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

pure red-cell aplasia
type: Class
subclass of: aplastic anemia
database_cross_reference: MESH:D012010
database_cross_reference: NCI:C34974
database_cross_reference: UMLS_CUI:C0034902
database_cross_reference: SNOMEDCT_US_2020_03_01:191252000
database_cross_reference: GARD:7504
id: DOID:1340
has_exact_synonym: Pure Red cell Aplasia
has_exact_synonym: Pure red cell aplasia
has_exact_synonym: Red cell hypoplasia
has_obo_namespace: disease_ontology
has_exact_synonym: primary red cell aplasia
in_subset: NCIthesaurus
imported from: doid.owl

angioid streaks
type: Class
subclass of: retinal disease
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:607140
database_cross_reference: UMLS_CUI:C0002982
database_cross_reference: MESH:D000793
id: DOID:13401
imported from: doid.owl

skin sarcoidosis
type: Class
subclass of: sarcoidosis
subclass of: skin disease
database_cross_reference: UMLS_CUI:C0036203
database_cross_reference: SNOMEDCT_US_2020_03_01:55941000
database_cross_reference: ICD10CM:D86.3
has_exact_synonym: Cutaneous Sarcoidosis
has_exact_synonym: Cutaneous sarcoid
has_exact_synonym: Cutaneous sarcoidosis
database_cross_reference: NCI:C34996
id: DOID:13402
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

cardiac sarcoidosis
type: Class
subclass of: sarcoidosis
definition: A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle.
has_exact_synonym: Cardiac sarcoidosis
database_cross_reference: NCI:C35589
database_cross_reference: SNOMEDCT_US_2020_03_01:75403004
id: DOID:13405
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0392077
in_subset: NCIthesaurus
imported from: doid.owl

hepatic encephalopathy
type: Class
subclass of: brain disease
definition: A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.
database_cross_reference: UMLS_CUI:C0019151
database_cross_reference: MESH:D006501
database_cross_reference: GARD:10452
database_cross_reference: ICD9CM:572.2
has_exact_synonym: Portal-systemic encephalopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:197332007
id: DOID:13413
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C79596
database_cross_reference: ICD10CM:K72
in_subset: NCIthesaurus
imported from: doid.owl

congenital hypoplastic anemia
type: Class
subclass of: physical disorder
subclass of: aplastic anemia
database_cross_reference: ICD10CM:D61.01
database_cross_reference: UMLS_CUI:C0702159
id: DOID:1342
database_cross_reference: UMLS_CUI:C0949116
database_cross_reference: SNOMEDCT_US_2020_03_01:267523003
database_cross_reference: MESH:D029502
database_cross_reference: ICD10CM:D61.0
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:284.0
database_cross_reference: SNOMEDCT_US_2020_03_01:191236003
has_alternative_id: DOID:13639
has_related_synonym: Constitutional aplastic anaemia
has_exact_synonym: congenital aplastic anaemia
has_exact_synonym: congenital aplastic anemia
has_exact_synonym: congenital hypoplastic anaemia
imported from: doid.owl

urethritis
type: Class
subclass of: urethral disease
database_cross_reference: UMLS_CUI:C0311389
id: DOID:1343
database_cross_reference: NCI:C26904
database_cross_reference: SNOMEDCT_US_2020_03_01:154388003
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0041976
has_alternative_id: DOID:2863
database_cross_reference: SNOMEDCT_US_2020_03_01:31822004
database_cross_reference: MESH:D014526
database_cross_reference: ICD9CM:597.80
database_cross_reference: ICD10CM:N34.2
has_exact_synonym: Non-Gonococcal Urethritis
has_exact_synonym: Nongonococcal urethritis
in_subset: NCIthesaurus
imported from: doid.owl

glanders
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0017589
database_cross_reference: NCI:C34638
id: DOID:13444
database_cross_reference: GARD:9536
database_cross_reference: ICD9CM:024
database_cross_reference: ICD10CM:A24.0
database_cross_reference: SNOMEDCT_US_2020_03_01:4639008
has_exact_synonym: Farcy pipes
has_exact_synonym: Infection due to Pseudomonas mallei
database_cross_reference: MESH:D005896
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

basilar artery occlusion
type: Class
subclass of: artery disease
subclass of: occlusion precerebral artery
id: DOID:13446
database_cross_reference: ICD10CM:I65.1
database_cross_reference: ICD9CM:433.0
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:78658006
database_cross_reference: UMLS_CUI:C0265098
imported from: doid.owl

coccidioidomycosis
type: Class
subclass of: primary systemic mycosis
has_obo_namespace: disease_ontology
has_alternative_id: DOID:13981
database_cross_reference: ICD9CM:114
id: DOID:13450
database_cross_reference: UMLS_CUI:C0009186
database_cross_reference: ICD10CM:B38
database_cross_reference: GARD:9525
database_cross_reference: NCI:C84642
definition: A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.
database_cross_reference: SNOMEDCT_US_2020_03_01:266218008
database_cross_reference: MESH:D003047
has_exact_synonym: primary extrapulmonary coccidioidomycosis
in_subset: NCIthesaurus
imported from: doid.owl

scleritis
type: Class
subclass of: scleral disease
database_cross_reference: GARD:12911
id: DOID:13452
database_cross_reference: UMLS_CUI:C0036416
database_cross_reference: NCI:C119046
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015423
database_cross_reference: ICD10CM:H15.0
database_cross_reference: SNOMEDCT_US_2020_03_01:155201000
database_cross_reference: ICD9CM:379.00
in_subset: NCIthesaurus
imported from: doid.owl

urethral intrinsic sphincter deficiency
type: Class
subclass of: urethral disease
database_cross_reference: ICD9CM:599.82
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:N36.42
database_cross_reference: UMLS_CUI:C0375381
database_cross_reference: SNOMEDCT_US_2020_03_01:16031000119101
id: DOID:13461
has_exact_synonym: Intrinsic (urethral) sphincter deficiency [ISD]
imported from: doid.owl

balanitis xerotica obliterans
type: Class
subclass of: balanitis
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3523
id: DOID:13477
definition: A balantitis characterized by white plaques or patches on genitals.
database_cross_reference: UMLS_CUI:C0152460
has_exact_synonym: Penile Lichen Sclerosus
database_cross_reference: SNOMEDCT_US_2020_03_01:198028006
database_cross_reference: ICD9CM:607.81
in_subset: NCIthesaurus
imported from: doid.owl

thanatophoric dysplasia
type: Class
subclass of: osteochondrodysplasia
database_cross_reference: NCI:C85187
database_cross_reference: ORDO:1860
database_cross_reference: OMIM:187601
database_cross_reference: OMIM:187600
database_cross_reference: SNOMEDCT_US_2020_03_01:29352008
database_cross_reference: UMLS_CUI:C0039743
database_cross_reference: OMIM:273680
definition: An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
database_cross_reference: ORDO:93274
database_cross_reference: ORDO:93275
has_obo_namespace: disease_ontology
database_cross_reference: GARD:85
id: DOID:13481
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
database_cross_reference: ORDO:2655
database_cross_reference: MESH:D013796
database_cross_reference: ICD10CM:Q77.1
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Proteus syndrome
type: Class
subclass of: syndrome
database_cross_reference: OMIM:176920
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7475
id: DOID:13482
database_cross_reference: NCI:C85032
database_cross_reference: UMLS_CUI:C0085261
definition: A syndrome that is characterized by overgrowth of the bones, skin, and other tissues.
database_cross_reference: SNOMEDCT_US_2020_03_01:394527003
database_cross_reference: MESH:D016715
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Wiedemann's syndrome
in_subset: NCIthesaurus
imported from: doid.owl

childhood disintegrative disease
type: Class
subclass of: pervasive developmental disorder
database_cross_reference: NCI:C97164
database_cross_reference: UMLS_CUI:C0236791
id: DOID:13487
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:299.1
has_exact_synonym: Disintegrative psychosis
database_cross_reference: GARD:6040
has_exact_synonym: Heller's syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:71961003
database_cross_reference: ICD10CM:F84.3
definition: A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress.
has_exact_synonym: Symbiotic psychosis
in_subset: NCIthesaurus
imported from: doid.owl

urethral syndrome
type: Class
subclass of: urethral disease
database_cross_reference: UMLS_CUI:C0156279
database_cross_reference: ICD9CM:597.81
database_cross_reference: ICD10CM:N34.3
has_obo_namespace: disease_ontology
id: DOID:13498
database_cross_reference: SNOMEDCT_US_2020_03_01:31273004
imported from: doid.owl

paranasal sinus benign neoplasm
type: Class
subclass of: respiratory system benign neoplasm
subclass of: paranasal sinus disease
database_cross_reference: NCI:C7488
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0030470
database_cross_reference: MESH:D010255
database_cross_reference: SNOMEDCT_US_2020_03_01:126675008
id: DOID:1350
has_exact_synonym: neoplasm of accessory sinus
has_exact_synonym: tumor of Accessory sinus
in_subset: NCIthesaurus
imported from: doid.owl

Mobius syndrome
type: Class
subclass of: facial nerve disease
database_cross_reference: SNOMEDCT_US_2020_03_01:89444000
id: DOID:13501
database_cross_reference: OMIM:157900
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:Q87.0
definition: A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
database_cross_reference: GARD:8549
database_cross_reference: UMLS_CUI:C0221060
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84893
database_cross_reference: MESH:D020331
has_exact_synonym: Moebius congenital oculofacial paralysis
has_exact_synonym: Oromandibular-limb hypogenesis spectrum
in_subset: NCIthesaurus
imported from: doid.owl

trigonitis
type: Class
subclass of: cystitis
database_cross_reference: NCI:C123175
database_cross_reference: ICD9CM:595.3
id: DOID:13507
database_cross_reference: ICD10CM:N30.3
database_cross_reference: SNOMEDCT_US_2020_03_01:155885003
database_cross_reference: UMLS_CUI:C1261278
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

tuberous sclerosis
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: OMIM:PS191100
database_cross_reference: NCI:C3424
has_exact_synonym: Bourneville's disease
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: SNOMEDCT_US_2020_03_01:157033002
database_cross_reference: UMLS_CUI:C0041341
id: DOID:13515
database_cross_reference: ICD10CM:Q85.1
definition: A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
database_cross_reference: ICD9CM:759.5
database_cross_reference: GARD:7830
has_exact_synonym: Tuberose sclerosis
has_exact_synonym: cerebral sclerosis
has_obo_namespace: disease_ontology
has_exact_synonym: Epiloia
database_cross_reference: MESH:D014402
has_exact_synonym: Tuberous sclerosis syndrome
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

paranasal sinus disease
type: Class
subclass of: nose disease
database_cross_reference: MESH:D010254
database_cross_reference: UMLS_CUI:C0030469
database_cross_reference: NCI:C26843
database_cross_reference: SNOMEDCT_US_2020_03_01:7393007
id: DOID:1352
has_obo_namespace: disease_ontology
has_exact_synonym: disorder of nasal sinus
in_subset: NCIthesaurus
imported from: doid.owl

tetanus neonatorum
type: Class
subclass of: tetanus
database_cross_reference: ICD10CM:A33
database_cross_reference: ICD9CM:771.3
database_cross_reference: NCI:C116814
id: DOID:13521
has_exact_synonym: Tetanus neonatorum
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0343312
database_cross_reference: SNOMEDCT_US_2020_03_01:43424001
definition: A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion.
has_exact_synonym: neonatal tetanus
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

loiasis
type: Class
subclass of: filariasis
subclass of: skin disease
subclass of: eye disease
has_obo_namespace: disease_ontology
definition: A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis.
database_cross_reference: NCI:C34784
id: DOID:13523
database_cross_reference: SNOMEDCT_US_2020_03_01:44250009
database_cross_reference: GARD:3283
database_cross_reference: ICD10CM:B74.3
database_cross_reference: UMLS_CUI:C0023968
database_cross_reference: MESH:D008118
database_cross_reference: ICD9CM:125.2
in_subset: NCIthesaurus
imported from: doid.owl

osteopetrosis
type: Class
subclass of: osteosclerosis
database_cross_reference: NCI:C26840
database_cross_reference: ICD9CM:756.52
database_cross_reference: GARD:4155
database_cross_reference: OMIM:PS259700
database_cross_reference: ORDO:667
has_obo_namespace: disease_ontology
definition: An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
database_cross_reference: UMLS_CUI:C0029454
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference: MESH:D010022
id: DOID:13533
has_exact_synonym: Albers-Schonberg disease
database_cross_reference: ICD10CM:Q78.2
database_cross_reference: OMIM:PS607634
database_cross_reference: SNOMEDCT_US_2020_03_01:205500005
has_exact_synonym: marble bone
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hyperparathyroidism
type: Class
subclass of: parathyroid gland disease
database_cross_reference: UMLS_CUI:C0020502
database_cross_reference: MESH:D006961
database_cross_reference: NCI:C48259
database_cross_reference: OMIM:610071
id: DOID:13543
database_cross_reference: ORDO:99879
database_cross_reference: ICD9CM:252.0
has_obo_namespace: disease_ontology
comment: Xref MGI.
definition: A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
database_cross_reference: OMIM:145000
database_cross_reference: OMIM:145001
database_cross_reference: SNOMEDCT_US_2020_03_01:190451000
database_cross_reference: ICD10CM:E21.3
in_subset: NCIthesaurus
imported from: doid.owl

low tension glaucoma
type: Class
subclass of: open-angle glaucoma
database_cross_reference: MESH:D057066
database_cross_reference: SNOMEDCT_US_2020_03_01:155124000
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H40.12
database_cross_reference: UMLS_CUI:C0152136
definition: An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.
database_cross_reference: ICD9CM:365.12
id: DOID:13544
has_exact_synonym: Normal tension glaucoma
imported from: doid.owl

interval angle-closure glaucoma
type: Class
subclass of: primary angle-closure glaucoma
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154945
database_cross_reference: ICD10CM:H40.23
definition: A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow.
has_exact_synonym: Intermittent angle-closure glaucoma
has_exact_synonym: Prodromal angle closure glaucoma
database_cross_reference: SNOMEDCT_US_2020_03_01:65460003
id: DOID:13549
has_exact_synonym: Angle-closure glaucoma, subacute
database_cross_reference: ICD9CM:365.21
imported from: doid.owl

angle-closure glaucoma
type: Class
subclass of: glaucoma
id: DOID:13550
has_obo_namespace: disease_ontology
has_exact_synonym: ACG - Angle-closure glaucoma
database_cross_reference: SNOMEDCT_US_2020_03_01:270882001
has_exact_synonym: Angle Closure Glaucoma
database_cross_reference: UMLS_CUI:C0017605
has_exact_synonym: Angle-closure glaucoma
database_cross_reference: MESH:D015812
database_cross_reference: NCI:C34639
definition: A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.
has_exact_synonym: Closed angle glaucoma
has_exact_synonym: Narrow cleft glaucoma
has_exact_synonym: primary open-angle glaucoma with narrow angles
in_subset: NCIthesaurus
imported from: doid.owl

optic disk drusen
type: Class
subclass of: optic nerve disease
database_cross_reference: ICD9CM:377.21
database_cross_reference: ICD10CM:H47.32
id: DOID:13561
has_obo_namespace: disease_ontology
has_exact_synonym: Drusen of optic disc
database_cross_reference: MESH:D015594
database_cross_reference: SNOMEDCT_US_2020_03_01:33629003
database_cross_reference: UMLS_CUI:C0029128
has_exact_synonym: optic nerve head drusen
imported from: doid.owl

aspergillosis
type: Class
subclass of: opportunistic mycosis
database_cross_reference: UMLS_CUI:C0004030
definition: An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
database_cross_reference: GARD:5856
database_cross_reference: ICD9CM:117.3
database_cross_reference: MESH:D001228
database_cross_reference: ICD10CM:B44
id: DOID:13564
has_exact_synonym: Infection due to Aspergillus
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:266218008
database_cross_reference: NCI:C2886
in_subset: NCIthesaurus
imported from: doid.owl

twin-to-twin transfusion syndrome
type: Class
subclass of: neonatal anemia
database_cross_reference: MESH:D005330
database_cross_reference: ICD10CM:O43.02
database_cross_reference: UMLS_CUI:C2909036
database_cross_reference: NCI:C113824
has_obo_namespace: disease_ontology
id: DOID:13576
has_exact_synonym: Fetal blood loss from fetal hemorrhage into co-twin
has_exact_synonym: Fetal hemorrhage into co-twin
database_cross_reference: SNOMEDCT_US_2020_03_01:13404009
has_exact_synonym: Twin to twin transfusion
has_exact_synonym: Twin-to-twin blood transfer
in_subset: NCIthesaurus
imported from: doid.owl

cholestasis
type: Class
subclass of: bile duct disease
database_cross_reference: MESH:D002779
id: DOID:13580
database_cross_reference: UMLS_CUI:C0008370
database_cross_reference: NCI:C83006
database_cross_reference: SNOMEDCT_US_2020_03_01:33688009
database_cross_reference: ICD10CM:K83.1
definition: A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
database_cross_reference: ICD9CM:576.2
has_exact_synonym: Obstruction of bile duct
has_exact_synonym: bile occlusion
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

eclampsia
type: Class
subclass of: pre-eclampsia
database_cross_reference: ICD10CM:O15
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C87167
has_alternative_id: DOID:13592
definition: A pre-eclampsia characterized by the presence of seizures.
id: DOID:13593
has_exact_synonym: Eclampsia in puerperium
has_exact_synonym: Eclampsia, postpartum
database_cross_reference: MESH:D004461
database_cross_reference: GARD:6316
has_exact_synonym: Postpartum eclampsia
database_cross_reference: SNOMEDCT_US_2020_03_01:156111007
database_cross_reference: UMLS_CUI:C0013537
in_subset: NCIthesaurus
imported from: doid.owl

biliary atresia
type: Class
subclass of: cholestasis
database_cross_reference: NCI:C34421
definition: A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
database_cross_reference: ICD9CM:751.61
database_cross_reference: ICD10CM:Q44.2
database_cross_reference: UMLS_CUI:C0005411
has_exact_synonym: Atresia of bile duct
has_exact_synonym: Congenital biliary atresia
id: DOID:13608
database_cross_reference: OMIM:210500
database_cross_reference: GARD:12010
database_cross_reference: ORDO:30391
database_cross_reference: MESH:D001656
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:77480004
has_exact_synonym: biliary atresia, congenital
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

frontal sinus benign neoplasm
type: Class
subclass of: paranasal sinus benign neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4419
database_cross_reference: SNOMEDCT_US_2020_03_01:126678005
id: DOID:1361
database_cross_reference: UMLS_CUI:C0345672
has_exact_synonym: neoplasm of frontal sinus
has_exact_synonym: tumor of the Frontal sinus
in_subset: NCIthesaurus
imported from: doid.owl

patent foramen ovale
type: Class
subclass of: atrial heart septal defect
database_cross_reference: UMLS_CUI:C0016522
id: DOID:13620
database_cross_reference: MESH:D054092
database_cross_reference: ICD10CM:Q21.1
database_cross_reference: NCI:C34619
database_cross_reference: SNOMEDCT_US_2020_03_01:268316001
has_exact_synonym: Atrial septal defect within oval fossa
has_exact_synonym: Defect, Patent or persistent, ostium secundum
has_exact_synonym: Ostium secundum type atrial septal defect
has_exact_synonym: Persistent ostium secundum
has_obo_namespace: disease_ontology
has_exact_synonym: foramen ovale patent
in_subset: NCIthesaurus
imported from: doid.owl

campylobacteriosis
type: Class
subclass of: bacterial infectious disease
subclass of: gastroenteritis
database_cross_reference: SNOMEDCT_US_2020_03_01:86500004
has_obo_namespace: disease_ontology
has_exact_synonym: Campylobacteriosis
database_cross_reference: UMLS_CUI:C0006818
database_cross_reference: MESH:D002169
definition: A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever.
id: DOID:13622
has_alternative_id: DOID:13621
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

photokeratitis
type: Class
subclass of: keratitis
id: DOID:13626
database_cross_reference: UMLS_CUI:C0155078
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:370.24
database_cross_reference: NCI:C118750
database_cross_reference: ICD10CM:H16.13
database_cross_reference: SNOMEDCT_US_2020_03_01:1714005
in_subset: NCIthesaurus
imported from: doid.owl

favism
type: Class
subclass of: glucosephosphate dehydrogenase deficiency
definition: A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.
database_cross_reference: NCI:C34607
database_cross_reference: SNOMEDCT_US_2020_03_01:154801000
database_cross_reference: UMLS_CUI:C0015702
id: DOID:13628
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D55.0
database_cross_reference: MESH:D005236
in_subset: NCIthesaurus
imported from: doid.owl

dentine erosion
type: Class
subclass of: tooth erosion
id: DOID:13629
database_cross_reference: ICD9CM:521.32
database_cross_reference: UMLS_CUI:C1456162
has_obo_namespace: disease_ontology
imported from: doid.owl

Fanconi anemia
type: Class
subclass of: congenital hypoplastic anemia
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0015625
database_cross_reference: SNOMEDCT_US_2020_03_01:30575002
id: DOID:13636
database_cross_reference: MESH:D005199
database_cross_reference: ORDO:84
database_cross_reference: GARD:6425
comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
database_cross_reference: OMIM:PS227650
database_cross_reference: ICD10CM:D61.09
database_cross_reference: NCI:C62505
definition: A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
has_exact_synonym: Fanconi anaemia
has_exact_synonym: Fanconi pancytopenia
has_exact_synonym: Fanconi panmyelopathy
has_exact_synonym: Fanconi's anaemia
has_exact_synonym: Fanconi's anemia
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

exfoliation syndrome
type: Class
subclass of: phacogenic glaucoma
subclass of: iris disease
database_cross_reference: OMIM:177650
database_cross_reference: UMLS_CUI:C0206368
comment: OMIM mapping confirmed by DO. [SN].
definition: A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.
database_cross_reference: NCI:C129025
database_cross_reference: EFO:0004235
database_cross_reference: MESH:D017889
id: DOID:13641
database_cross_reference: ICD9CM:365.52
has_obo_namespace: disease_ontology
has_exact_synonym: Pseudoexfoliation glaucoma
has_exact_synonym: Pseudoexfoliation syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:111514006
in_subset: NCIthesaurus
imported from: doid.owl

SAPHO syndrome
type: Class
subclass of: syndrome
database_cross_reference: MESH:D020083
database_cross_reference: SNOMEDCT_US_2020_03_01:60684003
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0263859
database_cross_reference: GARD:7606
database_cross_reference: NCI:C119049
id: DOID:13677
has_exact_synonym: Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
in_subset: NCIthesaurus
imported from: doid.owl

premature ejaculation
type: Class
subclass of: psychosexual disorder
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0033038
database_cross_reference: ICD10CM:F52.4
database_cross_reference: NCI:C94349
id: DOID:13709
database_cross_reference: MESH:D061686
database_cross_reference: SNOMEDCT_US_2020_03_01:123302009
database_cross_reference: ICD9CM:302.75
in_subset: NCIthesaurus
imported from: doid.owl

dental fluorosis
type: Class
subclass of: tooth disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:30265004
database_cross_reference: NCI:C85059
database_cross_reference: UMLS_CUI:C0026618
database_cross_reference: ICD10CM:K00.3
database_cross_reference: ICD9CM:520.3
id: DOID:13711
has_exact_synonym: Intrinsic enamel discolouration of fluorosis
database_cross_reference: MESH:D009050
has_exact_synonym: Mottled teeth
has_exact_synonym: Mottling of enamel
in_subset: NCIthesaurus
imported from: doid.owl

mature cataract
type: Class
subclass of: senile cataract
definition: A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging.
database_cross_reference: UMLS_CUI:C0152257
id: DOID:13717
database_cross_reference: SNOMEDCT_US_2020_03_01:193590000
has_exact_synonym: Total or mature cataract
has_exact_synonym: Total, mature senile cataract
has_obo_namespace: disease_ontology
imported from: doid.owl

neuroschistosomiasis
type: Class
subclass of: schistosomiasis
subclass of: spinal cord disease
subclass of: brain disease
database_cross_reference: MESH:D020818
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0752191
id: DOID:13722
definition: A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure.
imported from: doid.owl

scurvy
type: Class
subclass of: nutritional deficiency disease
database_cross_reference: MESH:D012614
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:13724
database_cross_reference: ICD10CM:E54
database_cross_reference: UMLS_CUI:C0036474
database_cross_reference: NCI:C35010
has_obo_namespace: disease_ontology
definition: A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing.
database_cross_reference: OMIM:240400
database_cross_reference: GARD:10406
database_cross_reference: SNOMEDCT_US_2020_03_01:267493006
in_subset: NCIthesaurus
imported from: doid.owl

beriberi
type: Class
subclass of: thiamine deficiency disease
database_cross_reference: ICD10CM:E51.1
definition: A thiamine deficiency disease that is characterized by being severe and chronic.
database_cross_reference: GARD:9948
id: DOID:13725
database_cross_reference: NCI:C34418
database_cross_reference: UMLS_CUI:C0005122
database_cross_reference: ICD9CM:265.0
database_cross_reference: MESH:D001602
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:267491008
in_subset: NCIthesaurus
imported from: doid.owl

endometrial stromal nodule
type: Class
subclass of: uterine benign neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:189810002
database_cross_reference: NCI:C4262
definition: An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma.
database_cross_reference: UMLS_CUI:C0334485
id: DOID:1373
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

panophthalmitis
type: Class
subclass of: purulent endophthalmitis
database_cross_reference: MESH:D010202
database_cross_reference: ICD9CM:360.02
id: DOID:13732
database_cross_reference: SNOMEDCT_US_2020_03_01:33382000
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0030332
imported from: doid.owl

excessive tearing
type: Class
subclass of: lacrimal apparatus disease
id: DOID:13757
database_cross_reference: UMLS_CUI:C0152227
database_cross_reference: NCI:C50552
database_cross_reference: SNOMEDCT_US_2020_03_01:49393005
database_cross_reference: ICD10CM:H04.2
has_exact_synonym: Epiphora
has_exact_synonym: Excessive tear production
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:375.2
database_cross_reference: MESH:D007766
has_exact_synonym: Watering eye
in_subset: NCIthesaurus
imported from: doid.owl

Pthirus pubis infestation
type: Class
subclass of: lice infestation
database_cross_reference: SNOMEDCT_US_2020_03_01:71011005
database_cross_reference: ICD9CM:132.2
definition: A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin.
database_cross_reference: ICD10CM:B85.3
id: DOID:13760
has_exact_synonym: Infestation by Phthirus pubis
has_exact_synonym: Pediculosis Pubis
has_exact_synonym: Pediculus pubis
has_exact_synonym: Phthiriasis pubis
has_exact_synonym: Phthirus pubis
has_exact_synonym: Phthirus/pediculus pubis - pubic lice - crabs
database_cross_reference: UMLS_CUI:C0030759
database_cross_reference: NCI:C35777
has_exact_synonym: crabs
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
in_subset: sexually transmitted infectious disease
imported from: doid.owl

clonorchiasis
type: Class
subclass of: liver disease
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: UMLS_CUI:C0009021
id: DOID:13767
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D003003
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.
database_cross_reference: ICD10CM:B66.1
has_exact_synonym: Oriental liver fluke disease
database_cross_reference: SNOMEDCT_US_2020_03_01:11938002
database_cross_reference: ICD9CM:121.1
imported from: doid.owl

opisthorchiasis
type: Class
subclass of: gallbladder disease
subclass of: pancreas disease
subclass of: liver disease
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: ICD10CM:B66.0
database_cross_reference: UMLS_CUI:C0029106
id: DOID:13768
database_cross_reference: ICD9CM:121.0
database_cross_reference: SNOMEDCT_US_2020_03_01:187124006
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma.
database_cross_reference: GARD:9746
database_cross_reference: MESH:D009889
has_obo_namespace: disease_ontology
has_exact_synonym: Infection by Opisthorchis
imported from: doid.owl

Addison's disease
type: Class
subclass of: adrenal cortical hypofunction
database_cross_reference: OMIM:103230
has_obo_namespace: disease_ontology
id: DOID:13774
definition: An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
database_cross_reference: GARD:5740
has_exact_synonym: Addison disease, chronic adrenal insufficiency
has_exact_synonym: HYPOADRENOCORTICISM, FAMILIAL
database_cross_reference: NCI:C26689
database_cross_reference: ICD10CM:E27.1
database_cross_reference: MESH:D000224
database_cross_reference: OMIM:240200
database_cross_reference: SNOMEDCT_US_2020_03_01:363732003
database_cross_reference: UMLS_CUI:C0001403
has_exact_synonym: Addison disease
has_exact_synonym: primary adrenocortical insufficiency
has_exact_synonym: primary hypoadrenalism
in_subset: NCIthesaurus
imported from: doid.owl

epidermodysplasia verruciformis
type: Class
subclass of: autosomal recessive disease
subclass of: primary immunodeficiency disease
definition: A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body.
database_cross_reference: UMLS_CUI:C0014522
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004819
database_cross_reference: SNOMEDCT_US_2020_03_01:19138001
database_cross_reference: ORDO:302
database_cross_reference: NCI:C126877
database_cross_reference: GARD:6357
database_cross_reference: OMIM:PS226400
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:13777
in_subset: NCIthesaurus
imported from: doid.owl

chancroid
type: Class
subclass of: primary bacterial infectious disease
subclass of: skin disease
id: DOID:13778
database_cross_reference: ICD9CM:099.0
definition: A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers.
database_cross_reference: MESH:D002602
database_cross_reference: ICD10CM:A57
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:154391003
database_cross_reference: GARD:9522
database_cross_reference: UMLS_CUI:C0007947
has_exact_synonym: Ulcus molle, skin
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

hypermobility syndrome
type: Class
subclass of: arthropathy
database_cross_reference: ICD9CM:728.5
id: DOID:13781
database_cross_reference: UMLS_CUI:C0152093
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:85551004
database_cross_reference: ICD10CM:M35.7
has_exact_synonym: benign joint hypermobility
imported from: doid.owl

acute tympanitis
type: Class
subclass of: tympanic membrane disease
database_cross_reference: SNOMEDCT_US_2020_03_01:297009
id: DOID:13790
database_cross_reference: UMLS_CUI:C0155460
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H73.0
database_cross_reference: ICD9CM:384.00
has_exact_synonym: acute myringitis
imported from: doid.owl

endometrial cancer
type: Class
subclass of: endometriosis
subclass of: uterine cancer
database_cross_reference: MESH:D016889
definition: A uterine cancer that is located_in tissues lining the uterus.
database_cross_reference: NCI:C27815
id: DOID:1380
database_cross_reference: NCI:C3012
database_cross_reference: GARD:11981
has_alternative_id: DOID:5654
database_cross_reference: UMLS_CUI:C0007103
database_cross_reference: KEGG:05213
database_cross_reference: EFO:0004230
database_cross_reference: SNOMEDCT_US_2020_03_01:123844007
database_cross_reference: UMLS_CUI:C0014170
database_cross_reference: OMIM:608089
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C54.1
has_exact_synonym: endometrial Ca
has_exact_synonym: endometrial neoplasm
has_exact_synonym: malignant endometrial neoplasm
has_exact_synonym: malignant neoplasm of endometrium
has_exact_synonym: neoplasm of endometrium
has_exact_synonym: primary malignant neoplasm of endometrium
has_exact_synonym: tumor of Endometrium
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

inclusion conjunctivitis
type: Class
subclass of: commensal bacterial infectious disease
subclass of: conjunctival disease
database_cross_reference: GARD:6777
database_cross_reference: MESH:D003235
database_cross_reference: ICD10CM:A74.0
database_cross_reference: SNOMEDCT_US_2020_03_01:111840005
database_cross_reference: ICD9CM:077.0
id: DOID:13800
database_cross_reference: UMLS_CUI:C0009770
definition: A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus.
has_exact_synonym: Chlamydial conjunctivitis
has_exact_synonym: Inclusion blennorrhoea
has_related_synonym: Paratrachoma
has_exact_synonym: adult inclusion conjunctivitis
has_obo_namespace: disease_ontology
has_exact_synonym: inclusion blenorrhea
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

familial combined hyperlipidemia
type: Class
subclass of: familial hyperlipidemia
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:48190005
database_cross_reference: ICD10CM:E78.49
database_cross_reference: MESH:D006950
id: DOID:13809
database_cross_reference: NCI:C35637
database_cross_reference: OMIM:144250
database_cross_reference: UMLS_CUI:C0020474
has_obo_namespace: disease_ontology
has_exact_synonym: familial multiple lipoprotein-type hyperlipidemia
has_exact_synonym: hyperbetalipoproteinemia with prebetalipoproteinemia
has_exact_synonym: mixed hyperlipidaemia
has_exact_synonym: type IIb hyperlipoproteinemia
in_subset: NCIthesaurus
imported from: doid.owl

Fox-Fordyce disease
type: Class
subclass of: sweat gland disease
database_cross_reference: GARD:6462
id: DOID:1381
database_cross_reference: MESH:D005588
database_cross_reference: UMLS_CUI:C0016632
has_obo_namespace: disease_ontology
has_exact_synonym: Fox Fordyce disease
database_cross_reference: ICD9CM:705.82
database_cross_reference: ICD10CM:L75.2
definition: A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla.
database_cross_reference: NCI:C84716
database_cross_reference: SNOMEDCT_US_2020_03_01:254682006
in_subset: NCIthesaurus
imported from: doid.owl

lymphogranuloma venereum
type: Class
subclass of: commensal bacterial infectious disease
subclass of: granuloma inguinale
database_cross_reference: SNOMEDCT_US_2020_03_01:266213004
id: DOID:13819
database_cross_reference: UMLS_CUI:C0024286
database_cross_reference: GARD:9545
has_exact_synonym: Durand-Nicolas-Favre disease
database_cross_reference: NCI:C26822
database_cross_reference: MESH:D008219
has_obo_namespace: disease_ontology
definition: A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis.
database_cross_reference: ICD10CM:A55
has_exact_synonym: Climatic or tropical bubo
database_cross_reference: ICD9CM:099.1
has_exact_synonym: Lymphogranuloma inguinale
has_exact_synonym: Poradenitis inguinale
has_exact_synonym: Strumous bubo
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

miliaria
type: Class
subclass of: sweat gland disease
database_cross_reference: MESH:D008883
id: DOID:1382
definition: A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L74.3
database_cross_reference: NCI:C34820
database_cross_reference: UMLS_CUI:C0026113
database_cross_reference: SNOMEDCT_US_2020_03_01:63951004
has_exact_synonym: eccrine miliaria
has_exact_synonym: heat rash
has_exact_synonym: sweat rash
in_subset: NCIthesaurus
imported from: doid.owl

sweat gland disease
type: Class
subclass of: skin disease
database_cross_reference: ICD9CM:705.9
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013543
database_cross_reference: UMLS_CUI:C0038986
database_cross_reference: SNOMEDCT_US_2020_03_01:88232005
definition: A skin disease located_in the sweat glands.
database_cross_reference: ICD10CM:L74.9
id: DOID:1383
imported from: doid.owl

patent ductus arteriosus
type: Class
subclass of: congenital heart disease
database_cross_reference: ICD10CM:Q25.0
database_cross_reference: ICD9CM:747.0
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D004374
database_cross_reference: SNOMEDCT_US_2020_03_01:156928009
database_cross_reference: OMIM:607411
id: DOID:13832
database_cross_reference: UMLS_CUI:C0013274
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7342
database_cross_reference: NCI:C84492
has_exact_synonym: Patent ductus Botalli
has_related_synonym: ductus arteriosus, Patent
in_subset: NCIthesaurus
imported from: doid.owl

abetalipoproteinemia
type: Class
subclass of: autosomal recessive disease
subclass of: hypolipoproteinemia
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D000012
database_cross_reference: GARD:5
database_cross_reference: UMLS_CUI:C0000744
id: DOID:1386
database_cross_reference: SNOMEDCT_US_2020_03_01:83123000
definition: A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E78.6
database_cross_reference: NCI:C84525
database_cross_reference: OMIM:200100
has_exact_synonym: familial hypobetalipoproteinemia
has_exact_synonym: microsomal triglyceride transfer protein deficiency disease
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

acute closed-angle glaucoma
type: Class
subclass of: primary angle-closure glaucoma
database_cross_reference: UMLS_CUI:C0154946
database_cross_reference: SNOMEDCT_US_2020_03_01:30041005
database_cross_reference: ICD9CM:365.22
definition: A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening futher optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H40.21
id: DOID:13862
has_exact_synonym: acute angle-closure glaucoma
imported from: doid.owl

multiple cranial nerve palsy
type: Class
subclass of: glossopharyngeal nerve disease
database_cross_reference: UMLS_CUI:C0154733
database_cross_reference: ICD10CM:G52.7
database_cross_reference: ICD9CM:352.6
has_obo_namespace: disease_ontology
id: DOID:13866
has_exact_synonym: Multiple cranial nerve palsies
database_cross_reference: SNOMEDCT_US_2020_03_01:78152008
has_exact_synonym: Multiple cranial nerve palsy
imported from: doid.owl

hypoactive sexual desire disorder
type: Class
subclass of: psychosexual disorder
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:302.71
database_cross_reference: MESH:D020018
has_exact_synonym: Lack or loss of sexual desire
database_cross_reference: SNOMEDCT_US_2020_03_01:78889008
database_cross_reference: UMLS_CUI:C0020594
database_cross_reference: NCI:C94337
database_cross_reference: ICD10CM:F52.0
id: DOID:13868
in_subset: NCIthesaurus
imported from: doid.owl

hypolipoproteinemia
type: Class
subclass of: lipid metabolism disorder
database_cross_reference: MESH:D007009
database_cross_reference: SNOMEDCT_US_2020_03_01:363140000
id: DOID:1387
has_exact_synonym: Hypolipoproteinaemia
database_cross_reference: UMLS_CUI:C0020623
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:272.5
database_cross_reference: GARD:8394
database_cross_reference: ICD10CM:E78.6
has_related_synonym: Lipoprotein deficiencies
imported from: doid.owl

Tangier disease
type: Class
subclass of: hypolipoproteinemia
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E78.6
id: DOID:1388
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: MESH:D013631
database_cross_reference: OMIM:205400
database_cross_reference: GARD:7731
database_cross_reference: SNOMEDCT_US_2020_03_01:190783007
database_cross_reference: NCI:C85182
database_cross_reference: UMLS_CUI:C0039292
has_exact_synonym: familial alpha-lipoprotein deficiency
has_exact_synonym: familial high density lipoprotein deficiency
has_exact_synonym: familial hypoalphalipoproteinemia
in_subset: NCIthesaurus
imported from: doid.owl

sick sinus syndrome
type: Class
subclass of: sinoatrial node disease
database_cross_reference: OMIM:608567
database_cross_reference: UMLS_CUI:C0037052
database_cross_reference: ORDO:166282
database_cross_reference: SNOMEDCT_US_2020_03_01:266307005
database_cross_reference: NCI:C62244
database_cross_reference: OMIM:163800
database_cross_reference: MESH:D012804
database_cross_reference: ICD10CM:I49.5
id: DOID:13884
has_obo_namespace: disease_ontology
comment: Xref MGI.
has_exact_synonym: sinus node infection
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

polyneuropathy
type: Class
subclass of: peripheral nervous system disease
definition: A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.
database_cross_reference: SNOMEDCT_US_2020_03_01:193166009
database_cross_reference: ICD10CM:A69.22
database_cross_reference: MESH:D011115
database_cross_reference: NCI:C26951
database_cross_reference: UMLS_CUI:C0152025
id: DOID:1389
has_obo_namespace: disease_ontology
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

squamous cell papilloma
type: Class
subclass of: papilloma
database_cross_reference: NCI:C3712
database_cross_reference: MESH:D010212
database_cross_reference: SNOMEDCT_US_2020_03_01:63451008
database_cross_reference: UMLS_CUI:C0205874
id: DOID:139
has_exact_synonym: Epidermoid papilloma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

hypobetalipoproteinemia
type: Class
subclass of: hypolipoproteinemia
definition: A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.
has_obo_namespace: disease_ontology
id: DOID:1390
has_exact_synonym: Hypo-beta-lipoproteinemia
database_cross_reference: MESH:D006995
database_cross_reference: SNOMEDCT_US_2020_03_01:190786004
database_cross_reference: UMLS_CUI:C0020597
imported from: doid.owl

Norum disease
type: Class
subclass of: hypolipoproteinemia
database_cross_reference: UMLS_CUI:C0023195
database_cross_reference: OMIM:245900
database_cross_reference: SNOMEDCT_US_2020_03_01:238091006
database_cross_reference: ICD10CM:E78.6
database_cross_reference: MESH:D007863
id: DOID:1391
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84813
has_obo_namespace: disease_ontology
has_exact_synonym: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
has_exact_synonym: lecithin acyltransferase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

red color blindness
type: Class
subclass of: color blindness
database_cross_reference: ICD9CM:368.51
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:303900
database_cross_reference: MESH:D003117
id: DOID:13910
has_exact_synonym: Protan defect
database_cross_reference: SNOMEDCT_US_2020_03_01:51445007
database_cross_reference: UMLS_CUI:C0155015
has_exact_synonym: Protanopia
imported from: doid.owl

achromatopsia
type: Class
subclass of: color blindness
definition: A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
database_cross_reference: NCI:C84528
database_cross_reference: ICD9CM:368.54
id: DOID:13911
database_cross_reference: ORDO:49382
database_cross_reference: ICD10CM:H53.51
database_cross_reference: SNOMEDCT_US_2020_03_01:56852002
has_obo_namespace: disease_ontology
has_exact_synonym: ACHM
database_cross_reference: MESH:D003117
has_exact_synonym: Monochromatism
database_cross_reference: UMLS_CUI:C0152200
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

irregular astigmatism
type: Class
subclass of: astigmatism
database_cross_reference: ICD10CM:H52.21
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0152194
database_cross_reference: SNOMEDCT_US_2020_03_01:47099006
database_cross_reference: ICD9CM:367.22
id: DOID:13919
imported from: doid.owl

pseudopapilledema
type: Class
subclass of: visual pathway disease
database_cross_reference: UMLS_CUI:C0155300
database_cross_reference: SNOMEDCT_US_2020_03_01:57138009
database_cross_reference: MESH:C562401
id: DOID:1392
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:177800
database_cross_reference: ICD9CM:377.24
comment: OMIM mapping confirmed by DO. [SN].
imported from: doid.owl

eosinophilic esophagitis
type: Class
subclass of: esophagitis
database_cross_reference: OMIM:610247
database_cross_reference: ICD9CM:530.13
database_cross_reference: UMLS_CUI:C0341106
database_cross_reference: MESH:D057765
database_cross_reference: ORDO:73247
database_cross_reference: OMIM:613412
database_cross_reference: NCI:C27105
id: DOID:13922
database_cross_reference: SNOMEDCT_US_2020_03_01:235599003
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: EFO:0004232
definition: An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
database_cross_reference: ICD10CM:K20.0
has_obo_namespace: disease_ontology
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

lacrimal duct obstruction
type: Class
subclass of: lacrimal apparatus disease
database_cross_reference: UMLS_CUI:C0022906
database_cross_reference: MESH:D007767
has_exact_synonym: Blocked lacrimal canaliculus
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:95769009
id: DOID:13929
database_cross_reference: NCI:C34757
has_exact_synonym: Obstruction of lacrimal canaliculus
has_exact_synonym: Obstruction of lacrimal ducts
in_subset: NCIthesaurus
imported from: doid.owl

visual pathway disease
type: Class
subclass of: eye disease
database_cross_reference: ICD10CM:H47.9
definition: An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image.
id: DOID:1393
database_cross_reference: SNOMEDCT_US_2020_03_01:54767005
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35342
database_cross_reference: UMLS_CUI:C0155287
in_subset: NCIthesaurus
imported from: doid.owl

facial paralysis
type: Class
subclass of: facial nerve disease
id: DOID:13934
has_exact_synonym: Facial Palsy
database_cross_reference: SNOMEDCT_US_2020_03_01:90039006
database_cross_reference: MESH:D005158
database_cross_reference: NCI:C26769
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G51.0
database_cross_reference: UMLS_CUI:C0015469
in_subset: NCIthesaurus
imported from: doid.owl

amenorrhea
type: Class
subclass of: female reproductive system disease
database_cross_reference: ICD9CM:626.0
id: DOID:13938
database_cross_reference: UMLS_CUI:C0002453
definition: A female reproductive system disease that is characterized by the absence of menstruation.
database_cross_reference: SNOMEDCT_US_2020_03_01:156034000
database_cross_reference: ICD10CM:N91.2
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000568
database_cross_reference: NCI:C61443
has_exact_synonym: absence of menstruation
has_exact_synonym: amenia
in_subset: NCIthesaurus
imported from: doid.owl

urinary schistosomiasis
type: Class
subclass of: schistosomiasis
subclass of: bladder disease
database_cross_reference: SNOMEDCT_US_2020_03_01:60979006
database_cross_reference: MESH:D012553
database_cross_reference: UMLS_CUI:C0276926
id: DOID:1394
database_cross_reference: NCI:C39294
definition: A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:120.0
has_exact_synonym: Schistosoma Hematobium Infection
has_exact_synonym: Schistosoma haematobium
has_related_synonym: Schistosoma haematobium infection
has_exact_synonym: Schistosoma hematobium infectious disease
has_exact_synonym: Schistosomiasis due to schistosoma haematobium
has_exact_synonym: Schistosomiasis of bladder
has_exact_synonym: Vesical schistosomiasis
has_exact_synonym: bladder Schistosomiasis
has_exact_synonym: cystitis with bilharziasis
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

benign paroxysmal positional nystagmus
type: Class
subclass of: peripheral vertigo
database_cross_reference: UMLS_CUI:C0155502
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:386.11
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:111541001
database_cross_reference: OMIM:193007
database_cross_reference: MESH:D065635
id: DOID:13941
database_cross_reference: OMIM:613106
has_exact_synonym: benign paroxysmal positional vertigo
imported from: doid.owl

CADASIL
type: Class
subclass of: leukodystrophy
database_cross_reference: ORDO:136
database_cross_reference: UMLS_CUI:C0751587
id: DOID:13945
database_cross_reference: OMIM:600142
database_cross_reference: NCI:C84606
database_cross_reference: ICD10CM:I67.850
definition: A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.
database_cross_reference: GARD:1049
database_cross_reference: SNOMEDCT_US_2020_03_01:390723008
has_exact_synonym: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D046589
database_cross_reference: OMIM:PS125310
has_exact_synonym: hereditary multi-infarct dementia
in_subset: NCIthesaurus
imported from: doid.owl

bladder neck obstruction
type: Class
subclass of: bladder disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C79541
database_cross_reference: SNOMEDCT_US_2020_03_01:197859007
database_cross_reference: ICD10CM:N32.0
database_cross_reference: MESH:D001748
database_cross_reference: UMLS_CUI:C0005694
database_cross_reference: ICD9CM:596.0
id: DOID:13948
has_exact_synonym: Obstruction of bladder neck or vesicourethral orifice
in_subset: NCIthesaurus
imported from: doid.owl

interstitial cystitis
type: Class
subclass of: cystitis
database_cross_reference: MESH:D018856
id: DOID:13949
database_cross_reference: GARD:6787
database_cross_reference: NCI:C27189
database_cross_reference: UMLS_CUI:C0282488
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:197834003
has_exact_synonym: ulcerative cystitis
in_subset: NCIthesaurus
imported from: doid.owl

schistosomiasis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: UMLS_CUI:C0029827
database_cross_reference: GARD:9687
database_cross_reference: SNOMEDCT_US_2020_03_01:187116001
database_cross_reference: ICD9CM:120.8
definition: A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria.
id: DOID:1395
has_obo_namespace: disease_ontology
imported from: doid.owl

Morgagni cataract
type: Class
subclass of: senile cataract
id: DOID:13964
database_cross_reference: ICD9CM:366.18
definition: A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging.
database_cross_reference: UMLS_CUI:C0152258
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:247065006
has_exact_synonym: hypermature cataract
imported from: doid.owl

parasitic infectious disease
type: Class
subclass of: disease by infectious agent
has_alternative_id: DOID:2293
has_alternative_id: DOID:4191
definition: A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0014238
database_cross_reference: ICD9CM:360.13
has_alternative_id: DOID:13509
has_alternative_id: DOID:2114
has_alternative_id: DOID:9644
has_alternative_id: DOID:3564
database_cross_reference: SNOMEDCT_US_2020_03_01:57100005
has_alternative_id: DOID:948
id: DOID:1398
database_cross_reference: ICD10CM:H44.12
has_alternative_id: DOID:886
has_alternative_id: DOID:11681
database_cross_reference: NCI:C34587
has_alternative_id: DOID:2922
has_alternative_id: DOID:9639
has_alternative_id: DOID:1396
has_alternative_id: DOID:1494
has_exact_synonym: Ectoparasitic disease
has_exact_synonym: parasitemia
in_subset: DO AGR slim
in_subset: NCIthesaurus
imported from: doid.owl

cleidocranial dysplasia
type: Class
subclass of: autosomal dominant disease
subclass of: osteochondrodysplasia
database_cross_reference: OMIM:119600
database_cross_reference: NCI:C75020
id: DOID:13994
database_cross_reference: UMLS_CUI:C0008928
database_cross_reference: GARD:6118
database_cross_reference: OMIM:216330
definition: An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
database_cross_reference: ICD10CM:Q74.0
has_exact_synonym: Marie-Sainton Disease
database_cross_reference: ORDO:1452
database_cross_reference: SNOMEDCT_US_2020_03_01:65976001
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D002973
has_exact_synonym: cleidocranial dysostosis
has_obo_namespace: disease_ontology
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

small intestine lymphoma
type: Class
subclass of: lymphoma
subclass of: small intestine cancer
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4007
database_cross_reference: SNOMEDCT_US_2020_03_01:449074003
id: DOID:13996
database_cross_reference: UMLS_CUI:C0278805
has_exact_synonym: small intestinal Lymphoma
in_subset: NCIthesaurus
imported from: doid.owl

lacrimal apparatus disease
type: Class
subclass of: eye disease
database_cross_reference: UMLS_CUI:C0022904
database_cross_reference: MESH:D007766
database_cross_reference: ICD9CM:375
definition: An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye.
database_cross_reference: SNOMEDCT_US_2020_03_01:267740009
has_obo_namespace: disease_ontology
id: DOID:1400
database_cross_reference: NCI:C26809
database_cross_reference: ICD10CM:H04
in_subset: NCIthesaurus
imported from: doid.owl

splenic artery aneurysm
type: Class
subclass of: artery disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155747
database_cross_reference: SNOMEDCT_US_2020_03_01:70405009
database_cross_reference: ICD9CM:442.83
id: DOID:14006
imported from: doid.owl

alcoholic liver cirrhosis
type: Class
subclass of: liver cirrhosis
database_cross_reference: ICD10CM:K70.3
database_cross_reference: MESH:D008104
database_cross_reference: UMLS_CUI:C0023891
database_cross_reference: ICD9CM:571.2
has_exact_synonym: Alcoholic Cirrhosis
id: DOID:14018
has_obo_namespace: disease_ontology
has_exact_synonym: Alcoholic cirrhosis of liver
has_exact_synonym: Laennec's cirrhosis
database_cross_reference: SNOMEDCT_US_2020_03_01:420054005
has_exact_synonym: Laennec's cirrhosis, alcoholic
database_cross_reference: NCI:C34782
has_exact_synonym: Portal cirrhosis
in_subset: NCIthesaurus
imported from: doid.owl

folic acid deficiency anemia
type: Class
subclass of: nutritional deficiency disease
id: DOID:14026
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0151482
database_cross_reference: ICD10CM:D52
definition: A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines.
database_cross_reference: ICD9CM:281.2
database_cross_reference: SNOMEDCT_US_2020_03_01:85649008
has_exact_synonym: Folate deficiency anaemia
has_exact_synonym: Folate deficiency anemia
has_exact_synonym: Folate-deficiency anaemia
has_exact_synonym: Folate-deficiency anemia
has_exact_synonym: Folate-deficient megaloblastic anaemia
has_exact_synonym: folic acid deficiency anaemia
imported from: doid.owl

POEMS syndrome
type: Class
subclass of: blood protein disease
database_cross_reference: GARD:7411
database_cross_reference: NCI:C80303
definition: A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation.
database_cross_reference: SNOMEDCT_US_2020_03_01:79268002
id: DOID:14039
database_cross_reference: MESH:D016878
database_cross_reference: UMLS_CUI:C0085404
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

autoimmune polyendocrine syndrome
type: Class
subclass of: autoimmune disease of endocrine system
definition: An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
has_exact_synonym: Lloyd's syndrome
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84576
database_cross_reference: MESH:D016884
database_cross_reference: ICD10CM:E31.0
database_cross_reference: SNOMEDCT_US_2020_03_01:41864002
id: DOID:14040
has_exact_synonym: Autoimmune polyglandular failure
database_cross_reference: UMLS_CUI:C0085409
has_exact_synonym: autoimmune polyendocrinopathy
in_subset: NCIthesaurus
imported from: doid.owl

bipolar I disorder
type: Class
subclass of: bipolar disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:49468007
database_cross_reference: ICD9CM:296.50
database_cross_reference: UMLS_CUI:C0236773
id: DOID:14042
has_obo_namespace: disease_ontology
definition: A bipolar disorder that is characterized by at least one manic or mixed episode.
imported from: doid.owl

phaeohyphomycosis
type: Class
subclass of: primary systemic mycosis
subclass of: paranasal sinus disease
subclass of: skin disease
subclass of: lung disease
subclass of: brain disease
definition: A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Bipolaris hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals.
has_obo_namespace: disease_ontology
id: DOID:14049
database_cross_reference: MESH:D060446
database_cross_reference: GARD:12803
has_exact_synonym: Infection by dematiacious fungi
has_exact_synonym: phaehyphomycosis
imported from: doid.owl

primary angle-closure glaucoma
type: Class
subclass of: angle-closure glaucoma
definition: An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.
id: DOID:1405
database_cross_reference: UMLS_CUI:C0017606
database_cross_reference: ICD10CM:H40.2
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:365.2
database_cross_reference: SNOMEDCT_US_2020_03_01:193544008
has_exact_synonym: primary Angle Closure Glaucoma
imported from: doid.owl

iritis
type: Class
subclass of: iris disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0022081
id: DOID:1406
database_cross_reference: MESH:D007500
database_cross_reference: NCI:C50621
database_cross_reference: SNOMEDCT_US_2020_03_01:65074000
in_subset: NCIthesaurus
imported from: doid.owl

acute poststreptococcal glomerulonephritis
type: Class
subclass of: glomerulonephritis
database_cross_reference: NCI:C35443
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0403414
id: DOID:14064
has_exact_synonym: Post-Streptococcal Glomerulonephritis
database_cross_reference: SNOMEDCT_US_2020_03_01:68544003
in_subset: NCIthesaurus
imported from: doid.owl

acute diffuse nephritis
type: Class
subclass of: diffuse glomerulonephritis
database_cross_reference: SNOMEDCT_US_2020_03_01:197585004
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35587
id: DOID:14066
database_cross_reference: UMLS_CUI:C0341689
has_exact_synonym: acute Diffuse Glomerulonephritis
in_subset: NCIthesaurus
imported from: doid.owl

blackwater fever
type: Class
subclass of: malaria
database_cross_reference: NCI:C34426
database_cross_reference: UMLS_CUI:C0005681
definition: A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax.
has_exact_synonym: Black water fever
has_obo_namespace: disease_ontology
id: DOID:14068
has_exact_synonym: Blackwater fever
database_cross_reference: SNOMEDCT_US_2020_03_01:56625005
has_exact_synonym: Hemoglobinuric, malaria
database_cross_reference: MESH:D001742
database_cross_reference: ICD9CM:084.8
has_exact_synonym: Malarial Hemoglobinuria
in_subset: NCIthesaurus
imported from: doid.owl

anterior uveitis
type: Class
subclass of: panuveitis
database_cross_reference: UMLS_CUI:C0042165
id: DOID:1407
database_cross_reference: SNOMEDCT_US_2020_03_01:193500005
database_cross_reference: NCI:C35109
database_cross_reference: GARD:10941
database_cross_reference: MESH:D014606
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

vestibular nystagmus
type: Class
subclass of: globe disease
database_cross_reference: ICD9CM:379.54
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155379
id: DOID:14070
has_exact_synonym: Nystagmus associated with disorder of the vestibular system
database_cross_reference: SNOMEDCT_US_2020_03_01:46888001
imported from: doid.owl

epicondylitis
type: Class
subclass of: bone inflammation disease
database_cross_reference: UMLS_CUI:C0014488
database_cross_reference: NCI:C35067
database_cross_reference: SNOMEDCT_US_2020_03_01:156659008
definition: A bone inflammation disease that results_in inflammation located_in epicondyle.
database_cross_reference: MESH:D013716
database_cross_reference: NCI:C34589
id: DOID:14087
database_cross_reference: UMLS_CUI:C0039516
database_cross_reference: SNOMEDCT_US_2020_03_01:268088003
database_cross_reference: ICD10CM:M77.1
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14162
database_cross_reference: ICD9CM:726.32
has_exact_synonym: Lateral epicondylitis
has_exact_synonym: andrel epicondylitis
has_exact_synonym: archer's elbow
has_exact_synonym: golfer's elbow
has_exact_synonym: hockey elbow
has_exact_synonym: medial epicondylitis
has_related_synonym: shooter's elbow
has_related_synonym: tennis elbow
in_subset: NCIthesaurus
imported from: doid.owl

root caries
type: Class
subclass of: dental caries
database_cross_reference: MESH:D017213
database_cross_reference: ICD9CM:521.08
database_cross_reference: UMLS_CUI:C0162644
id: DOID:14089
has_obo_namespace: disease_ontology
has_exact_synonym: Cementum caries
has_exact_synonym: Dental caries of root surface
has_exact_synonym: Root caries
database_cross_reference: SNOMEDCT_US_2020_03_01:30512007
imported from: doid.owl

boutonneuse fever
type: Class
subclass of: spotted fever
database_cross_reference: UMLS_CUI:C0006060
has_alternative_id: DOID:0050044
has_obo_namespace: disease_ontology
has_alternative_id: DOID:0050045
has_alternative_id: DOID:0050040
database_cross_reference: SNOMEDCT_US_2020_03_01:186779000
definition: A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
id: DOID:14095
database_cross_reference: MESH:D001907
has_alternative_id: DOID:0050039
has_exact_synonym: African tick typhus
has_related_synonym: Boutonneuse disease
has_related_synonym: Conor and Bruch's disease
database_cross_reference: ICD10CM:A77.1
database_cross_reference: ICD9CM:082.1
has_related_synonym: Kenya fever
has_related_synonym: Kenyan tick typhus
has_related_synonym: Mediterranean spotted fever
has_related_synonym: Mediterranean tick fever
has_exact_synonym: Rickettsia conorii spotted fever
has_exact_synonym: South African tick-bite fever
has_exact_synonym: african tick typhus
has_exact_synonym: kenya tick typhus
has_exact_synonym: marseilles fever
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

anus cancer
type: Class
subclass of: anus disease
subclass of: large intestine cancer
database_cross_reference: GARD:9300
database_cross_reference: SNOMEDCT_US_2020_03_01:93676009
database_cross_reference: ICD9CM:154.2
database_cross_reference: UMLS_CUI:C0153445
database_cross_reference: UMLS_CUI:C0153446
database_cross_reference: NCI:C7379
database_cross_reference: ICD9CM:154.3
database_cross_reference: SNOMEDCT_US_2020_03_01:93669004
has_obo_namespace: disease_ontology
has_alternative_id: DOID:12240
id: DOID:14110
database_cross_reference: ICD10CM:C21.0
database_cross_reference: ICD10CM:C21.1
definition: A large intestine cancer that is located_in the anus.
has_exact_synonym: anal cancer
has_exact_synonym: malignant anal tumor
in_subset: NCIthesaurus
imported from: doid.owl

median rhomboid glossitis
type: Class
subclass of: glossitis
database_cross_reference: ICD9CM:529.2
database_cross_reference: ICD10CM:K14.2
database_cross_reference: SNOMEDCT_US_2020_03_01:7522008
id: DOID:14111
has_exact_synonym: Persistent tuberculum impar
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155963
imported from: doid.owl

toxic shock syndrome
type: Class
subclass of: commensal bacterial infectious disease
definition: A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.
database_cross_reference: SNOMEDCT_US_2020_03_01:18504008
database_cross_reference: UMLS_CUI:C0600327
database_cross_reference: MESH:D012772
database_cross_reference: NCI:C35498
database_cross_reference: ICD9CM:040.82
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A48.3
id: DOID:14115
has_exact_synonym: TSS
has_exact_synonym: Toxic Shock syndrome
has_exact_synonym: Toxic shock syndrome
has_exact_synonym: toxic shock
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

familial lipoprotein lipase deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: familial chylomicronemia syndrome
database_cross_reference: MESH:D008072
database_cross_reference: GARD:12241
database_cross_reference: SNOMEDCT_US_2020_03_01:34171006
database_cross_reference: ICD10CM:E78.3
database_cross_reference: UMLS_CUI:C0023817
database_cross_reference: ICD9CM:272.3
database_cross_reference: NCI:C84771
definition: A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.
database_cross_reference: ORDO:309015
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:14118
has_exact_synonym: Fredrickson type I hyperlipoproteinemia
has_exact_synonym: Fredrickson type I lipaemia
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:238600
has_exact_synonym: familial LPL deficiency
has_exact_synonym: familial chylomicronemia syndrome
has_exact_synonym: familial hyperlipoproteinemia type I
has_exact_synonym: hypercholesterinaemic xanthomatosis
has_exact_synonym: hyperchylomicronemia
has_exact_synonym: mixed hyperglyceridemia
in_subset: NCIthesaurus
imported from: doid.owl

bacteriuria
type: Class
subclass of: urinary system disease
database_cross_reference: MESH:D001437
database_cross_reference: ICD10CM:R82.71
has_obo_namespace: disease_ontology
id: DOID:1412
database_cross_reference: MEDDRA:10004056
database_cross_reference: SNOMEDCT_US_2020_03_01:61373006
definition: A urinary system disease which consists of the presence of bacteria in urine.
database_cross_reference: UMLS_CUI:C0004659
imported from: doid.owl

lateral cystocele
type: Class
subclass of: prolapse of female genital organ
database_cross_reference: ICD10CM:N81.12
database_cross_reference: ICD9CM:618.02
database_cross_reference: UMLS_CUI:C2711750
has_obo_namespace: disease_ontology
id: DOID:14130
definition: A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls.
database_cross_reference: SNOMEDCT_US_2020_03_01:441891001
imported from: doid.owl

Masters-Allen syndrome
type: Class
subclass of: female reproductive system disease
definition: A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery.
database_cross_reference: SNOMEDCT_US_2020_03_01:69186005
database_cross_reference: ICD9CM:620.6
id: DOID:14133
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0152079
has_exact_synonym: Broad ligament laceration syndrome
imported from: doid.owl

ovarian dysfunction
type: Class
subclass of: ovarian disease
database_cross_reference: UMLS_CUI:C0029697
has_obo_namespace: disease_ontology
id: DOID:1414
database_cross_reference: SNOMEDCT_US_2020_03_01:267399006
database_cross_reference: ICD9CM:256.3
definition: An ovarian disease that is characterized by irregular or absent ovulation.
imported from: doid.owl

ureterolithiasis
type: Class
subclass of: ureteral disease
database_cross_reference: MESH:D053039
database_cross_reference: NCI:C114696
id: DOID:14146
database_cross_reference: ICD9CM:592.1
database_cross_reference: ICD10CM:N20.1
database_cross_reference: UMLS_CUI:C0041952
database_cross_reference: SNOMEDCT_US_2020_03_01:31054009
definition: An ureteral disease this is characterized by the formation of stoney concentrations in the ureter.
has_exact_synonym: Ureteric calculus
has_exact_synonym: Ureteric stone
has_exact_synonym: calculus of ureter
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

gyrate atrophy
type: Class
subclass of: choroid disease
database_cross_reference: NCI:C84744
database_cross_reference: GARD:6556
database_cross_reference: OMIM:258870
comment: OMIM mapping by NeuroDevNet. [LS].
id: DOID:1415
has_exact_synonym: Gyrate atrophy of the choroid and/or retina
has_exact_synonym: Ornithinemia with gyrate atrophy
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0018425
database_cross_reference: MESH:D015799
database_cross_reference: SNOMEDCT_US_2020_03_01:314467007
has_exact_synonym: gyrate atrophy of the retina
in_subset: NCIthesaurus
imported from: doid.owl

choroid disease
type: Class
subclass of: uveal disease
has_obo_namespace: disease_ontology
id: DOID:1417
database_cross_reference: NCI:C34468
database_cross_reference: MESH:D015862
database_cross_reference: UMLS_CUI:C0008521
database_cross_reference: ICD10CM:H31.9
database_cross_reference: ICD9CM:363.9
database_cross_reference: SNOMEDCT_US_2020_03_01:193480005
in_subset: NCIthesaurus
imported from: doid.owl

central neurocytoma
type: Class
subclass of: cerebral ventricle cancer
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0206719
id: DOID:14174
database_cross_reference: MESH:D018306
has_exact_synonym: Neurolipocytoma
database_cross_reference: SNOMEDCT_US_2020_03_01:302832007
database_cross_reference: NCI:C3791
in_subset: NCIthesaurus
imported from: doid.owl

von Hippel-Lindau disease
type: Class
subclass of: hemangioblastoma
database_cross_reference: SNOMEDCT_US_2020_03_01:46659004
database_cross_reference: ICD10CM:Q85.8
database_cross_reference: OMIM:193300
database_cross_reference: UMLS_CUI:C0019562
database_cross_reference: GARD:7855
has_exact_synonym: Hippel Lindau syndrome
database_cross_reference: MESH:D006623
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [LS].
id: DOID:14175
database_cross_reference: NCI:C3105
has_exact_synonym: Von Hippel-Lindau syndrome
has_exact_synonym: von Hippel-Lindau syndrome
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

congenital hypogammaglobulinemia
type: Class
subclass of: physical disorder
subclass of: B cell deficiency
has_exact_synonym: Congenital hypogammaglobulinemia
id: DOID:14177
database_cross_reference: ICD9CM:279.04
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:190983003
has_exact_synonym: Congenital hypogammaglobulinaemia
database_cross_reference: UMLS_CUI:C1457897
imported from: doid.owl

X-linked agammaglobulinemia
type: Class
subclass of: X-linked recessive disease
subclass of: agammaglobulinemia
has_exact_synonym: Bruton agammaglobulinemia tyrosine kinase deficiency
has_exact_synonym: Bruton's Sex-Linked Agammaglobulinemia
database_cross_reference: NCI:C3822
id: DOID:14179
database_cross_reference: MESH:C537409
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0221026
definition: An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
has_exact_synonym: BTK deficiency
has_exact_synonym: Bruton's agammaglobulinaemia
database_cross_reference: ORDO:47
has_exact_synonym: Bruton's type agammaglobulinemia
has_exact_synonym: Bruton-type agammaglobulinemia
database_cross_reference: SNOMEDCT_US_2020_03_01:65880007
database_cross_reference: OMIM:300755
has_obo_namespace: disease_ontology
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

calcific tendinitis
type: Class
subclass of: tendinitis
database_cross_reference: SNOMEDCT_US_2020_03_01:239957000
database_cross_reference: UMLS_CUI:C0158303
id: DOID:14181
database_cross_reference: ICD9CM:726.11
database_cross_reference: ICD10CM:M75.3
has_obo_namespace: disease_ontology
imported from: doid.owl

alcoholic neuropathy
type: Class
subclass of: inflammatory and toxic neuropathy
database_cross_reference: ICD10CM:G62.1
database_cross_reference: SNOMEDCT_US_2020_03_01:7916009
database_cross_reference: MESH:D020269
id: DOID:14183
has_exact_synonym: Alcoholic polyneuropathy
database_cross_reference: ICD9CM:357.5
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26926
database_cross_reference: UMLS_CUI:C0085677
has_exact_synonym: Alcohol-related polyneuropathy
in_subset: NCIthesaurus
imported from: doid.owl

frozen shoulder
type: Class
subclass of: connective tissue disease
database_cross_reference: UMLS_CUI:C0311223
database_cross_reference: ICD9CM:726.0
database_cross_reference: ICD10CM:M75.0
id: DOID:14188
has_obo_namespace: disease_ontology
has_exact_synonym: Adhesive capsulitis of shoulder
database_cross_reference: SNOMEDCT_US_2020_03_01:156664007
database_cross_reference: MESH:D002062
definition: A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion.
has_exact_synonym: adhesions-capsulitis,shoulder
imported from: doid.owl

adult dermatomyositis
type: Class
subclass of: dermatomyositis
has_obo_namespace: disease_ontology
id: DOID:14202
has_exact_synonym: adult onset dermatomyositis
imported from: doid.owl

hypophosphatasia
type: Class
subclass of: autosomal genetic disease
subclass of: syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:30174008
database_cross_reference: NCI:C26798
database_cross_reference: GARD:6734
id: DOID:14213
definition: A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in ALPL on chromosome 1p36.12.
database_cross_reference: ORDO:436
database_cross_reference: ICD10CM:E83.39
database_cross_reference: MESH:D007014
database_cross_reference: SNOMEDCT_US_2020_03_01:70848009
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14763
database_cross_reference: MESH:C562440
database_cross_reference: UMLS_CUI:C0020630
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0220743
has_exact_synonym: childhood hypophosphatasia
has_exact_synonym: deficiency of alkaline phosphatase
has_exact_synonym: hypophospatasia, childhood
in_subset: NCIthesaurus
imported from: doid.owl

dihydropyrimidine dehydrogenase deficiency
type: Class
subclass of: purine-pyrimidine metabolic disorder
database_cross_reference: MESH:D054067
database_cross_reference: UMLS_CUI:C3495551
has_obo_namespace: disease_ontology
definition: A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
id: DOID:14218
database_cross_reference: OMIM:274270
database_cross_reference: SNOMEDCT_US_2020_03_01:238016000
database_cross_reference: NCI:C84672
database_cross_reference: GARD:19
database_cross_reference: UMLS_CUI:C1959620
has_exact_synonym: Dihydropyrimidine dehydrogenase deficiency
has_exact_synonym: Dihydrouracil Dehydrogenase deficiency
has_exact_synonym: familial pyrimidinaemia
has_exact_synonym: thymine-uracilurea
in_subset: NCIthesaurus
imported from: doid.owl

renal tubular acidosis
type: Class
subclass of: renal tubular transport disease
database_cross_reference: OMIM:267200
id: DOID:14219
database_cross_reference: NCI:C28129
database_cross_reference: ICD10CM:N25.89
database_cross_reference: SNOMEDCT_US_2020_03_01:1776003
database_cross_reference: UMLS_CUI:C0001126
database_cross_reference: MESH:D000141
database_cross_reference: OMIM:602722
database_cross_reference: GARD:7552
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:179830
comment: Xref MGI.
definition: A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine.
in_subset: NCIthesaurus
imported from: doid.owl

abdominal obesity-metabolic syndrome 1
type: Class
subclass of: abdominal obesity-metabolic syndrome
database_cross_reference: ICD9CM:277.7
database_cross_reference: SNOMEDCT_US_2020_03_01:190394009
database_cross_reference: UMLS_CUI:C0524620
database_cross_reference: OMIM:605552
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:E88.81
database_cross_reference: GARD:9226
database_cross_reference: EFO:0000195
definition: An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.
id: DOID:14221
database_cross_reference: NCI:C84442
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D024821
has_exact_synonym: abdominal obesity-metabolic syndrome 1
has_exact_synonym: dysmetabolic syndrome X
has_exact_synonym: metabolic syndrome X
in_subset: NCIthesaurus
imported from: doid.owl

ochronosis
type: Class
subclass of: connective tissue disease
database_cross_reference: SNOMEDCT_US_2020_03_01:21924005
database_cross_reference: UMLS_CUI:C0028817
database_cross_reference: ICD10CM:E70.29
database_cross_reference: GARD:7231
has_obo_namespace: disease_ontology
id: DOID:14223
database_cross_reference: NCI:C84938
database_cross_reference: MESH:D009794
definition: A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.
in_subset: NCIthesaurus
imported from: doid.owl

acute frontal sinusitis
type: Class
subclass of: frontal sinusitis
has_obo_namespace: disease_ontology
id: DOID:14225
database_cross_reference: ICD9CM:461.1
database_cross_reference: SNOMEDCT_US_2020_03_01:155500003
database_cross_reference: UMLS_CUI:C0155805
definition: A frontal sinusitis which lasts for less than 4 weeks.
database_cross_reference: ICD10CM:J01.1
imported from: doid.owl

azoospermia
type: Class
subclass of: male infertility
database_cross_reference: NCI:C80076
definition: A male infertility disease characterized by the absence of any measurable level of sperm in semen.
comment: Xref MGI.
database_cross_reference: MESH:D053713
database_cross_reference: UMLS_CUI:C0004509
database_cross_reference: ICD9CM:606.0
database_cross_reference: EFO:0000279
database_cross_reference: ORDO:217034
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:N46.0
database_cross_reference: SNOMEDCT_US_2020_03_01:425558002
id: DOID:14227
has_exact_synonym: spermatogenic failure
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

oligospermia
type: Class
subclass of: male infertility
definition: A male fertility issue defined as a low sperm concentration in the ejaculate.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34860
id: DOID:14228
database_cross_reference: ICD10CM:N46.1
database_cross_reference: ICD9CM:606.1
database_cross_reference: MESH:D009845
database_cross_reference: UMLS_CUI:C0028960
in_subset: NCIthesaurus
imported from: doid.owl

scleromalacia perforans
type: Class
subclass of: scleral disease
database_cross_reference: SNOMEDCT_US_2020_03_01:26664005
database_cross_reference: ICD10CM:H15.05
database_cross_reference: ICD9CM:379.04
definition: A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis.
database_cross_reference: UMLS_CUI:C0155354
has_obo_namespace: disease_ontology
id: DOID:14230
imported from: doid.owl

chronic purulent otitis media
type: Class
subclass of: suppurative otitis media
database_cross_reference: UMLS_CUI:C0271454
has_obo_namespace: disease_ontology
id: DOID:14247
database_cross_reference: SNOMEDCT_US_2020_03_01:38394007
definition: A suppurative otitis media which is persistent and long-lasting.
database_cross_reference: NCI:C128386
database_cross_reference: ICD9CM:382.3
database_cross_reference: ICD10CM:H66.3
has_exact_synonym: chronic suppurative otitis media
in_subset: NCIthesaurus
imported from: doid.owl

Down syndrome
type: Class
subclass of: chromosomal duplication syndrome
has_exact_synonym: Down's syndrome
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:870
database_cross_reference: SNOMEDCT_US_2020_03_01:41040004
database_cross_reference: MESH:D004314
database_cross_reference: NCI:C2993
id: DOID:14250
database_cross_reference: OMIM:190685
has_exact_synonym: Complete trisomy 21 syndrome
has_exact_synonym: Down's syndrome - trisomy 21
has_exact_synonym: Downs syndrome
has_exact_synonym: G Trisomy
database_cross_reference: GARD:10247
database_cross_reference: UMLS_CUI:C0013080
definition: A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q90
database_cross_reference: ICD9CM:758.0
has_exact_synonym: trisomy 21 syndrome
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

vitreoretinal dystrophy
type: Class
subclass of: fundus dystrophy
database_cross_reference: UMLS_CUI:C0154863
id: DOID:14251
database_cross_reference: ICD10CM:H35.51
database_cross_reference: ICD9CM:362.73
database_cross_reference: SNOMEDCT_US_2020_03_01:79556007
has_obo_namespace: disease_ontology
has_exact_synonym: Vitreoretinal dystrophies
imported from: doid.owl

adult-onset Still's disease
type: Class
subclass of: rheumatoid arthritis
database_cross_reference: ICD10CM:M06.1
definition: A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain.
has_obo_namespace: disease_ontology
id: DOID:14256
database_cross_reference: SNOMEDCT_US_2020_03_01:239920006
database_cross_reference: UMLS_CUI:C0085253
database_cross_reference: GARD:436
database_cross_reference: MESH:D016706
has_exact_synonym: adult onset Still's disease
has_exact_synonym: adult-onset Still disease
imported from: doid.owl

ureteral disease
type: Class
subclass of: urinary system disease
has_obo_namespace: disease_ontology
id: DOID:1426
definition: A urinary system disease that is located_in the ureter.
database_cross_reference: UMLS_CUI:C0041954
database_cross_reference: MESH:D014515
in_subset: NCIthesaurus
imported from: doid.owl

fragile X syndrome
type: Class
subclass of: X-linked dominant disease
subclass of: syndrome
has_obo_namespace: disease_ontology
definition: A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
has_exact_synonym: FRAGILE X MENTAL RETARDATION SYNDROME
database_cross_reference: OMIM:300624
database_cross_reference: SNOMEDCT_US_2020_03_01:390007001
database_cross_reference: MESH:D005600
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:14261
database_cross_reference: ORDO:908
database_cross_reference: UMLS_CUI:C0016667
database_cross_reference: ICD9CM:759.83
database_cross_reference: ICD10CM:Q99.2
has_exact_synonym: MARKER X SYNDROME
has_exact_synonym: MARTIN-BELL SYNDROME
database_cross_reference: NCI:C84717
database_cross_reference: GARD:6464
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

benign neonatal seizures
type: Class
subclass of: neonatal period electroclinical syndrome
definition: A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion.
database_cross_reference: SNOMEDCT_US_2020_03_01:38281008
database_cross_reference: OMIM:269720
id: DOID:14264
database_cross_reference: ORDO:1949
database_cross_reference: UMLS_CUI:C0270851
database_cross_reference: MESH:D020936
database_cross_reference: OMIM:121200
database_cross_reference: OMIM:121201
has_exact_synonym: benign neonatal convulsions
has_obo_namespace: disease_ontology
comment: Xref MGI.
database_cross_reference: NCI:C84593
has_exact_synonym: benign familial neonatal seizures
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary valve insufficiency
type: Class
subclass of: pulmonary valve disease
has_alternative_id: DOID:11210
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:91434003
database_cross_reference: NCI:C51447
database_cross_reference: MESH:D011665
comment: Replacing outdated UMLS CUI.
database_cross_reference: UMLS_CUI:C0034088
definition: A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur.
id: DOID:14265
has_exact_synonym: Pulmonic insufficiency
has_exact_synonym: Pulmonic valve regurgitation
has_exact_synonym: pulmonary incompetence
has_exact_synonym: pulmonary incompetence, non-rheumatic
has_exact_synonym: pulmonary insufficiency following trauma and surgery
has_exact_synonym: pulmonary regurg.
has_exact_synonym: pulmonary regurgitation
in_subset: NCIthesaurus
imported from: doid.owl

sclerosing cholangitis
type: Class
subclass of: cholangitis
database_cross_reference: UMLS_CUI:C0008313
database_cross_reference: EFO:0004268
id: DOID:14268
database_cross_reference: SNOMEDCT_US_2020_03_01:4032000
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015209
database_cross_reference: ICD10CM:K83.09
has_exact_synonym: fibrosing cholangitis
imported from: doid.owl

ascending cholangitis
type: Class
subclass of: cholangitis
id: DOID:14270
database_cross_reference: UMLS_CUI:C0311273
database_cross_reference: ICD10CM:K83.09
has_exact_synonym: Ascending Cholangitis
has_exact_synonym: Ascending cholangitis
database_cross_reference: SNOMEDCT_US_2020_03_01:26918003
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35372
in_subset: NCIthesaurus
imported from: doid.owl

endocrine pancreas disease
type: Class
subclass of: pancreas disease
database_cross_reference: ICD10CM:E16
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:251
id: DOID:1428
database_cross_reference: UMLS_CUI:C0154189
database_cross_reference: SNOMEDCT_US_2020_03_01:190427005
imported from: doid.owl

primary hypertrophic osteoarthropathy
type: Class
subclass of: syndrome
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029411
database_cross_reference: OMIM:259100
database_cross_reference: MESH:D010004
database_cross_reference: SNOMEDCT_US_2020_03_01:88220006
database_cross_reference: ICD10CM:M89.4
database_cross_reference: NCI:C85023
id: DOID:14283
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Pachydermoperiostosis of nail
has_exact_synonym: Pachydermoperiostosis syndrome
in_subset: NCIthesaurus
imported from: doid.owl

patellofemoral pain syndrome
type: Class
subclass of: arthropathy
id: DOID:14284
database_cross_reference: UMLS_CUI:C0877149
database_cross_reference: MESH:D046788
has_obo_namespace: disease_ontology
imported from: doid.owl

Ebstein anomaly
type: Class
subclass of: tricuspid valve disease
database_cross_reference: ICD9CM:746.2
database_cross_reference: NCI:C84681
database_cross_reference: UMLS_CUI:C0013481
database_cross_reference: GARD:6313
database_cross_reference: SNOMEDCT_US_2020_03_01:1796006
has_obo_namespace: disease_ontology
id: DOID:14289
database_cross_reference: MESH:D004437
definition: A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.
has_exact_synonym: Ebstein's anomaly
has_exact_synonym: Ebstein's anomaly of common atrioventricular valve
has_exact_synonym: Ebstein's anomaly of right atrioventricular valve
has_exact_synonym: Ebstein's anomaly of tricuspid valve
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q22.5
database_cross_reference: OMIM:224700
in_subset: NCIthesaurus
imported from: doid.owl

Noonan syndrome with multiple lentigines
type: Class
subclass of: autosomal dominant disease
subclass of: RASopathy
database_cross_reference: GARD:1100
id: DOID:14291
has_exact_synonym: Generalized lentiginosis
database_cross_reference: OMIM:PS151100
database_cross_reference: NCI:C84820
database_cross_reference: ORDO:500
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:111306001
database_cross_reference: MESH:D044542
database_cross_reference: UMLS_CUI:C0175704
has_obo_namespace: disease_ontology
has_exact_synonym: LEOPARD syndrome
definition: A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
has_exact_synonym: Gorlin syndrome II
has_exact_synonym: Lentiginosis profusa syndrome
has_exact_synonym: Moynahan syndrome
has_exact_synonym: Multiple lentigines syndrome
has_exact_synonym: Progressive cardiomyopathic lentiginosis
in_subset: NCIthesaurus
imported from: doid.owl

tuberculous empyema
type: Class
subclass of: pleural empyema
has_obo_namespace: disease_ontology
id: DOID:14305
database_cross_reference: MESH:D004654
database_cross_reference: SNOMEDCT_US_2020_03_01:186184002
definition: A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula.
has_exact_synonym: Tuberculous empyema
database_cross_reference: UMLS_CUI:C0014014
database_cross_reference: NCI:C34575
in_subset: NCIthesaurus
imported from: doid.owl

blindness
type: Class
subclass of: eye disease
database_cross_reference: UMLS_CUI:C0155020
database_cross_reference: ICD9CM:369
id: DOID:1432
definition: An eye disease characterized by a lack or loss of vision.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:193698004
database_cross_reference: ICD10CM:H54
has_exact_synonym: vision impairment
has_exact_synonym: vision loss
has_exact_synonym: visual impairment
in_subset: DO FlyBase slim
imported from: doid.owl

generalized anxiety disorder
type: Class
subclass of: anxiety disorder
definition: An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.
database_cross_reference: ICD9CM:300.02
id: DOID:14320
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:192401002
database_cross_reference: ICD10CM:F41.1
database_cross_reference: NCI:C92622
database_cross_reference: UMLS_CUI:C0270549
in_subset: NCIthesaurus
imported from: doid.owl

Marfan syndrome
type: Class
subclass of: aortic disease
subclass of: eye disease
subclass of: connective tissue disease
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:154700
database_cross_reference: ICD9CM:759.82
database_cross_reference: UMLS_CUI:C0024796
database_cross_reference: GARD:6975
database_cross_reference: NCI:C34807
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D008382
database_cross_reference: ICD10CM:Q87.4
id: DOID:14323
definition: A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
has_exact_synonym: Marfan's syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:19346006
in_subset: NCIthesaurus
imported from: doid.owl

mixed malaria
type: Class
subclass of: malaria
definition: A malaria that involves infection with more than one species of Plasmodium at the same time.
id: DOID:14325
database_cross_reference: ICD9CM:084.5
has_exact_synonym: Malaria fever by more than one parasite
database_cross_reference: SNOMEDCT_US_2020_03_01:21070001
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0153121
has_exact_synonym: malaria by more than one parasite
imported from: doid.owl

Parkinson's disease
type: Class
subclass of: synucleinopathy
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:332
database_cross_reference: ICD10CM:G20
id: DOID:14330
database_cross_reference: NCI:C26845
database_cross_reference: KEGG:05012
database_cross_reference: UMLS_CUI:C0030567
database_cross_reference: MESH:D010300
definition: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
database_cross_reference: OMIM:PS168600
database_cross_reference: EFO:0002508
has_exact_synonym: Parkinson disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:49049000
database_cross_reference: GARD:10251
database_cross_reference: ORDO:2828
has_exact_synonym: paralysis agitans
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

suppurative thyroiditis
type: Class
subclass of: thyroiditis
database_cross_reference: NCI:C129724
database_cross_reference: MESH:D013969
database_cross_reference: ICD10CM:E06.0
database_cross_reference: SNOMEDCT_US_2020_03_01:3511005
has_exact_synonym: Suppurative thyroiditis
database_cross_reference: UMLS_CUI:C0040150
has_obo_namespace: disease_ontology
id: DOID:14350
has_exact_synonym: Infectious thyroiditis
has_exact_synonym: acute suppurative thyroiditis
in_subset: NCIthesaurus
imported from: doid.owl

corneal ectasia
type: Class
subclass of: corneal disease
has_obo_namespace: disease_ontology
id: DOID:1436
database_cross_reference: SNOMEDCT_US_2020_03_01:14748007
database_cross_reference: UMLS_CUI:C0155135
database_cross_reference: ICD9CM:371.71
database_cross_reference: ICD10CM:H18.71
imported from: doid.owl

systemic primary carnitine deficiency disease
type: Class
subclass of: amino acid metabolic disorder
database_cross_reference: ICD9CM:277.81
definition: An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:21764004
has_alternative_id: DOID:1668
database_cross_reference: MESH:C536778
database_cross_reference: NCI:C98864
id: DOID:14365
database_cross_reference: OMIM:212140
database_cross_reference: ICD10CM:E71.41
database_cross_reference: UMLS_CUI:C0342788
has_obo_namespace: disease_ontology
has_exact_synonym: carnitine transporter deficiency
has_exact_synonym: carnitine uptake defect
has_exact_synonym: deficiency of plasma-membrane carnitine transporter
has_exact_synonym: primary carnitine deficiency
has_exact_synonym: renal carnitine transport defect
in_subset: NCIthesaurus
imported from: doid.owl

norwegian scabies
type: Class
subclass of: scabies
database_cross_reference: NCI:C34855
id: DOID:14374
database_cross_reference: SNOMEDCT_US_2020_03_01:128870005
definition: A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.
has_obo_namespace: disease_ontology
has_exact_synonym: Crusted scabies
database_cross_reference: UMLS_CUI:C0028425
in_subset: NCIthesaurus
imported from: doid.owl

pyuria
type: Class
subclass of: urinary system disease
database_cross_reference: UMLS_CUI:C0034359
has_obo_namespace: disease_ontology
id: DOID:1439
database_cross_reference: NCI:C119028
database_cross_reference: SNOMEDCT_US_2020_03_01:4800001
database_cross_reference: MESH:D011776
database_cross_reference: ICD10CM:R82.81
has_exact_synonym: Pus cells in urine
in_subset: NCIthesaurus
imported from: doid.owl

Machado-Joseph disease
type: Class
subclass of: autosomal dominant cerebellar ataxia
id: DOID:1440
has_exact_synonym: Azorean disease
has_exact_synonym: MJD
database_cross_reference: UMLS_CUI:C0024408
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84830
definition: An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
database_cross_reference: MESH:D017827
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:109150
has_exact_synonym: SCA3
database_cross_reference: SNOMEDCT_US_2020_03_01:91952008
has_exact_synonym: spinocerebellar ataxia 3
has_exact_synonym: spinocerebellar ataxia type 3
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

capillary leak syndrome
type: Class
subclass of: capillary disease
database_cross_reference: NCI:C62578
has_exact_synonym: Capillary leak syndrome
database_cross_reference: MESH:D019559
has_obo_namespace: disease_ontology
id: DOID:14400
database_cross_reference: SNOMEDCT_US_2020_03_01:87730004
database_cross_reference: UMLS_CUI:C0343084
in_subset: NCIthesaurus
imported from: doid.owl

autosomal dominant cerebellar ataxia
type: Class
subclass of: autosomal dominant disease
subclass of: cerebellar ataxia
has_alternative_id: DOID:2478
database_cross_reference: UMLS_CUI:C0087012
database_cross_reference: MESH:D020754
definition: A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
database_cross_reference: SNOMEDCT_US_2020_03_01:129609000
database_cross_reference: NCI:C82341
database_cross_reference: OMIM:PS164400
id: DOID:1441
database_cross_reference: ORDO:94
has_obo_namespace: disease_ontology
has_exact_synonym: spinocerebellar ataxia
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Legg-Calve-Perthes disease
type: Class
subclass of: osteochondrosis
database_cross_reference: GARD:6874
database_cross_reference: NCI:C34766
has_alternative_id: DOID:14561
has_exact_synonym: Calve - Perthes' disease
database_cross_reference: MESH:D007873
database_cross_reference: UMLS_CUI:C0022441
database_cross_reference: UMLS_CUI:C0023234
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:15739006
definition: An osteochondrosis that results_in death and fracture located_in hip joint.
id: DOID:14415
has_exact_synonym: Coxa plana
database_cross_reference: OMIM:150600
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:270545000
database_cross_reference: ICD10CM:M91.2
has_exact_synonym: Juvenile osteochond-hip/pelvis
has_exact_synonym: Juvenile osteochondrosis of hip and/or pelvis
has_related_synonym: Legg-Calve-Perthes symptom
has_exact_synonym: Perthe's disease
has_exact_synonym: Perthes disease
has_exact_synonym: Pseudocoxalgia
has_exact_synonym: juvenile osteochondrosis of hip and pelvis
has_exact_synonym: osteochondrosis of Legg-Calve-Perthes
has_exact_synonym: pseudocoxalgia
in_subset: NCIthesaurus
imported from: doid.owl

dracunculiasis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:48874008
has_exact_synonym: Dracontiasis
database_cross_reference: UMLS_CUI:C0013100
database_cross_reference: ICD9CM:125.7
database_cross_reference: GARD:6286
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004320
database_cross_reference: ICD10CM:B72
database_cross_reference: NCI:C84677
id: DOID:14418
definition: A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection.
has_exact_synonym: Infection by Dracunculus medinensis
in_subset: NCIthesaurus
imported from: doid.owl

glossopharyngeal neuralgia
type: Class
subclass of: glossopharyngeal nerve disease
database_cross_reference: SNOMEDCT_US_2020_03_01:43763009
database_cross_reference: GARD:6519
database_cross_reference: ICD10CM:G52.1
database_cross_reference: ICD9CM:352.1
has_exact_synonym: Glossopharyngeal neuralgia
database_cross_reference: UMLS_CUI:C0154731
has_obo_namespace: disease_ontology
id: DOID:14423
database_cross_reference: MESH:D020435
imported from: doid.owl

cerebral degeneration
type: Class
subclass of: brain disease
database_cross_reference: UMLS_CUI:C0154671
has_exact_synonym: Brain degeneration
database_cross_reference: SNOMEDCT_US_2020_03_01:52522001
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:331.9
id: DOID:1443
definition: A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue.
database_cross_reference: GARD:6019
imported from: doid.owl

cholinergic urticaria
type: Class
subclass of: physical urticaria
database_cross_reference: UMLS_CUI:C0152230
database_cross_reference: ICD9CM:708.5
definition: A physical urticaria induced by sweating.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L50.5
id: DOID:14443
database_cross_reference: SNOMEDCT_US_2020_03_01:73098005
imported from: doid.owl

sclerosing keratitis
type: Class
subclass of: deep keratitis
database_cross_reference: ICD10CM:H16.33
database_cross_reference: ICD9CM:370.54
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155090
database_cross_reference: SNOMEDCT_US_2020_03_01:27886001
id: DOID:14444
definition: A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.
has_exact_synonym: Sclerokeratitis
imported from: doid.owl

gonadal dysgenesis
type: Class
subclass of: disorder of sexual development
id: DOID:14447
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0018051
database_cross_reference: NCI:C61420
database_cross_reference: ICD9CM:758.6
database_cross_reference: GARD:2538
definition: A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
has_exact_synonym: Gonadal dysgenesis syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:268356004
database_cross_reference: MESH:D006059
in_subset: NCIthesaurus
imported from: doid.owl

mixed gonadal dysgenesis
type: Class
subclass of: gonadal dysgenesis
database_cross_reference: NCI:C120199
definition: A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis.
database_cross_reference: UMLS_CUI:C0018055
database_cross_reference: MESH:D006060
database_cross_reference: SNOMEDCT_US_2020_03_01:205682006
id: DOID:14449
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

hyperkalemic periodic paralysis
type: Class
subclass of: familial periodic paralysis
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:G72.3
database_cross_reference: NCI:C123429
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:304737009
database_cross_reference: UMLS_CUI:C0238357
database_cross_reference: MESH:D020513
database_cross_reference: OMIM:170500
database_cross_reference: ORDO:682
id: DOID:14451
database_cross_reference: GARD:195
has_exact_synonym: familial hyperkalemic periodic paralysis
in_subset: NCIthesaurus
imported from: doid.owl

hypokalemic periodic paralysis
type: Class
subclass of: familial periodic paralysis
database_cross_reference: OMIM:170400
database_cross_reference: GARD:6729
database_cross_reference: MESH:D020514
database_cross_reference: UMLS_CUI:C0238358
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:240093008
database_cross_reference: ORDO:681
database_cross_reference: GARD:5557
database_cross_reference: ICD10CM:G72.3
id: DOID:14452
has_exact_synonym: Hypokalemic familial periodic paralysis
has_exact_synonym: Hypokalemic periodic paralysis
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:613345
database_cross_reference: NCI:C84775
has_exact_synonym: Periodic paralysis I
has_exact_synonym: Westphal disease
has_exact_synonym: familial hypokalemic periodic paralysis
has_exact_synonym: familial periodic paralysis
has_exact_synonym: periodic hypokalemic paralysis
in_subset: NCIthesaurus
imported from: doid.owl

farmer's lung
type: Class
subclass of: extrinsic allergic alveolitis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0015634
id: DOID:14453
database_cross_reference: ICD10CM:J67.0
database_cross_reference: SNOMEDCT_US_2020_03_01:155581001
database_cross_reference: ICD9CM:495.0
database_cross_reference: NCI:C34605
definition: An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness.
has_exact_synonym: Farmers lung
database_cross_reference: GARD:6427
database_cross_reference: MESH:D005203
has_exact_synonym: farmer lung
in_subset: NCIthesaurus
imported from: doid.owl

neuroleptic malignant syndrome
type: Class
subclass of: nervous system disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:15244003
id: DOID:14464
database_cross_reference: NCI:C94829
database_cross_reference: ICD9CM:333.92
database_cross_reference: ICD10CM:G21.0
database_cross_reference: UMLS_CUI:C0027849
database_cross_reference: GARD:7195
database_cross_reference: MESH:D009459
definition: A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers.
database_cross_reference: ORDO:94093
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hantavirus pulmonary syndrome
type: Class
subclass of: lung disease
subclass of: viral infectious disease
database_cross_reference: MESH:D018804
database_cross_reference: UMLS_CUI:C0243025
definition: A viral infectious disease that results in infection located in lung, has_material_basis_in Sin Nombre virus, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _ymptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications.
id: DOID:14472
database_cross_reference: NCI:C84747
has_obo_namespace: disease_ontology
database_cross_reference: GARD:69
database_cross_reference: SNOMEDCT_US_2020_03_01:120639003
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

pemphigoid gestationis
type: Class
subclass of: autoimmune disease of skin and connective tissue
subclass of: vesiculobullous skin disease
database_cross_reference: SNOMEDCT_US_2020_03_01:86081009
has_obo_namespace: disease_ontology
id: DOID:14482
definition: A vesiculobullous skin disease that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis.
has_exact_synonym: Gestational herpes
database_cross_reference: UMLS_CUI:C0019343
database_cross_reference: NCI:C85003
database_cross_reference: ICD10CM:O26.4
database_cross_reference: MESH:D006559
has_exact_synonym: herpes gestationis
in_subset: NCIthesaurus
imported from: doid.owl

sporotrichosis
type: Class
subclass of: primary systemic mycosis
database_cross_reference: SNOMEDCT_US_2020_03_01:266218008
database_cross_reference: GARD:7692
database_cross_reference: ICD10CM:B42
database_cross_reference: ICD9CM:117.1
has_obo_namespace: disease_ontology
definition: A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation.
database_cross_reference: UMLS_CUI:C0038034
id: DOID:14484
database_cross_reference: MESH:D013174
imported from: doid.owl

dumping syndrome
type: Class
subclass of: postgastrectomy syndrome
has_exact_synonym: Dumping (jejunal) syndrome
database_cross_reference: ICD10CM:K91.1
has_exact_synonym: Jejunal syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:155785007
database_cross_reference: MESH:D004377
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2994
id: DOID:14495
database_cross_reference: UMLS_CUI:C0013288
in_subset: NCIthesaurus
imported from: doid.owl

Wolman disease
type: Class
subclass of: lysosomal and lipase deficiency
id: DOID:14497
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E75.5
database_cross_reference: GARD:7899
has_exact_synonym: Acid esterase deficiency
database_cross_reference: MESH:D015223
database_cross_reference: UMLS_CUI:C0043208
database_cross_reference: NCI:C61271
database_cross_reference: SNOMEDCT_US_2020_03_01:82500001
has_exact_synonym: Acid lipase deficiency
has_exact_synonym: Wolman xanthomatosis
has_exact_synonym: Wolman's disease
has_exact_synonym: Wolman's or triglyceride storage type III disease
has_exact_synonym: Xanthomatosis, familial
in_subset: NCIthesaurus
imported from: doid.owl

lipoid proteinosis
type: Class
subclass of: lipid metabolism disorder
database_cross_reference: NCI:C84829
id: DOID:14498
database_cross_reference: SNOMEDCT_US_2020_03_01:38692000
database_cross_reference: OMIM:247100
database_cross_reference: MESH:D008065
database_cross_reference: GARD:3268
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Lipid proteinosis
database_cross_reference: UMLS_CUI:C0023795
has_exact_synonym: URBACH-WIETHE DISEASE
has_obo_namespace: disease_ontology
has_exact_synonym: Lipoid proteinosis
in_subset: NCIthesaurus
imported from: doid.owl

Fabry disease
type: Class
subclass of: sphingolipidosis
database_cross_reference: ICD10CM:E75.21
has_exact_synonym: Alpha-galactosidase A deficiency
database_cross_reference: UMLS_CUI:C0002986
database_cross_reference: SNOMEDCT_US_2020_03_01:16652001
comment: OMIM mapping confirmed by DO. [SN].
definition: A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
has_exact_synonym: Angiokeratoma Corporis Diffusum
has_exact_synonym: Fabry's disease
database_cross_reference: OMIM:301500
database_cross_reference: MESH:D000795
id: DOID:14499
database_cross_reference: NCI:C84701
database_cross_reference: GARD:6400
has_exact_synonym: alpha galactosidase deficiency
has_exact_synonym: deficiency of melibiase
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

fucosidosis
type: Class
subclass of: lysosomal storage disease
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6473
database_cross_reference: UMLS_CUI:C0016788
database_cross_reference: OMIM:230000
database_cross_reference: ICD10CM:E77.1
id: DOID:14500
database_cross_reference: SNOMEDCT_US_2020_03_01:64716005
database_cross_reference: NCI:C61274
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: A-fucosidase deficiency
database_cross_reference: MESH:D005645
has_exact_synonym: alpha fucosidase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

cholesterol ester storage disease
type: Class
subclass of: lysosomal and lipase deficiency
id: DOID:14502
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015217
database_cross_reference: SNOMEDCT_US_2020_03_01:57218003
database_cross_reference: UMLS_CUI:C0008384
imported from: doid.owl

neuronal ceroid lipofuscinosis
type: Class
subclass of: lipid storage disease
database_cross_reference: SNOMEDCT_US_2020_03_01:42012007
database_cross_reference: ICD10CM:E75.4
database_cross_reference: ORDO:79262
database_cross_reference: NCI:C61257
has_obo_namespace: disease_ontology
database_cross_reference: GARD:10739
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference: UMLS_CUI:C0027877
database_cross_reference: ORDO:216
database_cross_reference: OMIM:PS256730
database_cross_reference: MESH:D009472
id: DOID:14503
has_exact_synonym: hereditary ceroid lipofuscinosis
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Niemann-Pick disease
type: Class
subclass of: sphingolipidosis
has_alternative_id: DOID:0050442
has_alternative_id: DOID:14770
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0028064
id: DOID:14504
definition: A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
database_cross_reference: NCI:C61269
database_cross_reference: SNOMEDCT_US_2020_03_01:58459009
database_cross_reference: ICD10CM:E75.24
database_cross_reference: MESH:D009542
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:13334
has_alternative_id: DOID:0050443
has_exact_synonym: Sphingomyelinase Deficiency Disease
has_exact_synonym: lipoid histiocytosis
has_exact_synonym: sphingomyelin lipidosis
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

WAGR syndrome
type: Class
subclass of: chromosomal deletion syndrome
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3718
database_cross_reference: GARD:5528
id: DOID:14515
database_cross_reference: SNOMEDCT_US_2020_03_01:715215007
database_cross_reference: MESH:D017624
comment: OMIM mapping confirmed by DO. [LS].
definition: A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
database_cross_reference: UMLS_CUI:C0206115
has_exact_synonym: 11p partial monosomy syndrome
database_cross_reference: OMIM:194072
has_exact_synonym: Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
has_exact_synonym: chromosome 11p13 deletion syndrome
in_subset: NCIthesaurus
imported from: doid.owl

Reye syndrome
type: Class
subclass of: syndrome
definition: A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.
database_cross_reference: UMLS_CUI:C0035400
database_cross_reference: ICD9CM:331.81
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7570
database_cross_reference: NCI:C34983
database_cross_reference: SNOMEDCT_US_2020_03_01:74351001
id: DOID:14525
database_cross_reference: MESH:D012202
database_cross_reference: ICD10CM:G93.7
has_exact_synonym: Reye's syndrome
in_subset: NCIthesaurus
imported from: doid.owl

root resorption
type: Class
subclass of: tooth resorption
database_cross_reference: MESH:D012391
id: DOID:14550
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0035851
imported from: doid.owl

primary pulmonary hypertension
type: Class
subclass of: chronic pulmonary heart disease
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:422
database_cross_reference: ICD10CM:I27.0
database_cross_reference: OMIM:178600
definition: A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.
database_cross_reference: UMLS_CUI:C0152171
database_cross_reference: NCI:C97119
database_cross_reference: OMIM:265400
database_cross_reference: OMIM:615344
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:26174007
database_cross_reference: OMIM:615342
database_cross_reference: ICD9CM:416.0
database_cross_reference: OMIM:615343
id: DOID:14557
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

glossitis
type: Class
subclass of: tongue disease
database_cross_reference: UMLS_CUI:C0017675
database_cross_reference: ICD9CM:529.0
id: DOID:1456
database_cross_reference: MESH:D005928
database_cross_reference: NCI:C112199
database_cross_reference: ICD10CM:K14.0
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155666003
in_subset: NCIthesaurus
imported from: doid.owl

disease of cellular proliferation
type: Class
subclass of: disease
id: DOID:14566
has_obo_namespace: disease_ontology
has_alternative_id: DOID:0000818
definition: A disease that is characterized by abnormally rapid cell division.
has_exact_synonym: cell process disease
IEDB alternative term: neoplasm
has_exact_synonym: neoplasm
in_subset: DO FlyBase slim
imported from: doid.owl

hypothyroidism
type: Class
subclass of: thyroid gland disease
database_cross_reference: UMLS_CUI:C0020676
database_cross_reference: SNOMEDCT_US_2020_03_01:267465007
definition: A thyroid gland disease which involves an underproduction of thyroid hormone.
has_obo_namespace: disease_ontology
id: DOID:1459
database_cross_reference: ICD10CM:E03.9
has_alternative_id: DOID:11630
database_cross_reference: MESH:D007037
database_cross_reference: EFO:0004705
database_cross_reference: ICD9CM:244.9
database_cross_reference: NCI:C26800
has_exact_synonym: Thyroid deficiency
has_exact_synonym: Thyroid insufficiency
in_subset: NCIthesaurus
imported from: doid.owl

papilledema
type: Class
subclass of: optic nerve disease
database_cross_reference: MESH:D010211
database_cross_reference: SNOMEDCT_US_2020_03_01:423341008
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:377.0
database_cross_reference: GARD:7318
database_cross_reference: UMLS_CUI:C0030353
id: DOID:146
database_cross_reference: NCI:C3307
database_cross_reference: ICD10CM:H47.1
in_subset: NCIthesaurus
imported from: doid.owl

prostatitis
type: Class
subclass of: prostate disease
database_cross_reference: UMLS_CUI:C0033581
database_cross_reference: ICD9CM:601.9
database_cross_reference: ICD10CM:N41.9
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155907007
database_cross_reference: NCI:C26866
database_cross_reference: MESH:D011472
id: DOID:14654
in_subset: NCIthesaurus
imported from: doid.owl

acrodysostosis
type: Class
subclass of: dysostosis
database_cross_reference: ORDO:950
has_obo_namespace: disease_ontology
definition: A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
database_cross_reference: SNOMEDCT_US_2020_03_01:66758006
database_cross_reference: UMLS_CUI:C0220659
database_cross_reference: OMIM:101800
database_cross_reference: MESH:C538179
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:614613
id: DOID:14669
database_cross_reference: GARD:5724
database_cross_reference: GARD:2015
imported from: doid.owl

multiple intestinal atresia
type: Class
subclass of: autosomal recessive disease
subclass of: intestinal disease
database_cross_reference: MESH:C562441
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:2300
id: DOID:14671
definition: An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in TTC7A on chromosome 2p21.
database_cross_reference: UMLS_CUI:C0220744
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:3013
has_exact_synonym: MEDDRA:10028210
has_exact_synonym: Multiple gastrointestinal atresias
database_cross_reference: SNOMEDCT_US_2020_03_01:95472001
database_cross_reference: OMIM:243150
has_exact_synonym: GIDID
has_exact_synonym: familial intestinal polyatresia syndrome
has_exact_synonym: gastrointestinal defects and immunodeficiency syndrome
imported from: doid.owl

VACTERL association
type: Class
subclass of: syndrome
database_cross_reference: MESH:C536534
has_obo_namespace: disease_ontology
id: DOID:14679
database_cross_reference: UMLS_CUI:C0220708
definition: A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
database_cross_reference: ICD10CM:Q87.2
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:276950
database_cross_reference: SNOMEDCT_US_2020_03_01:205830006
database_cross_reference: GARD:5443
database_cross_reference: OMIM:192350
has_related_synonym: VATER syndrome
imported from: doid.owl

labyrinthitis
type: Class
subclass of: otitis interna
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155239008
definition: An otitis interna which involves inflammation of the labyrinths.
database_cross_reference: ICD10CM:H83.0
database_cross_reference: MESH:D007762
database_cross_reference: ICD9CM:386.3
database_cross_reference: UMLS_CUI:C0022893
id: DOID:1468
imported from: doid.owl

Silver-Russell syndrome
type: Class
subclass of: physical disorder
database_cross_reference: MESH:D056730
database_cross_reference: UMLS_CUI:C0175693
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:180860
database_cross_reference: ICD10CM:Q87.19
database_cross_reference: GARD:4870
definition: A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.
database_cross_reference: SNOMEDCT_US_2020_03_01:15069006
database_cross_reference: NCI:C85068
id: DOID:14681
has_exact_synonym: Silver Russell Dwarfism
in_subset: NCIthesaurus
imported from: doid.owl

Axenfeld-Rieger syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: eye disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0265341
database_cross_reference: ORDO:782
database_cross_reference: SNOMEDCT_US_2020_03_01:47507006
database_cross_reference: NCI:C131001
definition: An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.
has_exact_synonym: Anomaly, Rieger's
has_exact_synonym: Axenfeld syndrome
database_cross_reference: ICD10CM:Q13.81
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:14686
database_cross_reference: GARD:5701
has_related_synonym: Hagedoom syndrome
has_exact_synonym: RGS - Rieger syndrome
has_exact_synonym: Rieger's anomaly
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

diastrophic dysplasia
type: Class
subclass of: autosomal recessive disease
subclass of: osteochondrodysplasia
database_cross_reference: MESH:C536170
has_obo_namespace: disease_ontology
definition: An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
database_cross_reference: SNOMEDCT_US_2020_03_01:58561002
database_cross_reference: GARD:6275
database_cross_reference: NCI:C156311
database_cross_reference: UMLS_CUI:C0220726
id: DOID:14687
database_cross_reference: OMIM:222600
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q77.5
imported from: doid.owl

Smith-Lemli-Opitz syndrome
type: Class
subclass of: lipid metabolism disorder
comment: OMIM mapping confirmed by DO. [LS].
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D019082
database_cross_reference: UMLS_CUI:C0175694
database_cross_reference: SNOMEDCT_US_2020_03_01:43929004
database_cross_reference: NCI:C85071
has_alternative_id: DOID:4366
database_cross_reference: OMIM:270400
database_cross_reference: GARD:5683
database_cross_reference: ICD10CM:E78.72
id: DOID:14692
has_exact_synonym: Rutledge lethal multiple congenital anomaly syndrome
has_exact_synonym: Smith-Opitz-Inborn syndrome
in_subset: NCIthesaurus
imported from: doid.owl

Clouston syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: ectodermal dysplasia
has_exact_synonym: Clouston's hidrotic ectodermal dysplasia
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:54209007
database_cross_reference: OMIM:129500
database_cross_reference: UMLS_CUI:C0162361
id: DOID:14693
database_cross_reference: MESH:D004476
database_cross_reference: GARD:2056
has_exact_synonym: Clouston's syndrome
has_exact_synonym: Hidrotic ectodermal dysplasia syndrome
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: ectodermal dysplasia 2, Clouston type
has_exact_synonym: hidrotic ectodermal dysplasia
imported from: doid.owl

Johanson-Blizzard syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:C535880
database_cross_reference: ORDO:2315
definition: A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.
id: DOID:14694
database_cross_reference: SNOMEDCT_US_2020_03_01:75979009
has_obo_namespace: disease_ontology
database_cross_reference: GARD:80
has_exact_synonym: JBS
database_cross_reference: UMLS_CUI:C0175692
database_cross_reference: OMIM:243800
imported from: doid.owl

galactokinase deficiency
type: Class
subclass of: galactosemia
database_cross_reference: ICD10CM:E74.29
database_cross_reference: MESH:D005693
database_cross_reference: OMIM:230200
definition: A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
id: DOID:14695
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0268155
database_cross_reference: GARD:2422
has_exact_synonym: Galactosemia II
database_cross_reference: NCI:C114767
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:124302001
in_subset: NCIthesaurus
imported from: doid.owl

thrombocytopenia-absent radius syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: chromosomal deletion syndrome
subclass of: syndrome
database_cross_reference: UMLS_CUI:C0175703
database_cross_reference: ORDO:3320
database_cross_reference: SNOMEDCT_US_2020_03_01:85589009
database_cross_reference: ICD10CM:Q87.2
database_cross_reference: MESH:C536940
id: DOID:14699
database_cross_reference: OMIM:274000
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C99038
comment: OMIM mapping confirmed by DO. [LS].
definition: A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.
has_exact_synonym: Radial aplasia-thrombocytopenia syndrome
has_exact_synonym: Thrombocytopenia with absent radii (TAR) syndrome
has_exact_synonym: chromosome 1q21.1 deletion syndrome
in_subset: NCIthesaurus
imported from: doid.owl

major depressive disorder
type: Class
subclass of: mental depression
database_cross_reference: ICD9CM:296.2
has_alternative_id: DOID:2240
has_alternative_id: DOID:2241
id: DOID:1470
database_cross_reference: ICD10CM:F32
comment: Xref MGI.
database_cross_reference: ICD9CM:296.3
database_cross_reference: OMIM:608691
database_cross_reference: SNOMEDCT_US_2020_03_01:268621008
database_cross_reference: NCI:C34796
database_cross_reference: ICD10CM:F33.9
database_cross_reference: UMLS_CUI:C0154409
has_obo_namespace: disease_ontology
definition: An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities.
database_cross_reference: SNOMEDCT_US_2020_03_01:36923009
database_cross_reference: OMIM:608520
database_cross_reference: UMLS_CUI:C0024517
has_alternative_id: DOID:7580
has_alternative_id: DOID:10614
has_exact_synonym: recurrent major depression
has_exact_synonym: single major depressive episode
in_subset: NCIthesaurus
imported from: doid.owl

propionic acidemia
type: Class
subclass of: organic acidemia
database_cross_reference: SNOMEDCT_US_2020_03_01:69080001
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:E71.121
database_cross_reference: UMLS_CUI:C2717876
definition: An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.
database_cross_reference: GARD:467
has_obo_namespace: disease_ontology
id: DOID:14701
database_cross_reference: MESH:D056693
database_cross_reference: NCI:C85030
has_alternative_id: DOID:14706
has_exact_synonym: GLYCINEMIA, KETOTIC
database_cross_reference: OMIM:606054
has_exact_synonym: KETOTIC HYPERGLYCINEMIA
database_cross_reference: UMLS_CUI:C0268579
has_exact_synonym: ketotic II glycinemia
has_exact_synonym: ketotic glycinemia
has_exact_synonym: propionic aciduria
has_exact_synonym: propionyl-CoA carboxylase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

branchiootorenal syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: MESH:D019280
database_cross_reference: GARD:10147
definition: A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
database_cross_reference: NCI:C98983
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:14702
database_cross_reference: SNOMEDCT_US_2020_03_01:290006
database_cross_reference: UMLS_CUI:C0265234
has_exact_synonym: Branchio-Oto-renal syndrome
has_exact_synonym: Branchio-otorenal dysplasia
database_cross_reference: MEDDRA:10071135
has_exact_synonym: Melnick-Fraser syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: branchiootorenal dysplasia
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

FG syndrome
type: Class
subclass of: X-linked recessive disease
subclass of: syndrome
database_cross_reference: ORDO:323
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:93932
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:300406
definition: A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
database_cross_reference: UMLS_CUI:C0220769
database_cross_reference: GARD:2317
has_exact_synonym: Keller syndrome
database_cross_reference: OMIM:300422
database_cross_reference: OMIM:300321
database_cross_reference: OMIM:305450
database_cross_reference: MESH:C537923
id: DOID:14711
database_cross_reference: OMIM:300581
has_exact_synonym: Opitz-Kaveggia syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:49984004
in_subset: DO rare slim
imported from: doid.owl

centronuclear myopathy
type: Class
subclass of: myopathy
definition: A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
database_cross_reference: UMLS_CUI:C0175709
database_cross_reference: MESH:D020914
database_cross_reference: NCI:C84648
database_cross_reference: GARD:101
database_cross_reference: SNOMEDCT_US_2020_03_01:193223007
has_obo_namespace: disease_ontology
id: DOID:14717
comment: Xref MGI.
database_cross_reference: ORDO:596
database_cross_reference: ORDO:595
database_cross_reference: ORDO:69186
database_cross_reference: ORDO:69189
has_exact_synonym: myotubular myopathy
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

beta-ketothiolase deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: amino acid metabolic disorder
comment: OMIM mapping confirmed by DO. [SN].
definition: An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.
database_cross_reference: UMLS_CUI:C1533628
has_exact_synonym: 2-methyl-3-hydroxybutyricacidemia
database_cross_reference: ORDO:134
database_cross_reference: SNOMEDCT_US_2020_03_01:238067002
has_exact_synonym: 3-ketothiolase deficiency
has_exact_synonym: 3-oxothiolase deficiency
database_cross_reference: GARD:872
has_exact_synonym: Mitochondrial acetoacetyl-CoA Thiolase deficiency
database_cross_reference: OMIM:203750
has_obo_namespace: disease_ontology
id: DOID:14723
database_cross_reference: MESH:C535818
has_exact_synonym: alpha-methylacetoaceticaciduria
has_exact_synonym: peroxisomal thiolase deficiency
imported from: doid.owl

autosomal dominant microcephaly
type: Class
subclass of: autosomal dominant disease
subclass of: microcephaly
has_obo_namespace: disease_ontology
id: DOID:14725
database_cross_reference: OMIM:156580
definition: A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0220693
database_cross_reference: MESH:C537323
imported from: doid.owl

Weaver syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: GARD:7878
database_cross_reference: GARD:5545
database_cross_reference: UMLS_CUI:C0220765
definition: A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36.
database_cross_reference: OMIM:277590
id: DOID:14731
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C562443
has_exact_synonym: WEAVER-LIKE SYNDROME
has_exact_synonym: Weaver-Williams syndrome
imported from: doid.owl

craniofrontonasal syndrome
type: Class
subclass of: X-linked dominant disease
subclass of: syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: CFND
has_exact_synonym: CFNS
database_cross_reference: SNOMEDCT_US_2020_03_01:715421009
database_cross_reference: GARD:1578
database_cross_reference: OMIM:304110
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0220767
database_cross_reference: ORDO:1520
database_cross_reference: MESH:C536456
definition: A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.
id: DOID:14737
has_exact_synonym: craniofrontonasal dysostosis
has_exact_synonym: craniofrontonasal dysplasia
imported from: doid.owl

aggressive periodontitis
type: Class
subclass of: periodontitis
id: DOID:1474
database_cross_reference: OMIM:170650
database_cross_reference: UMLS_CUI:C0031106
database_cross_reference: MESH:D010520
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:608526
database_cross_reference: SNOMEDCT_US_2020_03_01:449908004
database_cross_reference: ICD10CM:K05.2
has_obo_namespace: disease_ontology
definition: A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.
has_exact_synonym: juvenile periodontitis
imported from: doid.owl

trichorhinophalangeal syndrome type I
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: MESH:C536820
database_cross_reference: SNOMEDCT_US_2020_03_01:239016009
has_obo_namespace: disease_ontology
has_alternative_id: DOID:0050552
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: UMLS_CUI:C0432233
database_cross_reference: NCI:C75109
definition: A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
id: DOID:14743
database_cross_reference: OMIM:190350
has_related_synonym: Trichorhinophalangeal dysplasia type I
has_exact_synonym: trichorhinophalangeal syndrome type 1
has_exact_synonym: type I trichorhinophalangeal syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Partington syndrome
type: Class
subclass of: syndromic X-linked intellectual disability
subclass of: X-linked recessive disease
id: DOID:14744
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C562446
comment: OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference: UMLS_CUI:C0220775
database_cross_reference: OMIM:309510
database_cross_reference: GARD:4235
definition: A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
database_cross_reference: ORDO:94083
has_exact_synonym: X-linked Russell-Silver syndrome
in_subset: DO rare slim
imported from: doid.owl

Sotos syndrome
type: Class
subclass of: autosomal genetic disease
subclass of: syndrome
comment: Xref MGI.
database_cross_reference: NCI:C75019
database_cross_reference: UMLS_CUI:C0175695
has_obo_namespace: disease_ontology
definition: A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
database_cross_reference: GARD:10091
database_cross_reference: ORDO:821
database_cross_reference: SNOMEDCT_US_2020_03_01:75968004
id: DOID:14748
database_cross_reference: OMIM:PS117550
database_cross_reference: ICD10CM:Q87.3
database_cross_reference: MESH:D058495
has_exact_synonym: cerebral gigantism
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

methylmalonic acidemia
type: Class
subclass of: organic acidemia
id: DOID:14749
database_cross_reference: GARD:7033
has_alternative_id: DOID:14802
definition: An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14782
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: methylmalonic aciduria
imported from: doid.owl

lymphangioma
type: Class
subclass of: benign vascular tumor
database_cross_reference: ICD9CM:228.1
has_obo_namespace: disease_ontology
id: DOID:1475
database_cross_reference: NCI:C8965
database_cross_reference: UMLS_CUI:C0024221
database_cross_reference: SNOMEDCT_US_2020_03_01:154625006
database_cross_reference: MESH:D008202
database_cross_reference: GARD:9789
definition: A benign vascular tumor that is composed of dilated lymphatic channels.
has_exact_synonym: Congenital lymphangioma
database_cross_reference: ICD10CM:D18.1
has_exact_synonym: benign lymphangioma
in_subset: NCIthesaurus
imported from: doid.owl

isovaleric acidemia
type: Class
subclass of: organic acidemia
database_cross_reference: MESH:C538167
database_cross_reference: ICD10CM:E71.110
database_cross_reference: NCI:C98964
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:243500
database_cross_reference: UMLS_CUI:C0268575
definition: An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
database_cross_reference: SNOMEDCT_US_2020_03_01:87827003
database_cross_reference: GARD:465
id: DOID:14753
has_exact_synonym: Isovaleryl-CoA dehydrogenase deficiency
has_obo_namespace: disease_ontology
has_exact_synonym: isovaleric acid CoA dehydrogenase deficiency
has_exact_synonym: isovaleric aciduria
in_subset: NCIthesaurus
imported from: doid.owl

argininosuccinic aciduria
type: Class
subclass of: amino acid metabolic disorder
id: DOID:14755
database_cross_reference: OMIM:207900
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D056807
definition: An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
database_cross_reference: GARD:5843
database_cross_reference: NCI:C84569
database_cross_reference: SNOMEDCT_US_2020_03_01:41013004
has_exact_synonym: Argininosuccinate lyase deficiency
database_cross_reference: UMLS_CUI:C0268547
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: argininosuccinic acidemia
has_exact_synonym: arginosuccinase deficiency
has_exact_synonym: deficiency of argininosuccinate lyase
in_subset: NCIthesaurus
imported from: doid.owl

calcaneonavicular coalition
type: Class
subclass of: synostosis
definition: A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
database_cross_reference: UMLS_CUI:C0175700
id: DOID:14762
has_exact_synonym: Multiple synostosis syndrome
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: SNOMEDCT_US_2020_03_01:62628008
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:186400
has_exact_synonym: SYNOSTOSES, TARSAL, CARPAL AND DIGITAL
imported from: doid.owl

Larsen syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: OMIM:150250
comment: OMIM mapping confirmed by DO. [SN].
definition: Asyndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.
id: DOID:14764
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6860
has_exact_synonym: dominant larsen syndrome
imported from: doid.owl

renal agenesis
type: Class
subclass of: kidney disease
id: DOID:14766
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:93108
database_cross_reference: GARD:9228
database_cross_reference: OMIM:191830
definition: A renal disease that is characterized by the failure of one or both kidneys to develop.
has_exact_synonym: hereditary renal aplasia
has_exact_synonym: hereditary urogenital adysplasia
has_exact_synonym: renal adysplasia
has_exact_synonym: renal aplasia
imported from: doid.owl

cartilage-hair hypoplasia
type: Class
subclass of: autosomal recessive disease
subclass of: ectodermal dysplasia
database_cross_reference: MESH:C535916
definition: An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in RMRP on chromosome 9p13.3.
has_exact_synonym: McKusick type metaphyseal chondrodysplasia
database_cross_reference: NCI:C61245
has_alternative_id: DOID:0080022
database_cross_reference: SNOMEDCT_US_2020_03_01:234421004
id: DOID:14773
database_cross_reference: OMIM:250250
has_exact_synonym: Metaphyseal chondrodysplasia, McKusick type
database_cross_reference: UMLS_CUI:C0220748
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: CHH
in_subset: NCIthesaurus
imported from: doid.owl

blepharophimosis, ptosis, and epicanthus inversus syndrome
type: Class
subclass of: autosomal genetic disease
subclass of: syndrome
has_related_synonym: Blepharophimosis, ptosis, epicanthus inversus syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:79833006
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0220663
id: DOID:14778
database_cross_reference: MESH:C562419
database_cross_reference: OMIM:110100
definition: A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3.
has_obo_namespace: disease_ontology
imported from: doid.owl

KBG syndrome
type: Class
subclass of: spinal disease
subclass of: syndrome
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:711156009
definition: A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.
database_cross_reference: MESH:C537015
has_obo_namespace: disease_ontology
id: DOID:14780
database_cross_reference: GARD:82
database_cross_reference: ORDO:2332
database_cross_reference: UMLS_CUI:C0220687
database_cross_reference: OMIM:148050
in_subset: DO rare slim
imported from: doid.owl

spondyloepiphyseal dysplasia congenita
type: Class
subclass of: autosomal dominant disease
subclass of: spondyloepimetaphyseal dysplasia
database_cross_reference: OMIM:183900
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:14789
has_alternative_id: DOID:0080025
database_cross_reference: GARD:4987
has_exact_synonym: Late Spondyloepiphyseal Dysplasia
has_obo_namespace: disease_ontology
imported from: doid.owl

Leber congenital amaurosis
type: Class
subclass of: physical disorder
subclass of: retinal disease
database_cross_reference: GARD:634
database_cross_reference: UMLS_CUI:C0339527
database_cross_reference: OMIM:PS204000
database_cross_reference: SNOMEDCT_US_2020_03_01:193413001
database_cross_reference: MESH:D057130
id: DOID:14791
definition: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
has_exact_synonym: LCA
has_exact_synonym: Leber's amaurosis
has_exact_synonym: Leber's disease
has_obo_namespace: disease_ontology
has_exact_synonym: Leber's congenital amaurosis
database_cross_reference: ORDO:65
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C129075
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hypohidrotic ectodermal dysplasia
type: Class
subclass of: ectodermal dysplasia
has_exact_synonym: Christ-Siemens-Touraine Syndrome
has_obo_namespace: disease_ontology
database_cross_reference: GARD:76
database_cross_reference: ORDO:238468
database_cross_reference: MESH:D053358
database_cross_reference: SNOMEDCT_US_2020_03_01:239007005
database_cross_reference: NCI:C84562
database_cross_reference: OMIM:224900
definition: An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
database_cross_reference: UMLS_CUI:C0162359
id: DOID:14793
database_cross_reference: OMIM:129490
has_alternative_id: DOID:0050447
database_cross_reference: OMIM:300291
has_alternative_id: DOID:0050446
has_exact_synonym: Ectodermal Dysplasia 1, Anhydrotic
has_exact_synonym: Hypohidrotic X-linked ectodermal dysplasia
database_cross_reference: OMIM:305100
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: anhidrotic ectodermal dysplasia 3
in_subset: NCIthesaurus
imported from: doid.owl

Dubowitz syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
definition: A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
database_cross_reference: ICD10CM:Q87.19
database_cross_reference: MESH:C535718
database_cross_reference: SNOMEDCT_US_2020_03_01:2593002
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
database_cross_reference: MEDDRA:10059589
database_cross_reference: UMLS_CUI:C0175691
id: DOID:14796
has_exact_synonym: Dubowitz's syndrome
database_cross_reference: OMIM:223370
database_cross_reference: NCI:C125591
database_cross_reference: GARD:6290
in_subset: NCIthesaurus
imported from: doid.owl

gingival disease
type: Class
subclass of: periodontal disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:18718003
has_exact_synonym: gum disease
id: DOID:1483
definition: A periodontal disease that is located_in the gums.
database_cross_reference: UMLS_CUI:C0017563
database_cross_reference: MESH:D005882
imported from: doid.owl

cystic fibrosis
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: NCI:C2975
database_cross_reference: OMIM:219700
database_cross_reference: SNOMEDCT_US_2020_03_01:85809002
has_alternative_id: DOID:12447
database_cross_reference: ICD9CM:277.0
database_cross_reference: GARD:6233
definition: A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
id: DOID:1485
has_exact_synonym: CF
database_cross_reference: UMLS_CUI:C0010674
has_alternative_id: DOID:1484
database_cross_reference: MESH:D003550
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:E84
has_obo_namespace: disease_ontology
has_alternative_id: DOID:13383
has_alternative_id: DOID:14395
database_cross_reference: ORDO:586
has_exact_synonym: mucoviscidosis
in_subset: NCIthesaurus
imported from: doid.owl

echinococcosis
type: Class
subclass of: parasitic helminthiasis infectious disease
id: DOID:1496
database_cross_reference: ICD9CM:122
has_alternative_id: DOID:2783
database_cross_reference: UMLS_CUI:C0013502
database_cross_reference: SNOMEDCT_US_2020_03_01:154414008
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.
database_cross_reference: MESH:D004443
has_alternative_id: DOID:12149
has_exact_synonym: Echinococcosis of liver
database_cross_reference: ICD10CM:B67
database_cross_reference: NCI:C84682
has_obo_namespace: disease_ontology
has_exact_synonym: echinococcal disease
has_exact_synonym: hepatic echinococcosis
has_exact_synonym: hydatid disease
has_exact_synonym: hydatidosis
has_exact_synonym: liver echinococcus
has_exact_synonym: pulmonary echinococcosis
in_subset: NCIthesaurus
imported from: doid.owl

cholera
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: UMLS_CUI:C0008354
database_cross_reference: SNOMEDCT_US_2020_03_01:186087007
database_cross_reference: ICD10CM:A00
database_cross_reference: GARD:6043
id: DOID:1498
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002771
database_cross_reference: ICD9CM:001
definition: A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock.
has_exact_synonym: Cholera
has_exact_synonym: Cholera - Vibrio cholerae
has_exact_synonym: Cholera due to Vibrio cholerae
has_exact_synonym: Vibrio cholerae
in_subset: DO FlyBase slim
in_subset: GOLD
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

reproductive system disease
type: Class
subclass of: disease of anatomical entity
has_alternative_id: DOID:6309
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1335037
database_cross_reference: NCI:C27613
definition: A disease of anatomical entity that is located_in reproductive system organs.
id: DOID:15
has_exact_synonym: genital system disease
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

disease of mental health
type: Class
subclass of: disease
database_cross_reference: UMLS_CUI:C0004936
definition: A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
database_cross_reference: MESH:D001523
database_cross_reference: NCI:C2893
database_cross_reference: ICD10CM:F99
has_obo_namespace: disease_ontology
id: DOID:150
database_cross_reference: SNOMEDCT_US_2020_03_01:74732009
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

candidiasis
type: Class
subclass of: opportunistic mycosis
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26711
database_cross_reference: MESH:D002177
definition: An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
database_cross_reference: SNOMEDCT_US_2020_03_01:154403005
database_cross_reference: UMLS_CUI:C0006840
database_cross_reference: ICD9CM:112
id: DOID:1508
has_alternative_id: DOID:1507
has_exact_synonym: Disseminated candidiasis
database_cross_reference: ICD10CM:B37
has_exact_synonym: systemic candidiasis
in_subset: NCIthesaurus
imported from: doid.owl

avoidant personality disorder
type: Class
subclass of: personality disorder
id: DOID:1509
database_cross_reference: NCI:C92636
database_cross_reference: MESH:D010554
database_cross_reference: ICD9CM:301.82
database_cross_reference: UMLS_CUI:C0004444
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:F60.6
definition: A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction.
database_cross_reference: SNOMEDCT_US_2020_03_01:191771004
has_exact_synonym: anxious personality disorder
in_subset: NCIthesaurus
imported from: doid.owl

personality disorder
type: Class
subclass of: disease of mental health
database_cross_reference: SNOMEDCT_US_2020_03_01:191770003
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029707
id: DOID:1510
definition: A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
database_cross_reference: ICD9CM:301.8
has_exact_synonym: character disorder
imported from: doid.owl

cecal disease
type: Class
subclass of: intestinal disease
id: DOID:1518
definition: An intestinal disease located_in the cecum.
database_cross_reference: UMLS_CUI:C0007527
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:128525008
database_cross_reference: MESH:D002429
has_exact_synonym: disorder of cecum
imported from: doid.owl

cecum carcinoma
type: Class
subclass of: cecum cancer
subclass of: carcinoma
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:269538009
database_cross_reference: NCI:C3491
database_cross_reference: UMLS_CUI:C0149640
definition: A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has_exact_synonym: Caecum carcinoma
id: DOID:1519
has_exact_synonym: Cecal cancer
has_exact_synonym: carcinoma of cecum
in_subset: NCIthesaurus
imported from: doid.owl

cecum cancer
type: Class
subclass of: cecal disease
subclass of: large intestine cancer
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C18.0
id: DOID:1521
definition: A large intestine cancer that is located_in the cecum.
database_cross_reference: NCI:C9329
database_cross_reference: ICD9CM:153.4
database_cross_reference: MESH:D002430
database_cross_reference: UMLS_CUI:C0153437
database_cross_reference: SNOMEDCT_US_2020_03_01:93736007
has_exact_synonym: malignant neoplasm of caecum
has_exact_synonym: malignant tumor of the cecum
in_subset: NCIthesaurus
imported from: doid.owl

panniculitis
type: Class
subclass of: skin disease
definition: A skin disease that is characterized by inflammation of subcutaneous adipose tissue.
id: DOID:1526
database_cross_reference: UMLS_CUI:C0030326
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C112112
database_cross_reference: ICD10CM:M79.3
database_cross_reference: ICD9CM:729.30
database_cross_reference: SNOMEDCT_US_2020_03_01:268122002
database_cross_reference: MESH:D015434
in_subset: NCIthesaurus
imported from: doid.owl

penile disease
type: Class
subclass of: male reproductive system disease
database_cross_reference: UMLS_CUI:C0029785
id: DOID:1529
database_cross_reference: SNOMEDCT_US_2020_03_01:198558008
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:607.8
database_cross_reference: ICD10CM:N48.8
imported from: doid.owl

pleural disease
type: Class
subclass of: lower respiratory tract disease
has_obo_namespace: disease_ontology
has_alternative_id: DOID:1531
id: DOID:1532
database_cross_reference: UMLS_CUI:C0032226
database_cross_reference: SNOMEDCT_US_2020_03_01:88075009
database_cross_reference: MESH:D010995
definition: A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.
database_cross_reference: NCI:C26859
has_exact_synonym: disorder of pleura
has_exact_synonym: non-neoplastic pleural disease
in_subset: NCIthesaurus
imported from: doid.owl

mixed cell type cancer
type: Class
subclass of: cell type cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:8145008
has_alternative_id: DOID:1905
definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue.
database_cross_reference: NCI:C6930
id: DOID:154
database_cross_reference: MESH:D018198
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3729
database_cross_reference: UMLS_CUI:C0206625
database_cross_reference: UMLS_CUI:C1368354
has_exact_synonym: malignant mixed cancer
has_exact_synonym: malignant mixed neoplasm
has_related_synonym: malignant mixed tumor
has_related_synonym: mixed neoplasm
has_exact_synonym: mixed tumor
has_exact_synonym: mixed tumor, malignant
in_subset: NCIthesaurus
imported from: doid.owl

parathyroid carcinoma
type: Class
subclass of: parathyroid gland disease
subclass of: endocrine gland cancer
subclass of: carcinoma
database_cross_reference: NCI:C4906
database_cross_reference: ICD9CM:194.1
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3313
database_cross_reference: SNOMEDCT_US_2020_03_01:127020005
database_cross_reference: ICD10CM:C75.0
database_cross_reference: NCI:C9322
database_cross_reference: GARD:7329
definition: An endocrine gland cancer located_in the parathyroid glands located in the neck.
database_cross_reference: UMLS_CUI:C0687150
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:363481002
database_cross_reference: OMIM:608266
database_cross_reference: UMLS_CUI:C0153653
has_alternative_id: DOID:11006
id: DOID:1540
database_cross_reference: MESH:D010282
has_alternative_id: DOID:1541
has_exact_synonym: Parathyroid gland neoplasm
database_cross_reference: UMLS_CUI:C0030521
has_exact_synonym: carcinoma of Parathyroid gland
has_exact_synonym: malignant neoplasm of parathyroid gland
has_exact_synonym: malignant neoplasm of the Parathyroid
has_exact_synonym: malignant tumor of parathyroid gland
has_exact_synonym: neoplasm of parathyroid gland
has_related_synonym: parathyroid gland adenocarcinoma
has_exact_synonym: parathyroid gland cancer
has_exact_synonym: parathyroid neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

urticaria
type: Class
subclass of: skin disease
database_cross_reference: SNOMEDCT_US_2020_03_01:267817001
database_cross_reference: UMLS_CUI:C0029839
id: DOID:1555
database_cross_reference: ICD9CM:708.8
definition: A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
has_obo_namespace: disease_ontology
imported from: doid.owl

hypersensitivity reaction type III disease
type: Class
subclass of: hypersensitivity reaction disease
definition: A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury.
id: DOID:1557
database_cross_reference: MESH:D007105
database_cross_reference: UMLS_CUI:C0020951
has_obo_namespace: disease_ontology
has_exact_synonym: immune complex disease
imported from: doid.owl

angioedema
type: Class
subclass of: skin disease
database_cross_reference: MESH:D000799
database_cross_reference: NCI:C112175
has_exact_synonym: Quincke's edema
database_cross_reference: UMLS_CUI:C0002994
has_exact_synonym: Angioneurotic oedema
has_obo_namespace: disease_ontology
definition: A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues.
database_cross_reference: SNOMEDCT_US_2020_03_01:41291007
database_cross_reference: ICD10CM:T78.3
id: DOID:1558
has_exact_synonym: angioneurotic edema
has_exact_synonym: giant urticaria
in_subset: NCIthesaurus
imported from: doid.owl

cognitive disorder
type: Class
subclass of: disease of mental health
definition: A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
database_cross_reference: NCI:C34870
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:111479008
database_cross_reference: MESH:D019965
id: DOID:1561
database_cross_reference: UMLS_CUI:C0029227
database_cross_reference: ICD10CM:F09
has_related_synonym: Organic Mental disorder
has_exact_synonym: cognitive disease
in_subset: NCIthesaurus
imported from: doid.owl

chromoblastomycosis
type: Class
subclass of: subcutaneous mycosis
database_cross_reference: UMLS_CUI:C0008582
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:117.2
database_cross_reference: MESH:D002862
id: DOID:1562
definition: A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.
has_exact_synonym: Chromomycosis
database_cross_reference: SNOMEDCT_US_2020_03_01:187079000
database_cross_reference: ICD10CM:B43.9
database_cross_reference: GARD:1319
has_exact_synonym: Mossy foot disease
imported from: doid.owl

dermatomycosis
type: Class
subclass of: cutaneous mycosis
subclass of: skin disease
database_cross_reference: MESH:D003881
database_cross_reference: UMLS_CUI:C0011630
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:47382004
id: DOID:1563
database_cross_reference: ICD9CM:111.9
definition: A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes.
imported from: doid.owl

fungal infectious disease
type: Class
subclass of: disease by infectious agent
database_cross_reference: UMLS_CUI:C0026946
definition: A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.
database_cross_reference: ICD9CM:110-118.99
database_cross_reference: MESH:D009181
database_cross_reference: SNOMEDCT_US_2020_03_01:154393000
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:B49
id: DOID:1564
database_cross_reference: NCI:C3245
has_related_synonym: mycoses
has_exact_synonym: mycosis
in_subset: DO AGR slim
in_subset: NCIthesaurus
imported from: doid.owl

ectropion
type: Class
subclass of: eyelid disease
database_cross_reference: MESH:D004483
database_cross_reference: ICD9CM:374.1
id: DOID:1570
has_exact_synonym: Everted margin
database_cross_reference: SNOMEDCT_US_2020_03_01:155178000
database_cross_reference: ICD10CM:H02.1
has_exact_synonym: Ectropion of eyelid
database_cross_reference: UMLS_CUI:C0013592
has_obo_namespace: disease_ontology
imported from: doid.owl

normal pressure hydrocephalus
type: Class
subclass of: communicating hydrocephalus
has_obo_namespace: disease_ontology
id: DOID:1572
database_cross_reference: OMIM:236690
database_cross_reference: UMLS_CUI:C0020258
database_cross_reference: ICD10CM:G91.2
has_exact_synonym: Low pressure hydrocephalus
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D006850
database_cross_reference: SNOMEDCT_US_2020_03_01:30753002
imported from: doid.owl

communicating hydrocephalus
type: Class
subclass of: hydrocephalus
database_cross_reference: NCI:C34501
database_cross_reference: UMLS_CUI:C0009451
database_cross_reference: SNOMEDCT_US_2020_03_01:59013007
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G91.0
database_cross_reference: MESH:D006849
id: DOID:1573
database_cross_reference: ICD9CM:331.3
in_subset: NCIthesaurus
imported from: doid.owl

rheumatic disease
type: Class
subclass of: connective tissue disease
definition: A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
id: DOID:1575
has_obo_namespace: disease_ontology
imported from: doid.owl

respiratory system disease
type: Class
subclass of: disease of anatomical entity
database_cross_reference: ICD9CM:519
database_cross_reference: UMLS_CUI:C0029582
definition: A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
has_alternative_id: DOID:3226
id: DOID:1579
database_cross_reference: SNOMEDCT_US_2020_03_01:155603009
database_cross_reference: ICD10CM:J98
has_obo_namespace: disease_ontology
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
imported from: doid.owl

laryngeal tuberculosis
type: Class
subclass of: laryngitis
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A15.5
database_cross_reference: ICD9CM:012.3
database_cross_reference: MESH:D014387
definition: A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.
id: DOID:1583
database_cross_reference: UMLS_CUI:C0041315
database_cross_reference: SNOMEDCT_US_2020_03_01:70341005
database_cross_reference: NCI:C26895
in_subset: NCIthesaurus
imported from: doid.owl

acute chest syndrome
type: Class
subclass of: lung disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0742343
database_cross_reference: SNOMEDCT_US_2020_03_01:372146004
database_cross_reference: ICD9CM:517.3
id: DOID:1584
database_cross_reference: MESH:D056586
database_cross_reference: NCI:C138179
definition: A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.
has_exact_synonym: acute chest syndrome in sickle cell disease
in_subset: NCIthesaurus
imported from: doid.owl

rheumatic fever
type: Class
subclass of: bacterial infectious disease
database_cross_reference: UMLS_CUI:C0264743
database_cross_reference: SNOMEDCT_US_2020_03_01:274095001
database_cross_reference: NCI:C34984
definition: A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.
database_cross_reference: ICD10CM:I00
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:390
database_cross_reference: GARD:5699
database_cross_reference: ICD9CM:390-392.99
database_cross_reference: ICD10CM:I00-I02
database_cross_reference: SNOMEDCT_US_2020_03_01:155265007
database_cross_reference: UMLS_CUI:C0035436
database_cross_reference: MESH:D012213
id: DOID:1586
has_alternative_id: DOID:1006
has_alternative_id: DOID:1007
has_exact_synonym: ACUTE RHEUMATIC FEVER
has_exact_synonym: RhF - Rheumatic fever
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

thrombocytopenia due to platelet alloimmunization
type: Class
subclass of: thrombocytopenia
id: DOID:1587
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3991
has_exact_synonym: Auto-immune thrombocytopenia
has_exact_synonym: Immune thrombocytopenia
database_cross_reference: SNOMEDCT_US_2020_03_01:2897005
has_exact_synonym: Thrombocytopenia Due to Immune Destruction
database_cross_reference: UMLS_CUI:C0272286
in_subset: NCIthesaurus
imported from: doid.owl

thrombocytopenia
type: Class
subclass of: blood platelet disease
definition: A blood platelet disease that is characterized by low a platelet count in the blood.
database_cross_reference: OMIM:612004
database_cross_reference: OMIM:188000
database_cross_reference: ICD9CM:287.5
database_cross_reference: ORDO:852
has_obo_namespace: disease_ontology
comment: Xref MGI.
database_cross_reference: UMLS_CUI:C0040034
id: DOID:1588
database_cross_reference: OMIM:273900
database_cross_reference: ICD10CM:D69.6
database_cross_reference: OMIM:300367
database_cross_reference: SNOMEDCT_US_2020_03_01:165556002
database_cross_reference: OMIM:313900
database_cross_reference: MESH:D013921
in_subset: DO rare slim
imported from: doid.owl

endogenous depression
type: Class
subclass of: major depressive disorder
database_cross_reference: NCI:C34532
database_cross_reference: UMLS_CUI:C0041696
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0011573
has_alternative_id: DOID:6340
database_cross_reference: SNOMEDCT_US_2020_03_01:191599006
definition: A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system.
database_cross_reference: OMIM:608516
database_cross_reference: MESH:D003866
database_cross_reference: EFO:0003761
comment: OMIM mapping confirmed by DO. [LS].
id: DOID:1595
database_cross_reference: NCI:C35094
has_exact_synonym: clinical depression
has_exact_synonym: unipolar depression
in_subset: NCIthesaurus
imported from: doid.owl

mental depression
type: Class
subclass of: mood disorder
database_cross_reference: ICD10CM:F32.9
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2982
database_cross_reference: SNOMEDCT_US_2020_03_01:41006004
has_alternative_id: DOID:14672
database_cross_reference: UMLS_CUI:C0011570
database_cross_reference: MESH:D003863
id: DOID:1596
in_subset: NCIthesaurus
imported from: doid.owl

integumentary system disease
type: Class
subclass of: disease of anatomical entity
id: DOID:16
definition: A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
has_obo_namespace: disease_ontology
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
imported from: doid.owl

lymphadenitis
type: Class
subclass of: lymph node disease
database_cross_reference: UMLS_CUI:C0157705
has_alternative_id: DOID:1600
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:289.1
id: DOID:1602
database_cross_reference: NCI:C26821
database_cross_reference: SNOMEDCT_US_2020_03_01:156318008
database_cross_reference: ICD10CM:I88.1
database_cross_reference: SNOMEDCT_US_2020_03_01:19471005
has_alternative_id: DOID:9941
database_cross_reference: NCI:C26966
database_cross_reference: SNOMEDCT_US_2020_03_01:154836001
database_cross_reference: UMLS_CUI:C0024205
database_cross_reference: UMLS_CUI:C0154304
database_cross_reference: ICD10CM:L04
database_cross_reference: ICD9CM:683
database_cross_reference: MESH:D008199
has_exact_synonym: Adenitis
has_exact_synonym: Inflammation of lymph node
database_cross_reference: NCI:C26978
has_exact_synonym: acute adenitis
has_exact_synonym: acute lymphadenitis
has_exact_synonym: chronic Lymphadenitis
has_exact_synonym: chronic adenitis
in_subset: NCIthesaurus
imported from: doid.owl

hypoglycemic coma
type: Class
subclass of: brain disease
database_cross_reference: ICD10CM:E15
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:251.0
definition: A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom aberrant behavior, has_symptom seizure, and has_symptom coma.
database_cross_reference: UMLS_CUI:C0020617
database_cross_reference: SNOMEDCT_US_2020_03_01:267476006
id: DOID:1607
imported from: doid.owl

keratosis
type: Class
subclass of: skin disease
database_cross_reference: MESH:D007642
database_cross_reference: SNOMEDCT_US_2020_03_01:254666005
database_cross_reference: NCI:C34747
has_obo_namespace: disease_ontology
id: DOID:161
database_cross_reference: UMLS_CUI:C0022593
definition: A skin disease characterized_by growth of keratin on the skin or mucous membranes.
in_subset: NCIthesaurus
imported from: doid.owl

breast cancer
type: Class
subclass of: breast disease
subclass of: thoracic cancer
has_alternative_id: DOID:1648
database_cross_reference: NCI:C9335
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C50
id: DOID:1612
database_cross_reference: SNOMEDCT_US_2020_03_01:254837009
database_cross_reference: MESH:D001943
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:114480
definition: A thoracic cancer that originates in the mammary gland.
has_alternative_id: DOID:4241
database_cross_reference: UMLS_CUI:C0006142
has_exact_synonym: breast tumor
has_exact_synonym: malignant neoplasm of breast
has_exact_synonym: malignant tumor of the breast
has_exact_synonym: mammary cancer
has_related_synonym: mammary neoplasm
has_exact_synonym: mammary tumor
has_exact_synonym: primary breast cancer
in_subset: DO cancer slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

breast fibroadenoma
type: Class
subclass of: breast benign neoplasm
subclass of: adenoma
database_cross_reference: SNOMEDCT_US_2020_03_01:269640007
database_cross_reference: SNOMEDCT_US_2020_03_01:254847007
database_cross_reference: UMLS_CUI:C1333137
id: DOID:1618
database_cross_reference: NCI:C3744
database_cross_reference: ICD10CM:D24
has_obo_namespace: disease_ontology
definition: A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
database_cross_reference: SNOMEDCT_US_2020_03_01:65877006
database_cross_reference: NCI:C4276
database_cross_reference: UMLS_CUI:C0178421
has_alternative_id: DOID:2684
database_cross_reference: UMLS_CUI:C0206650
database_cross_reference: MESH:D018226
has_alternative_id: DOID:2693
has_alternative_id: DOID:7226
has_exact_synonym: Complex Fibroadenoma of breast
has_exact_synonym: Fibroadenoma
has_exact_synonym: Fibroadenoma of breast
has_exact_synonym: Juvenile fibroadenoma
database_cross_reference: UMLS_CUI:C0346158
database_cross_reference: NCI:C5194
has_exact_synonym: cellular Fibroadenoma
has_exact_synonym: fibroadenoma
has_exact_synonym: juvenile fibroadenoma of breast
in_subset: NCIthesaurus
imported from: doid.owl

cancer
type: Class
subclass of: disease of cellular proliferation
database_cross_reference: MESH:D009369
comment: Updating out dated UMLS CUI.
database_cross_reference: ICD9CM:199
definition: A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
database_cross_reference: ICDO:M8000/3
id: DOID:162
database_cross_reference: ICD10CM:C80.1
database_cross_reference: UMLS_CUI:C0006826
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:269513004
database_cross_reference: NCI:C9305
has_exact_synonym: malignant neoplasm
has_exact_synonym: malignant tumor
has_exact_synonym: primary cancer
in_subset: DO AGR slim
in_subset: DO FlyBase slim
in_subset: DO GXD slim
in_subset: NCIthesaurus
imported from: doid.owl

breast adenoma
type: Class
subclass of: breast benign neoplasm
subclass of: adenoma
definition: A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures.
database_cross_reference: NCI:C40382
database_cross_reference: UMLS_CUI:C1328385
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:269640007
id: DOID:1625
has_exact_synonym: Ademoma - breast
in_subset: NCIthesaurus
imported from: doid.owl

intraductal papilloma
type: Class
subclass of: papilloma
subclass of: intraductal breast benign neoplasm
database_cross_reference: NCI:C3785
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018300
database_cross_reference: SNOMEDCT_US_2020_03_01:5244003
id: DOID:1627
database_cross_reference: UMLS_CUI:C0206713
has_exact_synonym: ductal papilloma
in_subset: NCIthesaurus
imported from: doid.owl

breast adenomyoepithelioma
type: Class
subclass of: breast myoepithelial neoplasm
database_cross_reference: UMLS_CUI:C1510795
database_cross_reference: NCI:C6899
id: DOID:1642
has_alternative_id: DOID:6640
database_cross_reference: UMLS_CUI:C1334564
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5143
definition: A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
has_related_synonym: adenomyoepithelioma of the breast
has_exact_synonym: breast Adenomyoepithelioma with malignant Change
has_exact_synonym: malignant adenomyoepithelioma of breast
in_subset: NCIthesaurus
imported from: doid.owl

ventricular septal defect
type: Class
subclass of: heart septal defect
database_cross_reference: UMLS_CUI:C0018818
database_cross_reference: OMIM:614429
has_obo_namespace: disease_ontology
comment: Xref MGI.
database_cross_reference: OMIM:614431
database_cross_reference: OMIM:614432
id: DOID:1657
database_cross_reference: ICD9CM:745.4
database_cross_reference: ICD10CM:Q21.0
database_cross_reference: NCI:C84506
database_cross_reference: GARD:7853
database_cross_reference: MESH:D006345
definition: A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
has_exact_synonym: Interventricular septal defect
database_cross_reference: ORDO:1480
database_cross_reference: SNOMEDCT_US_2020_03_01:156914003
has_exact_synonym: Ventricular septal abnormality
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

supratentorial cancer
type: Class
subclass of: brain cancer
database_cross_reference: ICD10CM:C71.0
database_cross_reference: NCI:C3397
definition: A brain cancer that is located in the supratentorial region.
has_alternative_id: DOID:1658
has_obo_namespace: disease_ontology
has_exact_synonym: Brain neoplasm, Supratentorial
database_cross_reference: UMLS_CUI:C0751589
database_cross_reference: MESH:D015173
database_cross_reference: NCI:C4964
id: DOID:1659
database_cross_reference: UMLS_CUI:C0038874
has_exact_synonym: malignant Supratentorial tumor
in_subset: NCIthesaurus
imported from: doid.owl

melanotic neuroectodermal tumor
type: Class
subclass of: bone benign neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:1513001
database_cross_reference: NCI:C3717
database_cross_reference: MESH:D017600
id: DOID:166
has_exact_synonym: Infantile Melanotic neuroectodermal neoplasm
has_exact_synonym: Melanotic neuroectodermal tumor
has_exact_synonym: Melanotic neuroectodermal tumor of infancy
has_exact_synonym: Melanotic neuroectodermal tumour
has_exact_synonym: Melanotic neuroectodermal tumour of infancy
has_exact_synonym: Pigmented neuroectodermal tumour of infancy
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0206094
has_exact_synonym: melanotic neuroectodermal tumour
in_subset: NCIthesaurus
imported from: doid.owl

pineoblastoma
type: Class
subclass of: pineal gland cancer
definition: A pineal gland neoplasm located_in the brain.
database_cross_reference: MESH:D010871
database_cross_reference: SNOMEDCT_US_2020_03_01:31671006
database_cross_reference: UMLS_CUI:C0205898
id: DOID:1664
database_cross_reference: NCI:C9344
database_cross_reference: GARD:9369
has_exact_synonym: Pineal PNET
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

pneumothorax
type: Class
subclass of: pleural disease
id: DOID:1673
definition: A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall.
database_cross_reference: ICD10CM:J93.1
database_cross_reference: SNOMEDCT_US_2020_03_01:196103008
database_cross_reference: UMLS_CUI:C0029850
has_obo_namespace: disease_ontology
imported from: doid.owl

cystitis
type: Class
subclass of: bladder disease
definition: A bladder disease that is characterized by inflammation of the bladder.
id: DOID:1679
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0010692
database_cross_reference: ICD10CM:N30
database_cross_reference: ICD9CM:595
database_cross_reference: SNOMEDCT_US_2020_03_01:38822007
database_cross_reference: NCI:C26738
database_cross_reference: MESH:D003556
in_subset: NCIthesaurus
imported from: doid.owl

heart septal defect
type: Class
subclass of: congenital heart disease
database_cross_reference: UMLS_CUI:C0018816
has_exact_synonym: Cardiac septal defects
database_cross_reference: ICD10CM:Q21.9
database_cross_reference: SNOMEDCT_US_2020_03_01:204290008
database_cross_reference: MESH:D006343
database_cross_reference: NCI:C84482
has_exact_synonym: Congenital septal defect of heart
has_exact_synonym: Septal defect
has_obo_namespace: disease_ontology
id: DOID:1681
has_exact_synonym: septal defect
in_subset: NCIthesaurus
imported from: doid.owl

congenital heart disease
type: Class
subclass of: physical disorder
subclass of: heart disease
database_cross_reference: SNOMEDCT_US_2020_03_01:268315002
database_cross_reference: NCI:C34666
has_exact_synonym: Congenital Heart Defects
has_exact_synonym: Congenital anomaly of heart
database_cross_reference: ICD10CM:Q24.9
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D006330
database_cross_reference: UMLS_CUI:C0018798
database_cross_reference: ICD9CM:746.9
id: DOID:1682
has_exact_synonym: Heart Malformation
has_related_synonym: Heart-congenital defect
has_obo_namespace: disease_ontology
has_exact_synonym: congenital heart defect
has_exact_synonym: heart defect
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

glaucoma
type: Class
subclass of: eye disease
database_cross_reference: EFO:0000516
database_cross_reference: SNOMEDCT_US_2020_03_01:155120009
database_cross_reference: NCI:C26782
database_cross_reference: ICD10CM:H40
database_cross_reference: ICD9CM:365
database_cross_reference: UMLS_CUI:C0017601
has_obo_namespace: disease_ontology
definition: An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.
database_cross_reference: MESH:D005901
id: DOID:1686
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

neovascular glaucoma
type: Class
subclass of: glaucoma
has_obo_namespace: disease_ontology
id: DOID:1687
definition: A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoinmmune diseases.
database_cross_reference: UMLS_CUI:C0017609
database_cross_reference: SNOMEDCT_US_2020_03_01:193564003
database_cross_reference: MESH:D015355
has_exact_synonym: secondary angle-closure glaucoma with rubeosis
imported from: doid.owl

neuroendocrine tumor
type: Class
subclass of: endocrine gland cancer
database_cross_reference: MESH:D018358
id: DOID:169
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:55937004
definition: An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
database_cross_reference: UMLS_CUI:C0206754
database_cross_reference: ICD10CM:D3A.8
database_cross_reference: ICD9CM:209-209.99
database_cross_reference: NCI:C3809
has_exact_synonym: neuroendocrine neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

ichthyosis
type: Class
subclass of: skin disease
has_obo_namespace: disease_ontology
definition: A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed.
database_cross_reference: ORDO:79354
database_cross_reference: MESH:D007057
id: DOID:1697
has_exact_synonym: ichthyoses
has_exact_synonym: non-syndromic ichthyosis
imported from: doid.owl

musculoskeletal system disease
type: Class
subclass of: disease of anatomical entity
id: DOID:17
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:268047003
definition: A disease of anatomical entity that occurs in the muscular and/or skeletal system.
database_cross_reference: MESH:D009140
database_cross_reference: NCI:C107377
database_cross_reference: UMLS_CUI:C0026857
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

endocrine gland cancer
type: Class
subclass of: organ system cancer
id: DOID:170
database_cross_reference: SNOMEDCT_US_2020_03_01:93780007
database_cross_reference: NCI:C3010
database_cross_reference: ICD9CM:194.9
database_cross_reference: UMLS_CUI:C0153658
database_cross_reference: NCI:C3575
definition: An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
database_cross_reference: SNOMEDCT_US_2020_03_01:127015005
has_alternative_id: DOID:10009
has_exact_synonym: Endocrine tumor
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004701
database_cross_reference: UMLS_CUI:C0014132
database_cross_reference: ICD10CM:C75.9
has_exact_synonym: endocrine neoplasm
has_exact_synonym: malignant Endocrine tumor
has_exact_synonym: malignant neoplasm of endocrine gland
has_exact_synonym: malignant tumour of endocrine gland
has_exact_synonym: neoplasm of endocrine gland
has_exact_synonym: neoplasm of endocrine system
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

X-linked ichthyosis
type: Class
subclass of: X-linked recessive disease
subclass of: ichthyosis
database_cross_reference: OMIM:308100
database_cross_reference: UMLS_CUI:C0079588
database_cross_reference: SNOMEDCT_US_2020_03_01:72523005
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7904
database_cross_reference: ICD10CM:Q80.1
database_cross_reference: NCI:C84779
definition: An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
database_cross_reference: MESH:D016114
comment: OMIM mapping confirmed by DO. [LS].
id: DOID:1700
has_exact_synonym: X-linked ichthyosis with steryl-sulphatase deficiency
has_exact_synonym: X-linked placental steryl-sulphatase deficiency
has_exact_synonym: X-linked recessive ichthyosis
in_subset: NCIthesaurus
imported from: doid.owl

steroid inherited metabolic disorder
type: Class
subclass of: lipid metabolism disorder
database_cross_reference: MESH:D043202
id: DOID:1701
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1257809
definition: A lipid metabolism disorder that involves defects in steroid metabolism.
imported from: doid.owl

ichthyosis vulgaris
type: Class
subclass of: autosomal dominant disease
subclass of: ichthyosis
definition: An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.
database_cross_reference: SNOMEDCT_US_2020_03_01:205551004
database_cross_reference: NCI:C84778
database_cross_reference: ICD10CM:Q80.0
database_cross_reference: GARD:6752
id: DOID:1702
database_cross_reference: MESH:D016112
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:146700
has_exact_synonym: Dominant congenital ichthyosiform erythroderma
database_cross_reference: UMLS_CUI:C0079584
comment: OMIM mapping confirmed by DO. [SN].
in_subset: NCIthesaurus
imported from: doid.owl

neuroectodermal tumor
type: Class
subclass of: nervous system cancer
database_cross_reference: UMLS_CUI:C0206093
database_cross_reference: MESH:D017599
id: DOID:171
database_cross_reference: SNOMEDCT_US_2020_03_01:73676002
has_obo_namespace: disease_ontology
has_exact_synonym: primitive Neuroectodermal neoplasm
imported from: doid.owl

aortic valve stenosis
type: Class
subclass of: aortic valve disease
database_cross_reference: UMLS_CUI:C0152417
database_cross_reference: ICD10CM:I06.0
database_cross_reference: ICD10CM:Q25.1
database_cross_reference: UMLS_CUI:C0155567
database_cross_reference: MESH:D001024
database_cross_reference: SNOMEDCT_US_2020_03_01:60573004
id: DOID:1712
has_alternative_id: DOID:12034
has_obo_namespace: disease_ontology
has_alternative_id: DOID:1711
definition: An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.
database_cross_reference: ICD9CM:746.3
database_cross_reference: UMLS_CUI:C0003507
database_cross_reference: GARD:5830
database_cross_reference: SNOMEDCT_US_2020_03_01:18546004
database_cross_reference: ICD9CM:395.0
has_exact_synonym: Rheumatic aortic stenosis
database_cross_reference: SNOMEDCT_US_2020_03_01:155282009
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C50462
has_exact_synonym: Aortic stenosis
database_cross_reference: ICD10CM:Q23.0
has_exact_synonym: rheumatic aortic valve stenosis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

clear cell acanthoma
type: Class
subclass of: skin benign neoplasm
database_cross_reference: UMLS_CUI:C0333992
has_exact_synonym: Clear cell acanthoma
database_cross_reference: NCI:C97041
database_cross_reference: MESH:D049309
id: DOID:172
database_cross_reference: SNOMEDCT_US_2020_03_01:65540008
has_exact_synonym: Pale (Clear cell) acanthoma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

duodenal ulcer
type: Class
subclass of: peptic ulcer disease
has_alternative_id: DOID:10297
database_cross_reference: UMLS_CUI:C0013295
has_alternative_id: DOID:11480
comment: Adding UMLS CUI for Curling Ulcer C0013295.
database_cross_reference: SNOMEDCT_US_2020_03_01:39755000
database_cross_reference: ICD10CM:K26
has_alternative_id: DOID:9780
has_alternative_id: DOID:9781
has_alternative_id: DOID:9782
has_alternative_id: DOID:9783
database_cross_reference: MESH:D004381
database_cross_reference: UMLS_CUI:C0010474
database_cross_reference: ICD9CM:532
has_alternative_id: DOID:1723
id: DOID:1724
has_obo_namespace: disease_ontology
has_alternative_id: DOID:12880
has_alternative_id: DOID:13836
has_exact_synonym: Curling Ulcer
has_exact_synonym: Curling's ulcers
database_cross_reference: SNOMEDCT_US_2020_03_01:155691003
database_cross_reference: NCI:C26755
has_exact_synonym: Stress Ulcer
in_subset: NCIthesaurus
imported from: doid.owl

peritoneum cancer
type: Class
subclass of: organ system cancer
id: DOID:1725
definition: An organ system cancer that is located in the peritoneum.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:187808008
database_cross_reference: ICD10CM:C48.1
database_cross_reference: UMLS_CUI:C0153466
database_cross_reference: ICD9CM:158.8
has_related_synonym: cancer of peritoneum
has_related_synonym: peritoneal neoplasm
in_subset: DO MGI slim
in_subset: TopNodes DOcancerslim
imported from: doid.owl

retinal vein occlusion
type: Class
subclass of: retinal artery occlusion
subclass of: vein disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:46085004
database_cross_reference: UMLS_CUI:C0035328
database_cross_reference: NCI:C34981
database_cross_reference: MESH:D012170
id: DOID:1727
has_exact_synonym: Occlusion, of retinal vein
has_exact_synonym: Retinal vein occlusion
in_subset: NCIthesaurus
imported from: doid.owl

retinal vascular occlusion
type: Class
subclass of: retinal vascular disease
subclass of: peripheral vascular disease
database_cross_reference: ICD10CM:H34
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0035326
id: DOID:1729
database_cross_reference: NCI:C34980
database_cross_reference: SNOMEDCT_US_2020_03_01:267717005
database_cross_reference: ICD9CM:362.3
has_exact_synonym: Retinal vasc. occlusion
in_subset: NCIthesaurus
imported from: doid.owl

eccrine sweat gland neoplasm
type: Class
subclass of: sweat gland benign neoplasm
database_cross_reference: NCI:C6796
has_obo_namespace: disease_ontology
has_exact_synonym: Eccrine tumor
database_cross_reference: UMLS_CUI:C1333371
id: DOID:173
has_exact_synonym: eccrine skin neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

histoplasmosis
type: Class
subclass of: primary systemic mycosis
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C77201
definition: A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains.
id: DOID:1731
database_cross_reference: ICD9CM:115
database_cross_reference: UMLS_CUI:C0019655
database_cross_reference: MESH:C538362
database_cross_reference: UMLS_CUI:C0035288
database_cross_reference: ICD10CM:B39
database_cross_reference: SNOMEDCT_US_2020_03_01:266218008
database_cross_reference: NCI:C34977
database_cross_reference: MESH:D006660
has_alternative_id: DOID:351
in_subset: NCIthesaurus
imported from: doid.owl

cryptosporidiosis
type: Class
subclass of: coccidiosis
subclass of: intestinal disease
database_cross_reference: ICD9CM:007.4
database_cross_reference: UMLS_CUI:C0010418
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:186126003
has_exact_synonym: Cryptosporidial gastroenteritis
database_cross_reference: GARD:6219
database_cross_reference: MESH:D003457
has_alternative_id: DOID:1732
database_cross_reference: NCI:C128408
definition: A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
database_cross_reference: ICD10CM:A07.2
id: DOID:1733
has_exact_synonym: Infection by Cryptosporidium
has_exact_synonym: intestinal cryptosporidiosis
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

acanthoma
type: Class
subclass of: squamous cell neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7419
id: DOID:174
database_cross_reference: UMLS_CUI:C0846967
database_cross_reference: MESH:D049309
database_cross_reference: GARD:8604
in_subset: NCIthesaurus
imported from: doid.owl

drug psychosis
type: Class
subclass of: drug-induced mental disorder
database_cross_reference: ICD9CM:292.1
database_cross_reference: SNOMEDCT_US_2020_03_01:191498001
id: DOID:1742
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D011605
has_exact_synonym: Drug-induced psychosis
has_exact_synonym: Drug-induced psychotic disorder
database_cross_reference: UMLS_CUI:C0033937
imported from: doid.owl

squamous cell carcinoma
type: Class
subclass of: carcinoma
database_cross_reference: MESH:D002294
database_cross_reference: GARD:1091
database_cross_reference: UMLS_CUI:C0007137
definition: A carcinoma that derives_from squamous epithelial cells.
database_cross_reference: UMLS_CUI:C0751688
database_cross_reference: EFO:0000707
has_alternative_id: DOID:5512
database_cross_reference: SNOMEDCT_US_2020_03_01:154605007
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2929
database_cross_reference: MESH:D018307
id: DOID:1749
has_exact_synonym: epidermoid carcinoma
has_exact_synonym: malignant squamous cell tumor
has_exact_synonym: squamous carcinoma
has_exact_synonym: squamous cell Epithelioma
has_exact_synonym: squamous cell cancer
in_subset: NCIthesaurus
imported from: doid.owl

vascular cancer
type: Class
subclass of: cardiovascular cancer
subclass of: vascular disease
has_exact_synonym: Blood Vessel neoplasm
has_alternative_id: DOID:5454
database_cross_reference: UMLS_CUI:C1335753
has_alternative_id: DOID:7392
database_cross_reference: UMLS_CUI:C0346845
has_exact_synonym: Blood vessel tumour disorder
database_cross_reference: NCI:C5380
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5383
has_alternative_id: DOID:5548
database_cross_reference: NCI:C5388
database_cross_reference: NCI:C5348
database_cross_reference: UMLS_CUI:C1334630
definition: A cardiovascular cancer that is located_in blood vessels.
database_cross_reference: SNOMEDCT_US_2020_03_01:126737003
id: DOID:175
has_alternative_id: DOID:7019
database_cross_reference: MESH:D019043
database_cross_reference: UMLS_CUI:C1290407
has_alternative_id: DOID:3339
database_cross_reference: UMLS_CUI:C0282607
has_exact_synonym: Blood vessel tumor
has_alternative_id: DOID:7020
database_cross_reference: NCI:C7390
has_exact_synonym: Blood vessel tumors
has_exact_synonym: Haemangiomatous tumour
database_cross_reference: SNOMEDCT_US_2020_03_01:93817006
database_cross_reference: UMLS_CUI:C1334617
database_cross_reference: UMLS_CUI:C1334616
has_exact_synonym: blood vessel neoplasm
has_exact_synonym: leiomyosarcoma of the renal Vein
has_exact_synonym: malignant great vessel tumor
has_exact_synonym: malignant tumor of pulmonary Vein
has_exact_synonym: malignant tumor of pulmonary artery
has_exact_synonym: malignant vascular neoplasm
has_exact_synonym: malignant vascular tumor
has_exact_synonym: neoplasm of great vessel
has_exact_synonym: pulmonary artery malignant neoplasm
has_exact_synonym: pulmonary vein malignant neoplasm
has_exact_synonym: renal vein leiomyosarcoma
has_exact_synonym: vascular tissue neoplasm
has_exact_synonym: vascular tumors
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

mitral valve stenosis
type: Class
subclass of: mitral valve disease
database_cross_reference: SNOMEDCT_US_2020_03_01:79619009
database_cross_reference: UMLS_CUI:C0026269
database_cross_reference: NCI:C50654
database_cross_reference: MESH:D008946
definition: A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.
id: DOID:1754
has_exact_synonym: Mitral stenosis
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

facial nerve disease
type: Class
subclass of: cranial nerve disease
database_cross_reference: NCI:C27594
database_cross_reference: MESH:D005155
database_cross_reference: ICD9CM:351
database_cross_reference: UMLS_CUI:C0015464
database_cross_reference: ICD10CM:G51
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:90039006
id: DOID:1756
in_subset: NCIthesaurus
imported from: doid.owl

facial hemiatrophy
type: Class
subclass of: facial nerve disease
database_cross_reference: NCI:C84703
database_cross_reference: SNOMEDCT_US_2020_03_01:29868009
id: DOID:1757
has_exact_synonym: PARRY-ROMBERG SYNDROME
database_cross_reference: UMLS_CUI:C0015458
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:141300
database_cross_reference: MESH:D005150
comment: OMIM mapping confirmed by DO. [SN].
in_subset: NCIthesaurus
imported from: doid.owl

cardiovascular cancer
type: Class
subclass of: organ system cancer
subclass of: cardiovascular system disease
id: DOID:176
database_cross_reference: NCI:C4784
definition: An organ system cancer that located_in the heart and blood vessels.
has_exact_synonym: Cardiovascular tumors
has_exact_synonym: cardiovascular neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0497243
database_cross_reference: SNOMEDCT_US_2020_03_01:721573003
in_subset: NCIthesaurus
imported from: doid.owl

Melkersson-Rosenthal syndrome
type: Class
subclass of: facial nerve disease
has_exact_synonym: Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal
database_cross_reference: UMLS_CUI:C0025235
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:2511001
database_cross_reference: MESH:D008556
id: DOID:1761
database_cross_reference: ICD10CM:G51.2
has_exact_synonym: Melkersson's syndrome
database_cross_reference: OMIM:155900
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7010
database_cross_reference: NCI:C84886
in_subset: NCIthesaurus
imported from: doid.owl

toxic megacolon
type: Class
subclass of: megacolon
id: DOID:1770
database_cross_reference: UMLS_CUI:C0025162
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:28536002
database_cross_reference: MESH:D008532
database_cross_reference: ICD10CM:K59.31
imported from: doid.owl

vascular disease
type: Class
subclass of: cardiovascular system disease
database_cross_reference: MESH:D014652
database_cross_reference: NCI:C26693
database_cross_reference: SNOMEDCT_US_2020_03_01:432119003
database_cross_reference: ICD9CM:442.9
has_alternative_id: DOID:324
has_alternative_id: DOID:325
database_cross_reference: SNOMEDCT_US_2020_03_01:371029002
database_cross_reference: MESH:D000783
database_cross_reference: UMLS_CUI:C0752127
database_cross_reference: UMLS_CUI:C0042373
definition: A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
database_cross_reference: MESH:D020758
database_cross_reference: UMLS_CUI:C0752130
database_cross_reference: ICD10CM:I72.9
has_alternative_id: DOID:0000405
database_cross_reference: NCI:C35117
database_cross_reference: UMLS_CUI:C0002940
has_alternative_id: DOID:2869
has_alternative_id: DOID:45
database_cross_reference: SNOMEDCT_US_2020_03_01:27550009
id: DOID:178
has_obo_namespace: disease_ontology
has_alternative_id: DOID:2403
database_cross_reference: MESH:D020760
has_exact_synonym: vascular tissue disease
in_subset: NCIthesaurus
imported from: doid.owl

thyroid gland cancer
type: Class
subclass of: endocrine gland cancer
subclass of: thyroid gland disease
database_cross_reference: KEGG:05216
database_cross_reference: NCI:C7510
id: DOID:1781
database_cross_reference: ICD10CM:C73
database_cross_reference: SNOMEDCT_US_2020_03_01:94098005
database_cross_reference: ICD9CM:193
has_obo_namespace: disease_ontology
definition: An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.
database_cross_reference: NCI:C3414
database_cross_reference: UMLS_CUI:C0040136
database_cross_reference: SNOMEDCT_US_2020_03_01:127018007
database_cross_reference: UMLS_CUI:C0007115
database_cross_reference: MESH:D013964
has_alternative_id: DOID:10008
has_exact_synonym: Thyroid gland neoplasm
has_exact_synonym: malignant neoplasm of thyroid gland
has_exact_synonym: malignant tumour of thyroid gland
has_exact_synonym: neoplasm of thyroid gland
has_exact_synonym: thyroid neoplasm
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

pituitary cancer
type: Class
subclass of: endocrine gland cancer
subclass of: pituitary gland disease
database_cross_reference: SNOMEDCT_US_2020_03_01:93964007
database_cross_reference: ICD10CM:C75.1
database_cross_reference: NCI:C3330
definition: An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
database_cross_reference: SNOMEDCT_US_2020_03_01:127024001
id: DOID:1785
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4769
database_cross_reference: UMLS_CUI:C0496842
database_cross_reference: GARD:9371
database_cross_reference: MESH:D010911
database_cross_reference: UMLS_CUI:C0032019
has_alternative_id: DOID:5671
has_exact_synonym: Pituitary gland neoplasm
has_exact_synonym: malignant Pituitary neoplasm
has_exact_synonym: malignant tumor of pituitary gland
has_exact_synonym: neoplasm of pituitary gland
has_exact_synonym: pituitary gland cancer
has_exact_synonym: pituitary neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

adrenal rest tumor
type: Class
subclass of: endocrine organ benign neoplasm
database_cross_reference: MESH:D000314
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2860
id: DOID:1786
has_exact_synonym: Adrenal Rest neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:54292009
database_cross_reference: UMLS_CUI:C0001630
in_subset: NCIthesaurus
imported from: doid.owl

pericarditis
type: Class
subclass of: pericardium disease
database_cross_reference: MESH:D010493
database_cross_reference: UMLS_CUI:C0031046
database_cross_reference: SNOMEDCT_US_2020_03_01:3238004
database_cross_reference: NCI:C34915
definition: A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
id: DOID:1787
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

peritoneal mesothelioma
type: Class
subclass of: peritoneum cancer
subclass of: squamous cell carcinoma
has_alternative_id: DOID:0050874
database_cross_reference: UMLS_CUI:C0346109
database_cross_reference: NCI:C9350
has_alternative_id: DOID:7954
database_cross_reference: UMLS_CUI:C0854886
database_cross_reference: ICD10CM:C45.1
definition: A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.
database_cross_reference: NCI:C8704
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:187806007
id: DOID:1788
has_exact_synonym: Advanced malignant Mesothelioma of Peritoneum
has_exact_synonym: advanced malignant peritoneal mesothelioma
has_exact_synonym: malignant mesothelioma of peritoneum
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

malignant mesothelioma
type: Class
subclass of: cell type cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:109378008
database_cross_reference: UMLS_CUI:C0392400
database_cross_reference: OMIM:156240
id: DOID:1790
database_cross_reference: NCI:C7865
database_cross_reference: UMLS_CUI:C0278752
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4456
database_cross_reference: UMLS_CUI:C1332338
definition: A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs.
has_exact_synonym: Diffuse malignant Mesothelioma
database_cross_reference: UMLS_CUI:C0345967
database_cross_reference: NCI:C8420
database_cross_reference: NCI:C27926
has_alternative_id: DOID:4487
has_alternative_id: DOID:6965
database_cross_reference: MESH:C562839
has_alternative_id: DOID:7434
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: advanced malignant mesothelioma
has_exact_synonym: asbestos-related malignant mesothelioma
has_exact_synonym: malignant tumor of Mesothelium
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

peritoneal carcinoma
type: Class
subclass of: peritoneum cancer
subclass of: carcinoma
subclass of: gastrointestinal system cancer
database_cross_reference: UMLS_CUI:C1514428
database_cross_reference: NCI:C40022
id: DOID:1791
has_obo_namespace: disease_ontology
definition: A carcinoma that is located_in the inside of the abdomen.
has_exact_synonym: primary peritoneal carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

pancreatic cancer
type: Class
subclass of: endocrine gland cancer
subclass of: pancreas disease
has_alternative_id: DOID:3588
has_obo_namespace: disease_ontology
definition: An endocrine gland cancer located_in the pancreas.
has_exact_synonym: Ca tail of pancreas
database_cross_reference: UMLS_CUI:C0153460
database_cross_reference: UMLS_CUI:C0153463
has_alternative_id: DOID:1797
database_cross_reference: MESH:D010190
database_cross_reference: ORDO:217074
database_cross_reference: SNOMEDCT_US_2020_03_01:187796007
database_cross_reference: UMLS_CUI:C0030297
database_cross_reference: UMLS_CUI:C0153458
database_cross_reference: UMLS_CUI:C0153459
database_cross_reference: SNOMEDCT_US_2020_03_01:94082003
has_exact_synonym: Ca head of pancreas
database_cross_reference: SNOMEDCT_US_2020_03_01:93715005
database_cross_reference: SNOMEDCT_US_2020_03_01:126859007
database_cross_reference: ICD10CM:C25.2
database_cross_reference: ICD10CM:C25.0
database_cross_reference: ICD10CM:C25.1
has_exact_synonym: Ca body of pancreas
database_cross_reference: SNOMEDCT_US_2020_03_01:93823001
database_cross_reference: KEGG:05212
id: DOID:1793
database_cross_reference: NCI:C3305
database_cross_reference: ICD9CM:157.8
has_alternative_id: DOID:9859
has_alternative_id: DOID:14356
database_cross_reference: ICD9CM:157.2
database_cross_reference: ICD9CM:157.1
database_cross_reference: ICD9CM:157.0
comment: Xref MGI.
database_cross_reference: ORDO:1333
database_cross_reference: GARD:9364
has_exact_synonym: malignant neoplasm of body of pancreas
has_exact_synonym: malignant neoplasm of head of pancreas
has_exact_synonym: malignant neoplasm of tail of pancreas
has_exact_synonym: pancreas neoplasm
has_exact_synonym: pancreatic neoplasm
has_exact_synonym: pancreatic tumor
in_subset: DO rare slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

malignant exocrine pancreas neoplasm
type: Class
subclass of: pancreatic cancer
database_cross_reference: UMLS_CUI:C0346648
database_cross_reference: NCI:C7430
database_cross_reference: SNOMEDCT_US_2020_03_01:255088001
has_alternative_id: DOID:1794
id: DOID:1795
has_obo_namespace: disease_ontology
definition: A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.
has_exact_synonym: malignant neoplasm of the Exocrine pancreas
has_exact_synonym: malignant tumor of exocrine pancreas
has_exact_synonym: malignant tumour of exocrine pancreas
in_subset: NCIthesaurus
imported from: doid.owl

pancreatic endocrine carcinoma
type: Class
subclass of: islet cell tumor
definition: An islet cell tumor that has_material_basis_in epithelial cells.
database_cross_reference: ICD10CM:C25.4
database_cross_reference: ICD9CM:157.4
database_cross_reference: UMLS_CUI:C1328479
database_cross_reference: GARD:13034
has_exact_synonym: Islet cell carcinoma
database_cross_reference: NCI:C3770
database_cross_reference: MESH:D018273
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:254612002
id: DOID:1798
has_exact_synonym: carcinoma of endocrine pancreas
has_exact_synonym: malignant neoplasm of islets of Langerhans
has_exact_synonym: pancreatic neuroendocrine carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

islet cell tumor
type: Class
subclass of: pancreatic cancer
database_cross_reference: UMLS_CUI:C0496784
database_cross_reference: UMLS_CUI:C0242363
database_cross_reference: ICD10CM:D13.7
database_cross_reference: SNOMEDCT_US_2020_03_01:261713004
definition: A pancreatic cancer that is located_in the pancreatic islet cells.
has_alternative_id: DOID:10165
database_cross_reference: ICD10CM:C25.4
has_exact_synonym: Islet cell tumor
has_exact_synonym: Islet cell tumour
database_cross_reference: MESH:D007516
has_exact_synonym: Islet cell neoplasm
has_obo_namespace: disease_ontology
id: DOID:1799
database_cross_reference: SNOMEDCT_US_2020_03_01:254611009
database_cross_reference: NCI:C27031
has_exact_synonym: endocrine pancreas cancer
has_exact_synonym: islet cell tumour
has_exact_synonym: malignant pancreatic Endocrine tumor
has_exact_synonym: malignant pancreatic Endocrine tumour
has_exact_synonym: malignant tumor of endocrine pancreas
has_exact_synonym: malignant tumour of endocrine pancreas
has_exact_synonym: pancreatic Endocrine neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

urinary system disease
type: Class
subclass of: disease of anatomical entity
has_obo_namespace: disease_ontology
definition: A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
id: DOID:18
database_cross_reference: NCI:C27599
has_alternative_id: DOID:579
has_exact_synonym: Non-neoplastic urinary tract disease
database_cross_reference: UMLS_CUI:C1335051
has_exact_synonym: urinary tract disease
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

ossifying fibroma
type: Class
subclass of: bone benign neoplasm
id: DOID:180
database_cross_reference: NCI:C8422
has_exact_synonym: Fibro-osteoma
database_cross_reference: SNOMEDCT_US_2020_03_01:189896007
database_cross_reference: MESH:D018214
definition: A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0206640
has_related_synonym: peripheral ossifying fibroma
in_subset: NCIthesaurus
imported from: doid.owl

neuroendocrine carcinoma
type: Class
subclass of: carcinoma
id: DOID:1800
database_cross_reference: MESH:D018278
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0206695
definition: A carcinoma that derives_from neuroendocrine cells.
database_cross_reference: NCI:C3773
database_cross_reference: SNOMEDCT_US_2020_03_01:55937004
in_subset: NCIthesaurus
imported from: doid.owl

mononeuritis
type: Class
subclass of: mononeuropathy
database_cross_reference: SNOMEDCT_US_2020_03_01:32595002
has_obo_namespace: disease_ontology
id: DOID:1802
database_cross_reference: MESH:D020422
database_cross_reference: ICD9CM:355.9
database_cross_reference: UMLS_CUI:C0235880
imported from: doid.owl

neuritis
type: Class
subclass of: neuropathy
database_cross_reference: NCI:C116381
database_cross_reference: UMLS_CUI:C0027813
database_cross_reference: SNOMEDCT_US_2020_03_01:247378004
has_obo_namespace: disease_ontology
id: DOID:1803
database_cross_reference: MESH:D009443
has_exact_synonym: peripheral neuritis
in_subset: NCIthesaurus
imported from: doid.owl

reflex sympathetic dystrophy
type: Class
subclass of: complex regional pain syndrome
id: DOID:1811
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D012019
database_cross_reference: UMLS_CUI:C0034931
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:G90.5
database_cross_reference: OMIM:604335
database_cross_reference: SNOMEDCT_US_2020_03_01:203492008
database_cross_reference: NCI:C85042
database_cross_reference: ICD9CM:337.2
in_subset: NCIthesaurus
imported from: doid.owl

calcinosis
type: Class
subclass of: calcium metabolism disease
database_cross_reference: UMLS_CUI:C0006663
id: DOID:182
database_cross_reference: NCI:C3672
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002114
definition: A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
database_cross_reference: SNOMEDCT_US_2020_03_01:237881004
has_exact_synonym: Pathologically calcified structure
has_exact_synonym: pathologic calcification
in_subset: NCIthesaurus
imported from: doid.owl

childhood absence epilepsy
type: Class
subclass of: childhood electroclinical syndrome
database_cross_reference: MESH:D004832
database_cross_reference: NCI:C3023
has_obo_namespace: disease_ontology
definition: A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
database_cross_reference: UMLS_CUI:C0014553
id: DOID:1825
database_cross_reference: SNOMEDCT_US_2020_03_01:163596002
has_related_synonym: absence seizure
has_exact_synonym: petit mal seizure
has_exact_synonym: pyknolepsy
in_subset: NCIthesaurus
imported from: doid.owl

epilepsy
type: Class
subclass of: brain disease
database_cross_reference: SNOMEDCT_US_2020_03_01:267698007
definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
database_cross_reference: ICD9CM:345.9
database_cross_reference: UMLS_CUI:C0014544
database_cross_reference: EFO:0000474
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004827
id: DOID:1826
database_cross_reference: ICD10CM:G40.909
database_cross_reference: NCI:C3020
has_exact_synonym: epilepsy syndrome
has_exact_synonym: epileptic syndrome
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

idiopathic generalized epilepsy
type: Class
subclass of: epilepsy
database_cross_reference: SNOMEDCT_US_2020_03_01:155043003
database_cross_reference: UMLS_CUI:C0014548
id: DOID:1827
definition: An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.
has_exact_synonym: Generalised epilepsy
database_cross_reference: NCI:C3021
database_cross_reference: OMIM:600669
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004829
comment: Xref MGI.
in_subset: NCIthesaurus
imported from: doid.owl

urethral stricture
type: Class
subclass of: urethral obstruction
database_cross_reference: UMLS_CUI:C0029752
database_cross_reference: ICD9CM:598.8
id: DOID:1829
has_obo_namespace: disease_ontology
imported from: doid.owl

Menkes disease
type: Class
subclass of: metal metabolism disorder
has_obo_namespace: disease_ontology
has_exact_synonym: COPPER TRANSPORT DISEASE
database_cross_reference: NCI:C75486
id: DOID:1838
database_cross_reference: MESH:D007706
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:1521
has_exact_synonym: Menkes kinky-hair syndrome
database_cross_reference: OMIM:309400
database_cross_reference: SNOMEDCT_US_2020_03_01:59178007
database_cross_reference: UMLS_CUI:C0022716
has_exact_synonym: steely hair syndrome
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

bone cancer
type: Class
subclass of: bone disease
subclass of: connective tissue cancer
database_cross_reference: UMLS_CUI:C0005967
has_obo_namespace: disease_ontology
definition: A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
has_exact_synonym: CA - bone cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:126537000
database_cross_reference: NCI:C9343
has_alternative_id: DOID:3348
database_cross_reference: MESH:D001859
id: DOID:184
has_exact_synonym: bone neoplasm
has_exact_synonym: bone tumour
has_exact_synonym: malignant bone neoplasm
has_exact_synonym: malignant bone tumour
has_exact_synonym: malignant neoplasm of bone
has_exact_synonym: malignant osseous tumor
has_exact_synonym: neoplasm of bone
has_exact_synonym: osseous tumor
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

cannabis dependence
type: Class
subclass of: hallucinogen dependence
has_obo_namespace: disease_ontology
id: DOID:1849
database_cross_reference: UMLS_CUI:C0006870
database_cross_reference: SNOMEDCT_US_2020_03_01:268766005
definition: A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
database_cross_reference: MESH:D002189
database_cross_reference: ICD10CM:F12.2
database_cross_reference: NCI:C34445
database_cross_reference: ICD9CM:304.3
in_subset: NCIthesaurus
imported from: doid.owl

intrahepatic cholestasis
type: Class
subclass of: cholestasis
definition: A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
has_exact_synonym: neonatal intrahepatic cholestasis
comment: Xref MGI.
database_cross_reference: UMLS_CUI:C0008372
database_cross_reference: ORDO:284385
database_cross_reference: MESH:D002780
has_obo_namespace: disease_ontology
database_cross_reference: GARD:10214
id: DOID:1852
database_cross_reference: SNOMEDCT_US_2020_03_01:4637005
database_cross_reference: NCI:C84400
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

cherubism
type: Class
subclass of: autosomal dominant disease
subclass of: skin disease
definition: A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in SH3BP2 on chromosome 4p16.3.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84630
database_cross_reference: ICD10CM:M27.8
database_cross_reference: MESH:D002636
database_cross_reference: UMLS_CUI:C0008029
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:118400
database_cross_reference: GARD:6036
id: DOID:1856
database_cross_reference: SNOMEDCT_US_2020_03_01:76098004
in_subset: NCIthesaurus
imported from: doid.owl

McCune Albright syndrome
type: Class
subclass of: autosomal genetic disease
subclass of: syndrome
database_cross_reference: GARD:6995
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q78.1
database_cross_reference: UMLS_CUI:C0016065
database_cross_reference: OMIM:174800
database_cross_reference: NCI:C34610
id: DOID:1858
has_alternative_id: DOID:11345
database_cross_reference: ICD9CM:756.54
has_obo_namespace: disease_ontology
definition: A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
database_cross_reference: SNOMEDCT_US_2020_03_01:726029005
has_exact_synonym: fibrous dysplasia of bone
has_exact_synonym: osteitis fibrosa disseminata
has_exact_synonym: polyostotic fibrous dysplasia
in_subset: NCIthesaurus
imported from: doid.owl

jaw cancer
type: Class
subclass of: bone cancer
has_obo_namespace: disease_ontology
definition: A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone.
id: DOID:1862
database_cross_reference: UMLS_CUI:C0022364
database_cross_reference: MESH:D007573
database_cross_reference: SNOMEDCT_US_2020_03_01:126634001
has_related_synonym: jaw neoplasm
has_exact_synonym: neoplasm of jaw
imported from: doid.owl

skull cancer
type: Class
subclass of: bone cancer
database_cross_reference: NCI:C3375
database_cross_reference: MESH:D012888
id: DOID:1863
database_cross_reference: SNOMEDCT_US_2020_03_01:126538005
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0037305
in_subset: NCIthesaurus
imported from: doid.owl

giant cell reparative granuloma
type: Class
subclass of: bone giant cell tumor
database_cross_reference: UMLS_CUI:C0162375
database_cross_reference: MESH:D006101
database_cross_reference: SNOMEDCT_US_2020_03_01:15350006
database_cross_reference: ICD10CM:M27.1
database_cross_reference: ICD9CM:526.3
id: DOID:1866
has_exact_synonym: central giant cell (reparative) granuloma
has_exact_synonym: central giant cell granuloma
has_exact_synonym: central giant cell reparative granuloma of jaw
has_obo_namespace: disease_ontology
imported from: doid.owl

impotence
type: Class
subclass of: sexual dysfunction
id: DOID:1875
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0004234
has_exact_synonym: Sexual impotence
has_exact_synonym: erectile dysfunction
imported from: doid.owl

sexual dysfunction
type: Class
subclass of: sexual disorder
database_cross_reference: ICD10CM:F52.9
id: DOID:1876
database_cross_reference: NCI:C3347
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:39894007
database_cross_reference: UMLS_CUI:C0549622
in_subset: NCIthesaurus
imported from: doid.owl

atrial heart septal defect
type: Class
subclass of: heart septal defect
database_cross_reference: OMIM:PS108800
database_cross_reference: MESH:D006344
database_cross_reference: SNOMEDCT_US_2020_03_01:156915002
database_cross_reference: NCI:C84473
database_cross_reference: ICD10CM:Q21.1
database_cross_reference: ORDO:1478
database_cross_reference: UMLS_CUI:C0018817
definition: A heart septal defect located_in in the septum that separates the two atria of the heart.
has_obo_namespace: disease_ontology
comment: Xref MGI.
id: DOID:1882
has_exact_synonym: atrial septal defect
has_exact_synonym: atrioseptal defect
has_exact_synonym: auricular septal defect
has_exact_synonym: congenital atrial septal defect
has_exact_synonym: interatrial septal defect
has_exact_synonym: interauricular septal defect
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hepatitis C
type: Class
subclass of: viral infectious disease
database_cross_reference: MESH:D006526
database_cross_reference: EFO:0003047
definition: A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
database_cross_reference: UMLS_CUI:C0019196
database_cross_reference: SNOMEDCT_US_2020_03_01:154349000
has_alternative_id: DOID:12432
has_alternative_id: DOID:12430
has_alternative_id: DOID:2049
database_cross_reference: NCI:C3098
database_cross_reference: ICD9CM:070.7
database_cross_reference: ICD10CM:B19.20
has_exact_synonym: NANBH
has_exact_synonym: Viral hepatitis C
has_exact_synonym: chronic hepatitis C
has_obo_namespace: disease_ontology
id: DOID:1883
has_exact_synonym: hepatitis C infection
has_exact_synonym: hepatitis nonA nonB
in_subset: NCIthesaurus
imported from: doid.owl

viral hepatitis
type: Class
subclass of: hepatitis
subclass of: viral infectious disease
has_obo_namespace: disease_ontology
has_alternative_id: DOID:1885
id: DOID:1884
definition: A hepatitis that involves viral infection causing inflammation of the liver.
database_cross_reference: MESH:D006524
has_alternative_id: DOID:1331
database_cross_reference: UMLS_CUI:C0019194
has_alternative_id: DOID:12548
has_exact_synonym: Viral hepatitis with hepatic coma
has_exact_synonym: animal viral hepatitis
has_exact_synonym: human viral hepatitis
imported from: doid.owl

optic nerve disease
type: Class
subclass of: cranial nerve disease
database_cross_reference: UMLS_CUI:C0029132
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:77157004
database_cross_reference: MESH:D009901
id: DOID:1891
database_cross_reference: NCI:C79698
definition: A cranial nerve disease that is located_in the optic nerve.
has_exact_synonym: disorder of the second nerve
has_exact_synonym: optic nerve disorder
has_exact_synonym: optic neuropathy
in_subset: NCIthesaurus
imported from: doid.owl

malignant fibrous histiocytoma
type: Class
subclass of: sarcoma
database_cross_reference: MESH:D051677
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0334463
has_exact_synonym: Fibroxanthosarcoma
database_cross_reference: NCI:C4247
id: DOID:1907
database_cross_reference: SNOMEDCT_US_2020_03_01:34360000
has_exact_synonym: MFH
in_subset: NCIthesaurus
imported from: doid.owl

melanoma
type: Class
subclass of: cell type cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:2092003
definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.
database_cross_reference: MESH:D008545
database_cross_reference: NCI:C3224
id: DOID:1909
database_cross_reference: KEGG:05218
database_cross_reference: EFO:0000756
has_exact_synonym: Naevocarcinoma
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0025202
has_exact_synonym: malignant melanoma
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

endodermal sinus tumor
type: Class
subclass of: germ cell cancer
database_cross_reference: NCI:C3011
database_cross_reference: UMLS_CUI:C0014145
id: DOID:1911
has_exact_synonym: Hepatoid yolk sac tumour
database_cross_reference: SNOMEDCT_US_2020_03_01:74409009
has_exact_synonym: Yolk Sac neoplasm
has_exact_synonym: Yolk sac tumor
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018240
definition: A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
has_exact_synonym: Yolk sac tumour
has_exact_synonym: endodermal sinus tumour
has_exact_synonym: infantile embryonal carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

Lesch-Nyhan syndrome
type: Class
subclass of: X-linked recessive disease
subclass of: purine-pyrimidine metabolic disorder
id: DOID:1919
has_exact_synonym: HG-PRT deficiency
has_exact_synonym: Lesch - Nyhan syndrome
database_cross_reference: UMLS_CUI:C0023374
database_cross_reference: NCI:C61255
database_cross_reference: SNOMEDCT_US_2020_03_01:190918000
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E79.1
database_cross_reference: MESH:D007926
database_cross_reference: OMIM:300322
has_exact_synonym: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Hypoxanthine-guanine phosphoribosyltransferase deficiency
has_exact_synonym: Hypoxanthine-guanine-phosphoribosyltransferase deficiency
has_exact_synonym: X-linked hyperuricemia
has_exact_synonym: deficiency of IMP pyrophosphorylase
has_exact_synonym: hypoxanthine guanine phosphoribosyltransferase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

sex cord-gonadal stromal tumor
type: Class
subclass of: reproductive organ cancer
database_cross_reference: MESH:D018312
has_obo_namespace: disease_ontology
has_alternative_id: DOID:12293
database_cross_reference: NCI:C3794
id: DOID:192
database_cross_reference: SNOMEDCT_US_2020_03_01:253028001
definition: A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts.
has_exact_synonym: Sex Cord-Stromal neoplasm
has_exact_synonym: Sex cord stromal tumour
has_exact_synonym: Specialized gonadal neoplasm
has_exact_synonym: Specialized gonadal tumor
has_exact_synonym: Specialized gonadal tumour
database_cross_reference: UMLS_CUI:C0206724
has_exact_synonym: sex cord-gonadal stromal tumour
in_subset: NCIthesaurus
imported from: doid.owl

hyperuricemia
type: Class
subclass of: acquired metabolic disease
database_cross_reference: SNOMEDCT_US_2020_03_01:271198001
id: DOID:1920
definition: An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
has_exact_synonym: Blood urate raized
database_cross_reference: NCI:C3961
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0740394
database_cross_reference: MESH:D033461
has_exact_synonym: uricacidemia
in_subset: NCIthesaurus
imported from: doid.owl

Klinefelter syndrome
type: Class
subclass of: chromosomal duplication syndrome
database_cross_reference: ICD10CM:Q98.0
definition: A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34752
id: DOID:1921
database_cross_reference: UMLS_CUI:C0022735
database_cross_reference: SNOMEDCT_US_2020_03_01:405770005
has_exact_synonym: 47, XXY
database_cross_reference: MESH:D007713
database_cross_reference: ICD9CM:758.7
database_cross_reference: GARD:8705
has_exact_synonym: Hypogonadotropic Hypogonadism
has_exact_synonym: Klinefelter's syndrome
comment: No OMIM mapping, confirmed by DO. [LS].
has_exact_synonym: XXY syndrome
has_exact_synonym: XXY trisomy
in_subset: NCIthesaurus
imported from: doid.owl

disorder of sexual development
type: Class
subclass of: gonadal disease
database_cross_reference: MESH:D012734
database_cross_reference: UMLS_CUI:C0036875
definition: A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.
has_exact_synonym: sex development disorder
id: DOID:1923
has_obo_namespace: disease_ontology
has_exact_synonym: sex differentiation disease
imported from: doid.owl

hypogonadism
type: Class
subclass of: gonadal disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007006
database_cross_reference: NCI:C9227
database_cross_reference: OMIM:241100
definition: A gonadal disease that is characterized by diminished functional activity of the gonads.
database_cross_reference: SNOMEDCT_US_2020_03_01:48130008
id: DOID:1924
database_cross_reference: OMIM:312300
database_cross_reference: UMLS_CUI:C0020619
in_subset: NCIthesaurus
imported from: doid.owl

Coffin-Siris syndrome
type: Class
subclass of: autosomal dominant non-syndromic intellectual disability
subclass of: syndrome
id: DOID:1925
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6124
database_cross_reference: UMLS_CUI:C0265338
definition: An autosomal dominant non-syndromic intellectual disability that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.
has_exact_synonym: Dwarfism-Onychodysplasia
database_cross_reference: NCI:C35321
has_exact_synonym: Fifth Digit Syndrome
database_cross_reference: OMIM:PS135900
database_cross_reference: ORDO:1465
database_cross_reference: MESH:C536436
database_cross_reference: SNOMEDCT_US_2020_03_01:10007009
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Short Stature-Onychodysplasia.
in_subset: NCIthesaurus
imported from: doid.owl

Gaucher's disease
type: Class
subclass of: sphingolipidosis
database_cross_reference: GARD:8233
database_cross_reference: ORDO:355
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C61268
id: DOID:1926
database_cross_reference: UMLS_CUI:C0017205
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D005776
database_cross_reference: SNOMEDCT_US_2020_03_01:190794006
definition: A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
has_exact_synonym: Gaucher disease
database_cross_reference: ICD10CM:E75.22
has_exact_synonym: acid beta-glucosidase deficiency
has_exact_synonym: glocucerebrosidase deficiency
has_exact_synonym: glucosylceramide beta-glucosidase deficiency
has_exact_synonym: kerasin thesaurismosis
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

sphingolipidosis
type: Class
subclass of: lipid storage disease
database_cross_reference: ICD10CM:E75.3
database_cross_reference: UMLS_CUI:C0037899
database_cross_reference: NCI:C117254
database_cross_reference: MESH:D013106
id: DOID:1927
definition: A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:58459009
database_cross_reference: GARD:7672
has_exact_synonym: Sphingolipidosis
has_exact_synonym: sphingolipidoses
in_subset: NCIthesaurus
imported from: doid.owl

Williams-Beuren syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: syndrome
comment: OMIM mapping confirmed by DO. [LS].
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:Q93.82
database_cross_reference: SNOMEDCT_US_2020_03_01:63247009
database_cross_reference: NCI:C85232
database_cross_reference: OMIM:194050
id: DOID:1928
has_exact_synonym: Fanconi Schlesinger syndrome
database_cross_reference: MESH:D018980
database_cross_reference: UMLS_CUI:C0175702
definition: A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

supravalvular aortic stenosis
type: Class
subclass of: aortic valve stenosis
database_cross_reference: GARD:743
database_cross_reference: OMIM:185500
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C85176
database_cross_reference: SNOMEDCT_US_2020_03_01:204436002
database_cross_reference: UMLS_CUI:C0003499
database_cross_reference: ICD10CM:Q25.3
database_cross_reference: MESH:D021921
definition: An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.
id: DOID:1929
has_exact_synonym: Supra-valvular aortic stenosis
in_subset: NCIthesaurus
imported from: doid.owl

reproductive organ cancer
type: Class
subclass of: organ system cancer
subclass of: reproductive system disease
database_cross_reference: UMLS_CUI:C0178830
id: DOID:193
has_alternative_id: DOID:1900
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3674
definition: An organ system cancer that is manifested in the reproductive organs.
has_exact_synonym: Reproductive tumor
has_related_synonym: cancer of reproductive system
has_exact_synonym: malignant reproductive system neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

Laurence-Moon syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: MESH:D007849
database_cross_reference: SNOMEDCT_US_2020_03_01:232059000
database_cross_reference: GARD:12635
id: DOID:1930
has_exact_synonym: LNMS
has_obo_namespace: disease_ontology
database_cross_reference: MEDDRA:10056710
database_cross_reference: OMIM:245800
database_cross_reference: UMLS_CUI:C0023138
definition: A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on chromosome 19p13.2.
comment: OMIM mapping confirmed by DO. [SN].
has_related_synonym: Laurence-Moon-Biedl syndrome
database_cross_reference: ORDO:2377
database_cross_reference: NCI:C34760
in_subset: NCIthesaurus
imported from: doid.owl

Angelman syndrome
type: Class
subclass of: syndrome
database_cross_reference: OMIM:105830
definition: A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
database_cross_reference: MESH:D017204
has_obo_namespace: disease_ontology
id: DOID:1932
database_cross_reference: GARD:5810
database_cross_reference: NCI:C75462
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q93.51
database_cross_reference: UMLS_CUI:C0162635
database_cross_reference: SNOMEDCT_US_2020_03_01:76880004
has_exact_synonym: happy puppet syndrome
has_exact_synonym: puppetlike syndrome
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Rubinstein-Taybi syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: chromosomal deletion syndrome
subclass of: syndrome
database_cross_reference: OMIM:180849
has_exact_synonym: Broad Thumb-Hallux syndrome
database_cross_reference: ICD10CM:Q87.2
database_cross_reference: OMIM:610543
definition: A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
database_cross_reference: UMLS_CUI:C0035934
database_cross_reference: OMIM:613684
database_cross_reference: SNOMEDCT_US_2020_03_01:157032007
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D012415
id: DOID:1933
database_cross_reference: NCI:C75466
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:783
database_cross_reference: GARD:7593
has_exact_synonym: Rubinstein syndrome
has_exact_synonym: proximal chromosome 16p13.3 deletion syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

dysostosis
type: Class
subclass of: bone development disease
database_cross_reference: SNOMEDCT_US_2020_03_01:109420003
database_cross_reference: MESH:D004413
definition: A bone development disease that results in defective ossification of located in bone.
database_cross_reference: NCI:C34560
has_obo_namespace: disease_ontology
id: DOID:1934
database_cross_reference: UMLS_CUI:C0013393
in_subset: NCIthesaurus
imported from: doid.owl

Bardet-Biedl syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: NCI:C118632
has_obo_namespace: disease_ontology
definition: A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
database_cross_reference: ORDO:110
database_cross_reference: UMLS_CUI:C0752166
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q87.89
database_cross_reference: MESH:D020788
database_cross_reference: OMIM:PS209900
database_cross_reference: SNOMEDCT_US_2020_03_01:5619004
id: DOID:1935
database_cross_reference: GARD:6866
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

atherosclerosis
type: Class
subclass of: arteriosclerotic cardiovascular disease
database_cross_reference: UMLS_CUI:C0004153
database_cross_reference: NCI:C35768
database_cross_reference: EFO:0003914
id: DOID:1936
database_cross_reference: SNOMEDCT_US_2020_03_01:155414001
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:I70
database_cross_reference: ICD9CM:440
database_cross_reference: MESH:D050197
in_subset: NCIthesaurus
imported from: doid.owl

trichomoniasis
type: Class
subclass of: parasitic protozoa infectious disease
database_cross_reference: NCI:C35720
has_alternative_id: DOID:10996
database_cross_reference: MESH:D014245
id: DOID:1947
database_cross_reference: SNOMEDCT_US_2020_03_01:56335008
has_obo_namespace: disease_ontology
definition: A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively.
database_cross_reference: ICD10CM:A59
database_cross_reference: ICD9CM:131
database_cross_reference: UMLS_CUI:C0040921
has_related_synonym: trichomonas infection
in_subset: NCIthesaurus
imported from: doid.owl

cholecystitis
type: Class
subclass of: cholangitis
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C34465
has_alternative_id: DOID:9438
database_cross_reference: GARD:30
has_alternative_id: DOID:2829
database_cross_reference: ICD10CM:K81
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:575.10
database_cross_reference: UMLS_CUI:C0008325
database_cross_reference: SNOMEDCT_US_2020_03_01:76581006
id: DOID:1949
has_alternative_id: DOID:1948
definition: A cholangitis that is characterized by an inflammation that is located in the gallbladder.
database_cross_reference: MESH:D002764
database_cross_reference: OMIM:600803
has_exact_synonym: acute and chronic cholecystitis
has_exact_synonym: acute cholecystitis
has_exact_synonym: acute on chronic cholecystitis
has_exact_synonym: chronic cholecystitis
in_subset: NCIthesaurus
imported from: doid.owl

fallopian tube disease
type: Class
subclass of: female reproductive system disease
database_cross_reference: NCI:C26771
definition: A female reproductive system disease that is located_in the fallopian tube.
database_cross_reference: MESH:D005184
database_cross_reference: SNOMEDCT_US_2020_03_01:128134005
database_cross_reference: UMLS_CUI:C0015556
id: DOID:1962
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

fallopian tube carcinoma
type: Class
subclass of: fallopian tube cancer
subclass of: carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:276870001
id: DOID:1963
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0238122
database_cross_reference: MESH:D005185
database_cross_reference: NCI:C3867
definition: A fallopian tube cancer that is located_in the fallopian tube.
has_exact_synonym: cancer of the fallopian tube
has_exact_synonym: carcinoma of fallopian tube
has_exact_synonym: fallopian tube Ca
in_subset: NCIthesaurus
imported from: doid.owl

fallopian tube cancer
type: Class
subclass of: female reproductive organ cancer
subclass of: fallopian tube disease
database_cross_reference: SNOMEDCT_US_2020_03_01:93794008
database_cross_reference: UMLS_CUI:C0015558
database_cross_reference: ICD10CM:C57.0
definition: A female reproductive organ cancer that is located_in fallopian tube.
database_cross_reference: SNOMEDCT_US_2020_03_01:126916003
database_cross_reference: UMLS_CUI:C0153579
database_cross_reference: NCI:C7480
database_cross_reference: MESH:D005185
id: DOID:1964
database_cross_reference: GARD:9162
database_cross_reference: NCI:C3032
has_alternative_id: DOID:1961
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:183.2
has_exact_synonym: fallopian tube neoplasm
has_exact_synonym: malignant neoplasm of uterine tube
has_exact_synonym: malignant tumor of fallopian tube
has_exact_synonym: malignant tumour of fallopian tube
has_exact_synonym: neoplasm of fallopian tube
has_exact_synonym: tumor of the fallopian tube
has_exact_synonym: tumor, fallopian tube, malignant
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

leiomyosarcoma
type: Class
subclass of: smooth muscle cancer
database_cross_reference: MESH:D007890
definition: A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
database_cross_reference: UMLS_CUI:C0023269
database_cross_reference: SNOMEDCT_US_2020_03_01:443719001
database_cross_reference: GARD:6880
has_obo_namespace: disease_ontology
id: DOID:1967
database_cross_reference: NCI:C3158
has_exact_synonym: Leiomyosarcomas
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

cerebral palsy
type: Class
subclass of: brain disease
database_cross_reference: SNOMEDCT_US_2020_03_01:155024003
id: DOID:1969
has_alternative_id: DOID:1968
database_cross_reference: MESH:D002547
database_cross_reference: NCI:C34460
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G80
definition: A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
database_cross_reference: UMLS_CUI:C0007789
has_exact_synonym: infantile cerebral palsy
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

adenosarcoma
type: Class
subclass of: carcinosarcoma
database_cross_reference: MESH:D018195
id: DOID:1974
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C9474
database_cross_reference: UMLS_CUI:C0001442
database_cross_reference: SNOMEDCT_US_2020_03_01:189804002
definition: A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
has_exact_synonym: Adenosarcoma
has_exact_synonym: mullerian Adenosarcoma
in_subset: NCIthesaurus
imported from: doid.owl

rectal benign neoplasm
type: Class
subclass of: intestinal benign neoplasm
database_cross_reference: NCI:C3350
database_cross_reference: UMLS_CUI:C0034885
database_cross_reference: SNOMEDCT_US_2020_03_01:126847008
database_cross_reference: MESH:D012004
has_obo_namespace: disease_ontology
id: DOID:1984
has_exact_synonym: Rectal tumor
has_exact_synonym: neoplasm of rectum
has_exact_synonym: rectum neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

rectum cancer
type: Class
subclass of: colorectal cancer
id: DOID:1993
database_cross_reference: ICD10CM:C20
database_cross_reference: ICD9CM:154.1
definition: A colorectal cancer that is located_in the rectum.
database_cross_reference: NCI:C9382
has_alternative_id: DOID:1989
database_cross_reference: SNOMEDCT_US_2020_03_01:254582000
database_cross_reference: MESH:D012004
database_cross_reference: UMLS_CUI:C0007113
database_cross_reference: SNOMEDCT_US_2020_03_01:93984006
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7418
database_cross_reference: UMLS_CUI:C0949022
has_related_synonym: cancer of rectum
has_exact_synonym: carcinoma of rectum
has_exact_synonym: carcinoma of the rectum
has_exact_synonym: malignant Rectal tumor
has_exact_synonym: malignant neoplasm of rectum
has_exact_synonym: malignant rectum tumor
has_exact_synonym: malignant tumor of rectum
has_exact_synonym: rectal cancer
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

rectum adenocarcinoma
type: Class
subclass of: rectum cancer
subclass of: adenocarcinoma
id: DOID:1996
definition: A rectum cancer that derives_from epithelial cells of glandular origin.
database_cross_reference: NCI:C9383
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:254582000
has_exact_synonym: Rectal adenocarcinoma
database_cross_reference: UMLS_CUI:C0149978
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

benign giant cell tumor
type: Class
subclass of: bone benign neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:443790001
database_cross_reference: UMLS_CUI:C0017525
database_cross_reference: MESH:D005870
database_cross_reference: NCI:C3055
id: DOID:200
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

neuroma
type: Class
subclass of: nervous system benign neoplasm
definition: A nervous system benign neoplasm that is characterized as a nerve tissue tumor.
database_cross_reference: NCI:C3275
id: DOID:2001
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D009463
database_cross_reference: SNOMEDCT_US_2020_03_01:25169009
database_cross_reference: UMLS_CUI:C0027858
in_subset: NCIthesaurus
imported from: doid.owl

preretinal fibrosis
type: Class
subclass of: degeneration of macula and posterior pole
id: DOID:2006
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:193391002
database_cross_reference: MESH:D019773
database_cross_reference: UMLS_CUI:C0339543
database_cross_reference: ICD9CM:362.56
has_exact_synonym: Macular puckering of retina
has_exact_synonym: Macular retinal puckering
has_exact_synonym: cellophane maculopathy
imported from: doid.owl

degeneration of macula and posterior pole
type: Class
subclass of: macular degeneration
database_cross_reference: ICD10CM:H35.3
database_cross_reference: SNOMEDCT_US_2020_03_01:193384000
database_cross_reference: ICD9CM:362.5
database_cross_reference: UMLS_CUI:C0339436
has_obo_namespace: disease_ontology
id: DOID:2007
has_exact_synonym: degeneration of macula and posterior pole of retina
has_exact_synonym: degeneration of macula or posterior pole
imported from: doid.owl

connective tissue cancer
type: Class
subclass of: musculoskeletal system cancer
subclass of: connective tissue disease
database_cross_reference: SNOMEDCT_US_2020_03_01:126598008
database_cross_reference: MESH:D009372
id: DOID:201
definition: A musculoskeletal system cancer that is located_in connective tissue.
has_obo_namespace: disease_ontology
has_exact_synonym: Tumour of connective tissue
database_cross_reference: UMLS_CUI:C0027656
has_exact_synonym: connective tissue neoplasm
has_exact_synonym: neoplasm of connective tissues
in_subset: TopNodes DOcancerslim
imported from: doid.owl

Nezelof syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: T cell deficiency
has_exact_synonym: TIDTA
database_cross_reference: ICD9CM:279.13
has_exact_synonym: T-cell immunodeficiency with thymic aplasia
id: DOID:2012
database_cross_reference: SNOMEDCT_US_2020_03_01:55602000
has_obo_namespace: disease_ontology
definition: A T cell deficiency that results from the disfunction or underdevelopment of the thymus.
database_cross_reference: ORDO:83471
has_exact_synonym: Nezelof's syndrome
database_cross_reference: OMIM:242700
database_cross_reference: UMLS_CUI:C0152094
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:D81.4
has_exact_synonym: thymic aplasia
has_exact_synonym: thymic dysplasia with normal immunoglobulins
imported from: doid.owl

hyperinsulinism
type: Class
subclass of: pancreas disease
subclass of: glucose metabolism disease
database_cross_reference: ICD10CM:E16.1
database_cross_reference: UMLS_CUI:C0020459
database_cross_reference: MESH:D006946
database_cross_reference: SNOMEDCT_US_2020_03_01:154694003
id: DOID:2018
has_obo_namespace: disease_ontology
has_exact_synonym: hyperinsulinemia
imported from: doid.owl

placenta cancer
type: Class
subclass of: uterine cancer
subclass of: placenta disease
database_cross_reference: ICD9CM:181
definition: A female reproductive organ cancer that is located_in the placenta.
id: DOID:2021
has_exact_synonym: Placental tumors
database_cross_reference: UMLS_CUI:C0153572
database_cross_reference: SNOMEDCT_US_2020_03_01:188187004
has_alternative_id: DOID:2023
database_cross_reference: ICD10CM:C58
database_cross_reference: NCI:C3555
has_obo_namespace: disease_ontology
has_exact_synonym: malignant Placental tumor
has_exact_synonym: malignant neoplasm of placenta
has_exact_synonym: neoplasm of placenta
has_exact_synonym: placental cancer
has_exact_synonym: primary malignant neoplasm of placenta
in_subset: NCIthesaurus
imported from: doid.owl

gestational choriocarcinoma
type: Class
subclass of: choriocarcinoma
database_cross_reference: UMLS_CUI:C0349557
definition: A choriocarcicoma that develops in the presence of a preceding gestational event.
id: DOID:2025
has_exact_synonym: Gestational chorionepithelioma
has_exact_synonym: Molar pregnancy with choriocarcinoma
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:1884006
database_cross_reference: NCI:C4646
has_exact_synonym: Gestational choriocarcinoma
in_subset: NCIthesaurus
imported from: doid.owl

exostosis
type: Class
subclass of: hyperostosis
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:M27.8
database_cross_reference: UMLS_CUI:C1442903
database_cross_reference: SNOMEDCT_US_2020_03_01:80400009
definition: A hyperostosis that involves formation of new bone on the surface of preexisting bone.
database_cross_reference: ICD9CM:726.91
database_cross_reference: MESH:D005096
id: DOID:203
database_cross_reference: NCI:C3029
has_exact_synonym: bone spur
has_exact_synonym: bony outgrowth
has_exact_synonym: orbital exostosis
has_exact_synonym: osteophyte
has_exact_synonym: swimmer's exostosis
in_subset: NCIthesaurus
imported from: doid.owl

anxiety disorder
type: Class
subclass of: cognitive disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:65673007
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D001008
has_alternative_id: DOID:12884
database_cross_reference: NCI:C2878
database_cross_reference: ICD10CM:F41.9
definition: A cognitive disorder that involves an excessive, irrational dread of everyday situations.
database_cross_reference: OMIM:607834
id: DOID:2030
database_cross_reference: UMLS_CUI:C0003469
has_exact_synonym: anxiety
has_exact_synonym: anxiety state
in_subset: NCIthesaurus
imported from: doid.owl

communication disorder
type: Class
subclass of: specific developmental disorder
definition: A specific developmental disorder that involves specific developmental disorders of speech and language.
database_cross_reference: SNOMEDCT_US_2020_03_01:74825008
database_cross_reference: MESH:D003147
id: DOID:2033
database_cross_reference: ICD10CM:F80.9
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2958
database_cross_reference: UMLS_CUI:C0009460
in_subset: NCIthesaurus
imported from: doid.owl

encephalomalacia
type: Class
subclass of: brain disease
database_cross_reference: MESH:D004678
id: DOID:2034
definition: A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system.
database_cross_reference: UMLS_CUI:C0014068
database_cross_reference: SNOMEDCT_US_2020_03_01:58762006
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C98920
in_subset: NCIthesaurus
imported from: doid.owl

enthesopathy
type: Class
subclass of: connective tissue disease
id: DOID:204
database_cross_reference: SNOMEDCT_US_2020_03_01:278525009
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:M77.9
database_cross_reference: MESH:D000070676
database_cross_reference: ICD9CM:726.90
definition: A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation.
database_cross_reference: UMLS_CUI:C0242490
imported from: doid.owl

hepatitis B
type: Class
subclass of: viral infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:66071002
database_cross_reference: UMLS_CUI:C0019163
database_cross_reference: NCI:C3097
definition: A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
id: DOID:2043
has_alternative_id: DOID:2042
has_alternative_id: DOID:12592
database_cross_reference: MESH:D006509
has_alternative_id: DOID:12591
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0004197
has_related_synonym: Serum hepatitis
has_exact_synonym: chronic hepatitis B
has_exact_synonym: hepatitis B infection
in_subset: NCIthesaurus
in_subset: sexually transmitted infectious disease
imported from: doid.owl

hepatitis D
type: Class
subclass of: viral infectious disease
database_cross_reference: UMLS_CUI:C0011226
definition: A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma.
database_cross_reference: SNOMEDCT_US_2020_03_01:424460009
id: DOID:2047
has_alternative_id: DOID:2046
database_cross_reference: MESH:D003699
has_exact_synonym: delta hepatitis
has_obo_namespace: disease_ontology
imported from: doid.owl

autoimmune hepatitis
type: Class
subclass of: autoimmune disease of gastrointestinal tract
database_cross_reference: GARD:5871
has_alternative_id: DOID:4745
database_cross_reference: UMLS_CUI:C0241910
has_obo_namespace: disease_ontology
id: DOID:2048
database_cross_reference: UMLS_CUI:C1332355
database_cross_reference: MESH:D019693
database_cross_reference: NCI:C27778
database_cross_reference: ICD9CM:571.42
has_exact_synonym: Autoimmune Hepatitis
database_cross_reference: SNOMEDCT_US_2020_03_01:16098491000119109
definition: An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.
has_exact_synonym: Autoimmune chronic active hepatitis
has_exact_synonym: Autoimmune hepatitis
has_exact_synonym: autoimmune hepatitis with centrilobular necrosis
in_subset: NCIthesaurus
imported from: doid.owl

hyperostosis
type: Class
subclass of: bone remodeling disease
database_cross_reference: NCI:C34712
id: DOID:205
definition: A bone remodeling disease that results in an abnormal growth of located in bone.
database_cross_reference: ICD10CM:M89.3
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:13814009
database_cross_reference: MESH:D015576
database_cross_reference: UMLS_CUI:C0020492
has_exact_synonym: bone hypertrophy
has_exact_synonym: hypertrophy of bone
in_subset: NCIthesaurus
imported from: doid.owl

acute maxillary sinusitis
type: Class
subclass of: maxillary sinusitis
definition: A maxillary sinusitis which lasts for less than 4 weeks.
id: DOID:2050
database_cross_reference: UMLS_CUI:C0155804
database_cross_reference: SNOMEDCT_US_2020_03_01:155499007
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:461.0
database_cross_reference: ICD10CM:J01.0
has_exact_synonym: acute antritis
imported from: doid.owl

maxillary sinusitis
type: Class
subclass of: sinusitis
database_cross_reference: UMLS_CUI:C0024959
database_cross_reference: SNOMEDCT_US_2020_03_01:275484005
id: DOID:2051
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:J32.0
database_cross_reference: MESH:D015523
definition: A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.
database_cross_reference: NCI:C34809
in_subset: NCIthesaurus
imported from: doid.owl

post-traumatic stress disorder
type: Class
subclass of: anxiety disorder
definition: An anxiety disorder which results from a traumatic experience that results in psychological trauma.
database_cross_reference: NCI:C3389
id: DOID:2055
database_cross_reference: ICD10CM:F43.1
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0038436
database_cross_reference: ICD9CM:309.81
has_exact_synonym: PTSD
database_cross_reference: SNOMEDCT_US_2020_03_01:192415000
database_cross_reference: MESH:D013313
has_related_synonym: post-traumatic stress disorder
has_exact_synonym: traumatic neurosis
in_subset: NCIthesaurus
imported from: doid.owl

chronic mucocutaneous candidiasis
type: Class
subclass of: candidiasis
subclass of: skin disease
subclass of: nail disease
database_cross_reference: OMIM:613108
database_cross_reference: OMIM:615527
database_cross_reference: SNOMEDCT_US_2020_03_01:234568006
database_cross_reference: OMIM:114580
definition: A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.
database_cross_reference: OMIM:607644
id: DOID:2058
database_cross_reference: ORDO:1334
database_cross_reference: NCI:C34444
database_cross_reference: OMIM:613956
database_cross_reference: GARD:12313
has_alternative_id: DOID:2056
database_cross_reference: OMIM:212050
database_cross_reference: UMLS_CUI:C0006845
database_cross_reference: MESH:D002178
database_cross_reference: OMIM:614162
has_exact_synonym: chronic Mucocutaneous Candidiasis
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:616445
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

vulvar disease
type: Class
subclass of: female reproductive system disease
database_cross_reference: MESH:D014845
database_cross_reference: UMLS_CUI:C0042994
database_cross_reference: SNOMEDCT_US_2020_03_01:5089007
has_obo_namespace: disease_ontology
id: DOID:2059
definition: A female reproductive system disease that is located_in the vulva.
database_cross_reference: NCI:C27631
in_subset: NCIthesaurus
imported from: doid.owl

nodular hidradenoma
type: Class
subclass of: hidradenoma
has_obo_namespace: disease_ontology
id: DOID:2061
has_related_synonym: Eccrine nodular hidradenoma
has_related_synonym: nodular hidradenoma
imported from: doid.owl

syringoma
type: Class
subclass of: sweat gland benign neoplasm
database_cross_reference: OMIM:186600
database_cross_reference: SNOMEDCT_US_2020_03_01:189051001
database_cross_reference: GARD:10547
id: DOID:2065
database_cross_reference: NCI:C3761
database_cross_reference: MESH:D018252
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0206673
in_subset: NCIthesaurus
imported from: doid.owl

intestinal perforation
type: Class
subclass of: intestinal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:56905009
database_cross_reference: MESH:D007416
database_cross_reference: UMLS_CUI:C0021845
id: DOID:2074
database_cross_reference: NCI:C39611
has_exact_synonym: Perforation of intestine
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:569.83
in_subset: NCIthesaurus
imported from: doid.owl

constipation
type: Class
subclass of: bowel dysfunction
database_cross_reference: ICD10CM:K59.0
database_cross_reference: MESH:D003248
database_cross_reference: UMLS_CUI:C0009806
id: DOID:2089
definition: A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces.
database_cross_reference: NCI:C37930
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:564.0
database_cross_reference: SNOMEDCT_US_2020_03_01:363693003
in_subset: NCIthesaurus
imported from: doid.owl

transient arthritis
type: Class
subclass of: arthropathy
database_cross_reference: ICD10CM:M12.8
database_cross_reference: ICD9CM:716.4
database_cross_reference: UMLS_CUI:C0152083
id: DOID:2092
database_cross_reference: NCI:C35761
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:66191007
in_subset: NCIthesaurus
imported from: doid.owl

vulvar melanoma
type: Class
subclass of: vulva cancer
has_obo_namespace: disease_ontology
definition: A vulva cancer that has_material_basis in melanocytes.
id: DOID:2093
database_cross_reference: UMLS_CUI:C0241989
database_cross_reference: NCI:C40329
database_cross_reference: SNOMEDCT_US_2020_03_01:254896002
has_exact_synonym: malignant melanoma of vulva
in_subset: NCIthesaurus
imported from: doid.owl

sweat gland cancer
type: Class
subclass of: sweat gland disease
subclass of: skin cancer
database_cross_reference: ICD10CM:C44
database_cross_reference: UMLS_CUI:C1321904
database_cross_reference: NCI:C4810
has_obo_namespace: disease_ontology
id: DOID:2095
database_cross_reference: SNOMEDCT_US_2020_03_01:255095005
has_exact_synonym: malignant neoplasm of sweat gland
has_exact_synonym: malignant tumor of the Sweat gland
in_subset: NCIthesaurus
imported from: doid.owl

vulval Paget's disease
type: Class
subclass of: vulva adenocarcinoma
has_obo_namespace: disease_ontology
id: DOID:2097
definition: A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features.
database_cross_reference: UMLS_CUI:C1275217
database_cross_reference: NCI:C4027
has_exact_synonym: Paget's disease of vulva
database_cross_reference: SNOMEDCT_US_2020_03_01:254898001
has_exact_synonym: Vulval Paget's disease
has_exact_synonym: Vulvar Paget's disease
has_exact_synonym: vulval Paget disease
in_subset: NCIthesaurus
imported from: doid.owl

vulva adenocarcinoma
type: Class
subclass of: vulva carcinoma
subclass of: adenocarcinoma
definition: A vulva carcinoma that derives_from epithelial cells of glandular origin.
database_cross_reference: NCI:C6380
has_obo_namespace: disease_ontology
id: DOID:2098
database_cross_reference: UMLS_CUI:C1336975
has_exact_synonym: adenocarcinoma of Vulva
has_related_synonym: adenocarcinoma of the vulva
in_subset: NCIthesaurus
imported from: doid.owl

myotonia congenita
type: Class
subclass of: muscle tissue disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:614
database_cross_reference: ICD9CM:359.22
database_cross_reference: OMIM:160800
database_cross_reference: OMIM:255700
database_cross_reference: NCI:C84912
has_obo_namespace: disease_ontology
id: DOID:2106
has_exact_synonym: Congenital myotonia, autosomal dominant form
database_cross_reference: GARD:12301
database_cross_reference: UMLS_CUI:C0027127
database_cross_reference: MESH:D009224
definition: A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
has_exact_synonym: Thomsen disease
has_exact_synonym: Thomsen's disease
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

cystoisosporiasis
type: Class
subclass of: coccidiosis
database_cross_reference: UMLS_CUI:C0311386
database_cross_reference: NCI:C4076
id: DOID:2112
definition: A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A07.3
database_cross_reference: MESH:D021865
has_alternative_id: DOID:4891
has_exact_synonym: Infection by Isospora belli and Isospora hominis
has_exact_synonym: Isosporosis
database_cross_reference: SNOMEDCT_US_2020_03_01:73034009
has_exact_synonym: isosporiasis
in_subset: NCIthesaurus
imported from: doid.owl

coccidiosis
type: Class
subclass of: parasitic protozoa infectious disease
database_cross_reference: MESH:D003048
has_exact_synonym: Coccidiosis
id: DOID:2113
database_cross_reference: UMLS_CUI:C0009187
database_cross_reference: SNOMEDCT_US_2020_03_01:186125004
database_cross_reference: NCI:C34493
definition: A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.
has_obo_namespace: disease_ontology
has_related_synonym: intestinal coccidiosis
in_subset: NCIthesaurus
imported from: doid.owl

B cell deficiency
type: Class
subclass of: primary immunodeficiency disease
has_obo_namespace: disease_ontology
definition: A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.
database_cross_reference: ICD9CM:279.03
has_alternative_id: DOID:6026
database_cross_reference: UMLS_CUI:C0154276
has_exact_synonym: B cell (antibody) deficiencies
database_cross_reference: SNOMEDCT_US_2020_03_01:190982008
id: DOID:2115
has_exact_synonym: Immunoglobulin heavy chain deficiency
has_exact_synonym: immunoglobulin heavy chain deletion
imported from: doid.owl

focal dermal hypoplasia
type: Class
subclass of: X-linked dominant disease
subclass of: syndrome
database_cross_reference: OMIM:305600
database_cross_reference: MESH:D005489
database_cross_reference: UMLS_CUI:C0016395
database_cross_reference: SNOMEDCT_US_2020_03_01:205573006
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:6457
definition: A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
database_cross_reference: NCI:C84715
has_exact_synonym: FDH
has_exact_synonym: FODH
has_exact_synonym: Goltz syndrome
has_exact_synonym: Goltz-Gorlin syndrome
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:2092
id: DOID:2120
in_subset: NCIthesaurus
imported from: doid.owl

ectodermal dysplasia
type: Class
subclass of: syndrome
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:757.31
database_cross_reference: UMLS_CUI:C0013575
database_cross_reference: SNOMEDCT_US_2020_03_01:8654005
database_cross_reference: ORDO:79373
database_cross_reference: GARD:6317
database_cross_reference: MESH:D004476
database_cross_reference: OMIM:PS305100
database_cross_reference: NCI:C84683
definition: A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
has_exact_synonym: Congenital ectodermal defect
has_exact_synonym: Congenital ectodermal dysplasia
id: DOID:2121
imported from: doid.owl

tularemia
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: ICD9CM:021.8
database_cross_reference: UMLS_CUI:C0029835
definition: A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues.
id: DOID:2123
has_obo_namespace: disease_ontology
database_cross_reference: GARD:396
database_cross_reference: SNOMEDCT_US_2020_03_01:186298002
in_subset: gram-negative bacterial infectious disease
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

atypical teratoid rhabdoid tumor
type: Class
subclass of: brain cancer
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:2129
database_cross_reference: NCI:C6906
database_cross_reference: UMLS_CUI:C1266184
database_cross_reference: OMIM:609322
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:99966
definition: A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
has_related_synonym: AT/RT
has_exact_synonym: Atypical teratoid/rhabdoid tumor
has_exact_synonym: Atypical teratoid/rhabdoid tumour
has_exact_synonym: Rhabdoid tumor of the CNS
has_exact_synonym: Rhabdoid tumour of the CNS
database_cross_reference: SNOMEDCT_US_2020_03_01:128792003
has_exact_synonym: atypical teratoid rhabdoid tumour
has_related_synonym: rhabdoid tumor predisposition syndrome
in_subset: DO FlyBase slim
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

teeth hard tissue disease
type: Class
subclass of: tooth disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029770
database_cross_reference: ICD10CM:K03.8
database_cross_reference: SNOMEDCT_US_2020_03_01:197505001
database_cross_reference: ICD9CM:521.8
id: DOID:214
imported from: doid.owl

urogenital tuberculosis
type: Class
subclass of: extrapulmonary tuberculosis
database_cross_reference: UMLS_CUI:C0041333
has_obo_namespace: disease_ontology
id: DOID:2149
has_related_synonym: Genitourinary tuberculosis
database_cross_reference: SNOMEDCT_US_2020_03_01:4445009
database_cross_reference: ICD10CM:A18.1
definition: An extrapulmonary tuberculosis that is located_in urogenital system.
database_cross_reference: MESH:D014401
database_cross_reference: ICD9CM:016
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

malignant ovarian surface epithelial-stromal neoplasm
type: Class
subclass of: ovary epithelial cancer
id: DOID:2151
definition: An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1518236
database_cross_reference: NCI:C40026
in_subset: NCIthesaurus
imported from: doid.owl

ovary epithelial cancer
type: Class
subclass of: ovarian cancer
subclass of: carcinoma
definition: An ovarian cancer that is derives_from ovarian surface epithelium.
database_cross_reference: SNOMEDCT_US_2020_03_01:237057005
database_cross_reference: UMLS_CUI:C0341823
has_obo_namespace: disease_ontology
id: DOID:2152
database_cross_reference: NCI:C4381
has_exact_synonym: Ovarian Surface epithelial-Stromal tumor
in_subset: NCIthesaurus
imported from: doid.owl

nephroblastoma
type: Class
subclass of: kidney cancer
database_cross_reference: UMLS_CUI:C1333015
has_obo_namespace: disease_ontology
id: DOID:2154
database_cross_reference: NCI:C27730
database_cross_reference: UMLS_CUI:C1332219
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICDO:M8960/3
has_alternative_id: DOID:5177
database_cross_reference: SNOMEDCT_US_2020_03_01:25081006
database_cross_reference: OMIM:194070
database_cross_reference: NCI:C6180
has_alternative_id: DOID:5180
definition: A kidney cancer that affects the kidneys and typically located_in children.
database_cross_reference: MESH:D009396
database_cross_reference: UMLS_CUI:C0027708
database_cross_reference: NCI:C3267
has_related_synonym: Wilms' tumor
has_exact_synonym: adult nephroblastoma
in_subset: NCIthesaurus
imported from: doid.owl

ovarian germ cell cancer
type: Class
subclass of: ovarian cancer
database_cross_reference: GARD:9330
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:237059008
database_cross_reference: NCI:C3873
id: DOID:2156
definition: An ovarian cancer that originates in the germ (egg) cells of the ovary.
database_cross_reference: UMLS_CUI:C0238324
database_cross_reference: OMIM:603737
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: germ cell neoplasm of Ovary
has_exact_synonym: germ cell tumor of ovary
has_related_synonym: ovarian germ cell tumor
in_subset: NCIthesaurus
imported from: doid.owl

dental caries
type: Class
subclass of: teeth hard tissue disease
database_cross_reference: UMLS_CUI:C1456145
has_alternative_id: DOID:11913
has_alternative_id: DOID:10785
has_exact_synonym: Dental caries of smooth surface
database_cross_reference: UMLS_CUI:C0011334
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:521.07
database_cross_reference: EFO:0003819
id: DOID:216
has_exact_synonym: Dental caries pit and fissure
database_cross_reference: SNOMEDCT_US_2020_03_01:155632007
database_cross_reference: ICD9CM:521.0
database_cross_reference: ICD10CM:K02.6
has_alternative_id: DOID:10870
database_cross_reference: NCI:C52593
database_cross_reference: ICD10CM:K02
definition: A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel.
database_cross_reference: MESH:D003731
has_exact_synonym: Dental caries extending into pulp
in_subset: NCIthesaurus
imported from: doid.owl

nasal cavity disease
type: Class
subclass of: nose disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:232340005
database_cross_reference: NCI:C27102
id: DOID:2163
has_alternative_id: DOID:4728
database_cross_reference: UMLS_CUI:C0339820
in_subset: NCIthesaurus
imported from: doid.owl

enamel caries
type: Class
subclass of: dental caries
database_cross_reference: ICD9CM:521.01
id: DOID:217
has_exact_synonym: Dental caries limited to enamel
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0266853
database_cross_reference: SNOMEDCT_US_2020_03_01:80353004
has_exact_synonym: primary dental caries
has_exact_synonym: simple dental cavity
imported from: doid.owl

vaginitis
type: Class
subclass of: vaginal disease
id: DOID:2170
database_cross_reference: SNOMEDCT_US_2020_03_01:198212006
database_cross_reference: MESH:D014627
has_alternative_id: DOID:10769
database_cross_reference: SNOMEDCT_US_2020_03_01:393596009
database_cross_reference: ICD9CM:616.1
has_obo_namespace: disease_ontology
definition: A vaginal disease that is characterized by inflammation of the vagina.
database_cross_reference: UMLS_CUI:C0042267
database_cross_reference: UMLS_CUI:C0042268
database_cross_reference: NCI:C26911
in_subset: NCIthesaurus
imported from: doid.owl

ocular cancer
type: Class
subclass of: sensory system cancer
subclass of: eye disease
database_cross_reference: UMLS_CUI:C0153632
database_cross_reference: ICD9CM:190.8
database_cross_reference: SNOMEDCT_US_2020_03_01:188277006
database_cross_reference: UMLS_CUI:C0015414
has_alternative_id: DOID:9985
has_obo_namespace: disease_ontology
id: DOID:2174
database_cross_reference: SNOMEDCT_US_2020_03_01:126995000
database_cross_reference: NCI:C3030
database_cross_reference: MESH:D005134
definition: A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
has_exact_synonym: Ocular tumor
has_exact_synonym: eye neoplasm
has_exact_synonym: malignant eye neoplasm
has_exact_synonym: neoplasm of eye
has_exact_synonym: neoplasm of eye proper
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

ascending colon cancer
type: Class
subclass of: colon cancer
database_cross_reference: ICD10CM:C18.2
database_cross_reference: ICD9CM:153.6
id: DOID:218
has_obo_namespace: disease_ontology
has_exact_synonym: Ca ascending colon
database_cross_reference: UMLS_CUI:C0153439
database_cross_reference: SNOMEDCT_US_2020_03_01:93683002
has_exact_synonym: malignant neoplasm of right colon
has_exact_synonym: malignant tumor of ascending colon
imported from: doid.owl

amelogenesis imperfecta
type: Class
subclass of: dental enamel hypoplasia
database_cross_reference: MESH:D000567
id: DOID:2187
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0002452
database_cross_reference: ORDO:88661
definition: A dental enamel hypoplasia characterized by abnormal enamel formation.
database_cross_reference: GARD:5791
comment: Xref MGI.
database_cross_reference: ICD10CM:K00.5
database_cross_reference: SNOMEDCT_US_2020_03_01:78494001
database_cross_reference: OMIM:PS104500
in_subset: DO rare slim
imported from: doid.owl

colon cancer
type: Class
subclass of: colonic disease
subclass of: colorectal cancer
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:363406005
database_cross_reference: ICD9CM:153
database_cross_reference: MESH:D003110
database_cross_reference: NCI:C9242
database_cross_reference: UMLS_CUI:C0007102
definition: A colorectal cancer that is located_in the colon.
id: DOID:219
database_cross_reference: ICD10CM:C18
in_subset: DO cancer slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

factor XIII deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: blood coagulation disease
database_cross_reference: UMLS_CUI:C0015530
id: DOID:2211
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:10766
has_exact_synonym: Factor XIII deficiency disease
has_exact_synonym: Hereditary factor XIII deficiency disease
database_cross_reference: MESH:D005177
database_cross_reference: NCI:C98941
database_cross_reference: OMIM:613235
definition: A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.
has_exact_synonym: deficiency, Laki-Lorand factor
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:613225
database_cross_reference: SNOMEDCT_US_2020_03_01:50189006
in_subset: NCIthesaurus
imported from: doid.owl

hemorrhagic disease
type: Class
subclass of: blood coagulation disease
database_cross_reference: ICD9CM:287.9
has_obo_namespace: disease_ontology
id: DOID:2213
has_exact_synonym: Hemorrhagic diathesis
database_cross_reference: ICD10CM:D69.9
has_exact_synonym: Hemorrhagic disease
database_cross_reference: SNOMEDCT_US_2020_03_01:268884000
database_cross_reference: UMLS_CUI:C0019087
database_cross_reference: MESH:D006474
imported from: doid.owl

factor VII deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: blood coagulation disease
database_cross_reference: MESH:D005168
database_cross_reference: SNOMEDCT_US_2020_03_01:154820003
definition: A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.
database_cross_reference: GARD:2238
database_cross_reference: UMLS_CUI:C0015503
id: DOID:2215
has_exact_synonym: Factor VII deficiency
database_cross_reference: ICD10CM:D68.2
database_cross_reference: NCI:C131631
has_exact_synonym: deficiency, stable
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

factor V deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: blood coagulation disease
database_cross_reference: UMLS_CUI:C0015499
id: DOID:2216
database_cross_reference: OMIM:227400
has_obo_namespace: disease_ontology
database_cross_reference: GARD:2237
database_cross_reference: MESH:D005166
database_cross_reference: ICD10CM:D68.2
has_exact_synonym: Hereditary hypoproaccelerinaemia
database_cross_reference: SNOMEDCT_US_2020_03_01:191284007
database_cross_reference: NCI:C98938
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Labile factor deficiency
has_exact_synonym: Proaccelerin deficiency
has_exact_synonym: deficiency, labile
in_subset: NCIthesaurus
imported from: doid.owl

Bernard-Soulier syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: blood coagulation disease
database_cross_reference: MESH:D001606
id: DOID:2217
has_exact_synonym: Giant platelet syndrome
database_cross_reference: NCI:C84595
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:274
has_exact_synonym: Hemorrhagic dystrophic thrombocytopenia
database_cross_reference: SNOMEDCT_US_2020_03_01:54569005
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:231200
database_cross_reference: UMLS_CUI:C0005129
definition: A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
has_exact_synonym: Bernard - Soulier thrombopathy
has_exact_synonym: Bernard Soulier syndrome
has_exact_synonym: Thrombopathy, Bernard-Soulier
in_subset: NCIthesaurus
imported from: doid.owl

blood platelet disease
type: Class
subclass of: blood coagulation disease
definition: A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C131634
id: DOID:2218
database_cross_reference: SNOMEDCT_US_2020_03_01:22716005
has_exact_synonym: Thrombocytopathy
database_cross_reference: UMLS_CUI:C0005818
database_cross_reference: MESH:D001791
has_exact_synonym: platelet disorder
imported from: doid.owl

Glanzmann's thrombasthenia
type: Class
subclass of: blood platelet disease
database_cross_reference: MESH:D013915
database_cross_reference: NCI:C61249
database_cross_reference: GARD:2478
database_cross_reference: SNOMEDCT_US_2020_03_01:32942005
id: DOID:2219
definition: A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: ICD10CM:D69.1
database_cross_reference: UMLS_CUI:C0040015
database_cross_reference: OMIM:273800
database_cross_reference: ORDO:849
has_obo_namespace: disease_ontology
has_exact_synonym: BDPLT2
has_exact_synonym: Glanzmann thrombasthenia
has_exact_synonym: Glycoprotein IIb/IIIa defect
has_exact_synonym: Thrombocytasthenia
has_exact_synonym: deficiency of GP IIb-IIIa complex
has_exact_synonym: deficiency of glycoprotein complex IIb-IIIa
has_exact_synonym: deficiency of platelet fibrinogen receptor
has_exact_synonym: platelet glycoprotein IIb-IIIa deficiency
has_exact_synonym: platelet-type bleeding disorder 2
has_exact_synonym: thrombasthenia of Glanzmann and Naegeli
in_subset: NCIthesaurus
imported from: doid.owl

factor X deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: blood coagulation disease
definition: A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood.
id: DOID:2222
database_cross_reference: SNOMEDCT_US_2020_03_01:76642003
database_cross_reference: GARD:6404
database_cross_reference: UMLS_CUI:C0015519
database_cross_reference: MESH:D005171
has_exact_synonym: Factor X deficiency
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C131632
has_exact_synonym: disease, Stuart-Prower
in_subset: NCIthesaurus
imported from: doid.owl

platelet storage pool deficiency
type: Class
subclass of: blood platelet disease
has_obo_namespace: disease_ontology
id: DOID:2223
has_exact_synonym: Dense body defect
database_cross_reference: GARD:5034
database_cross_reference: MESH:D010981
database_cross_reference: SNOMEDCT_US_2020_03_01:234474009
database_cross_reference: OMIM:185050
has_exact_synonym: Platelet dense granule deficiency
has_exact_synonym: Platelet storage pool defect
database_cross_reference: UMLS_CUI:C0032197
imported from: doid.owl

essential thrombocythemia
type: Class
subclass of: myeloproliferative neoplasm
has_obo_namespace: disease_ontology
has_exact_synonym: Essential thrombocythaemia
database_cross_reference: OMIM:614521
database_cross_reference: UMLS_CUI:C0040028
database_cross_reference: ICD10CM:D47.3
database_cross_reference: GARD:6594
database_cross_reference: ICD9CM:238.71
database_cross_reference: OMIM:601977
database_cross_reference: OMIM:187950
database_cross_reference: MESH:D013920
database_cross_reference: NCI:C3407
database_cross_reference: SNOMEDCT_US_2020_03_01:234499005
id: DOID:2224
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
database_cross_reference: ORDO:3318
database_cross_reference: ORDO:71493
has_exact_synonym: familial thrombocytosis
has_exact_synonym: hemorrhagic thrombocythemia
has_exact_synonym: hereditary thrombocythemia
has_exact_synonym: primary Thrombocytosis
in_subset: DO cancer slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

myeloproliferative neoplasm
type: Class
subclass of: myeloid neoplasm
has_exact_synonym: CMPD
has_exact_synonym: CMPD, U
has_alternative_id: DOID:6002
database_cross_reference: SNOMEDCT_US_2020_03_01:115248004
database_cross_reference: UMLS_CUI:C1292778
id: DOID:2226
database_cross_reference: ICD10CM:D47.1
definition: A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
has_exact_synonym: chronic myeloproliferative disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4345
in_subset: NCIthesaurus
imported from: doid.owl

thrombocytosis
type: Class
subclass of: blood platelet disease
database_cross_reference: NCI:C35530
id: DOID:2228
database_cross_reference: UMLS_CUI:C0836924
database_cross_reference: SNOMEDCT_US_2020_03_01:165557006
definition: A blood platelet disease that is characterized by the presence of high platelet counts in the blood.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013922
has_exact_synonym: Thrombocythaemia
in_subset: NCIthesaurus
imported from: doid.owl

factor XI deficiency
type: Class
subclass of: autosomal genetic disease
subclass of: blood coagulation disease
database_cross_reference: ICD10CM:D68.1
database_cross_reference: MESH:D005173
database_cross_reference: GARD:9670
database_cross_reference: OMIM:612416
database_cross_reference: ICD9CM:286.2
has_obo_namespace: disease_ontology
has_exact_synonym: Congenital factor XI deficiency
database_cross_reference: UMLS_CUI:C0015523
id: DOID:2229
has_exact_synonym: Hereditary factor XI deficiency disease
database_cross_reference: NCI:C84705
definition: A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Rosenthal's disease
database_cross_reference: SNOMEDCT_US_2020_03_01:49762007
has_exact_synonym: hemophilia C
has_exact_synonym: plasma thromboplastin antecedent deficiency
in_subset: NCIthesaurus
imported from: doid.owl

factor XII deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: blood coagulation disease
database_cross_reference: OMIM:234000
database_cross_reference: ORDO:330
database_cross_reference: NCI:C131740
database_cross_reference: UMLS_CUI:C0015526
database_cross_reference: SNOMEDCT_US_2020_03_01:46981006
database_cross_reference: GARD:6558
id: DOID:2231
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D005175
definition: A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.
has_exact_synonym: Factor XII deficiency disease
has_exact_synonym: Hageman Factor deficiency
has_exact_synonym: deficiency, Hageman
in_subset: NCIthesaurus
imported from: doid.owl

focal epilepsy
type: Class
subclass of: epilepsy
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0014547
database_cross_reference: MESH:D004828
definition: An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
id: DOID:2234
database_cross_reference: NCI:C122812
database_cross_reference: SNOMEDCT_US_2020_03_01:230381009
has_exact_synonym: localisation-related epilepsy
has_exact_synonym: partial epilepsy
in_subset: NCIthesaurus
imported from: doid.owl

congenital afibrinogenemia
type: Class
subclass of: autosomal recessive disease
subclass of: physical disorder
subclass of: blood coagulation disease
database_cross_reference: SNOMEDCT_US_2020_03_01:278504009
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:5761
definition: A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
database_cross_reference: OMIM:202400
database_cross_reference: NCI:C98130
id: DOID:2236
has_exact_synonym: Factor I deficiency
has_exact_synonym: Fibrinogen deficiency
database_cross_reference: MESH:D000347
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0001733
in_subset: NCIthesaurus
imported from: doid.owl

hepatitis
type: Class
subclass of: liver disease
database_cross_reference: ICD9CM:570
database_cross_reference: UMLS_CUI:C0001308
database_cross_reference: UMLS_CUI:C0019189
database_cross_reference: MESH:D006521
database_cross_reference: NCI:C82978
has_alternative_id: DOID:14551
has_alternative_id: DOID:12352
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155813004
database_cross_reference: ICD9CM:571.4
database_cross_reference: SNOMEDCT_US_2020_03_01:197268000
database_cross_reference: UMLS_CUI:C0149519
database_cross_reference: SNOMEDCT_US_2020_03_01:266539002
has_alternative_id: DOID:1707
has_alternative_id: DOID:1706
has_alternative_id: DOID:2238
database_cross_reference: ICD10CM:K73.9
id: DOID:2237
database_cross_reference: ICD9CM:571.41
has_exact_synonym: acute and subacute liver necrosis
has_exact_synonym: acute hepatitis
has_exact_synonym: acute/subac. necrosis of liver
has_exact_synonym: animal hepatitis
has_exact_synonym: chronic hepatitis
has_exact_synonym: chronic persistent hepatitis
in_subset: NCIthesaurus
imported from: doid.owl

transient cerebral ischemia
type: Class
subclass of: brain ischemia
database_cross_reference: MESH:D002546
database_cross_reference: ICD10CM:G45.9
database_cross_reference: SNOMEDCT_US_2020_03_01:195196001
database_cross_reference: NCI:C50781
database_cross_reference: UMLS_CUI:C0007787
id: DOID:224
definition: A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
has_alternative_id: DOID:2315
has_exact_synonym: TIA
has_exact_synonym: TIA - Transient ischaemic attack
has_exact_synonym: TRANSIENT ISCHEMIC ATTACK
has_exact_synonym: Transient cerebral ischemia
has_exact_synonym: Transient ischemic attacks
has_obo_namespace: disease_ontology
has_exact_synonym: Transient cerebral ischaemia
has_exact_synonym: transient ischemic attack
in_subset: NCIthesaurus
imported from: doid.owl

spondylosis
type: Class
subclass of: bone structure disease
database_cross_reference: SNOMEDCT_US_2020_03_01:8847002
database_cross_reference: ICD10CM:M47
id: DOID:2247
has_alternative_id: DOID:8888
has_obo_namespace: disease_ontology
has_alternative_id: DOID:8905
has_alternative_id: DOID:8709
has_alternative_id: DOID:8708
database_cross_reference: MESH:D055009
database_cross_reference: ICD9CM:721.9
has_exact_synonym: Spondylogenic compression of lumbar spinal cord
has_exact_synonym: Spondylogenic compression of thoracic spinal cord
has_exact_synonym: Spondylosis with myelopathy
has_exact_synonym: Thoracic or lumbar spondylosis with myelopathy
database_cross_reference: UMLS_CUI:C0038019
definition: An bone structure disease that involves degeneration between vertebra located_in vertebral column.
has_alternative_id: DOID:9949
has_exact_synonym: Lumbar spondylosis with myelopathy
database_cross_reference: OMIM:184300
has_exact_synonym: lumbosacral spondylosis without myelopathy
has_exact_synonym: spondylosis with myelopathy
imported from: doid.owl

syndrome
type: Class
subclass of: disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013577
definition: A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
database_cross_reference: UMLS_CUI:C0039082
database_cross_reference: NCI:C28193
id: DOID:225
database_cross_reference: SNOMEDCT_US_2020_03_01:64572001
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

cervix disease
type: Class
subclass of: uterine disease
database_cross_reference: SNOMEDCT_US_2020_03_01:63339007
id: DOID:2253
database_cross_reference: MESH:D002577
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0007867
definition: A uterine disease that is located_in the cervix.
database_cross_reference: NCI:C40241
in_subset: NCIthesaurus
imported from: doid.owl

osteochondrodysplasia
type: Class
subclass of: bone development disease
database_cross_reference: SNOMEDCT_US_2020_03_01:205510001
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:Q78.9
definition: A bone development disease that results_in defective development of cartilage or bone.
has_exact_synonym: Congenital anomaly of cartilage
id: DOID:2256
has_alternative_id: DOID:1764
database_cross_reference: UMLS_CUI:C0008449
has_exact_synonym: Cartilage Development disorder
has_exact_synonym: skeletal dysplasia
database_cross_reference: SNOMEDCT_US_2020_03_01:67988000
database_cross_reference: ICD9CM:756.4
database_cross_reference: MESH:D010009
database_cross_reference: NCI:C34466
database_cross_reference: NCI:C84978
has_exact_synonym: Osteochondrodysplasia syndrome
database_cross_reference: UMLS_CUI:C0029422
has_exact_synonym: chondrodystrophy
in_subset: NCIthesaurus
imported from: doid.owl

ankylosis
type: Class
subclass of: arthropathy
id: DOID:227
definition: Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
database_cross_reference: ICD10CM:M24.6
database_cross_reference: SNOMEDCT_US_2020_03_01:36504009
database_cross_reference: MESH:D000844
database_cross_reference: UMLS_CUI:C0003090
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:718.5
imported from: doid.owl

vulvovaginal candidiasis
type: Class
subclass of: vaginal disease
subclass of: candidiasis
database_cross_reference: ICD9CM:112.1
id: DOID:2272
database_cross_reference: ICD10CM:B37.3
database_cross_reference: SNOMEDCT_US_2020_03_01:154404004
definition: A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.
database_cross_reference: MESH:D002181
has_exact_synonym: Candidal vulvovaginitis
has_exact_synonym: Candidal: cervix
has_exact_synonym: Candidiasis of vulva and vagina
has_exact_synonym: Monilial vulvovaginitis
database_cross_reference: NCI:C2914
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0700345
has_exact_synonym: Vulvovaginal Candidiasis
in_subset: NCIthesaurus
imported from: doid.owl

pharyngitis
type: Class
subclass of: upper respiratory tract disease
database_cross_reference: SNOMEDCT_US_2020_03_01:195654001
database_cross_reference: ICD9CM:478.20
database_cross_reference: SNOMEDCT_US_2020_03_01:195763009
database_cross_reference: ICD9CM:462
id: DOID:2275
has_alternative_id: DOID:938
has_alternative_id: DOID:939
has_exact_synonym: Inflamed throat
database_cross_reference: SNOMEDCT_US_2020_03_01:37616004
database_cross_reference: UMLS_CUI:C0001344
database_cross_reference: MESH:D010608
database_cross_reference: NCI:C34355
database_cross_reference: MESH:D010612
database_cross_reference: ICD10CM:J02
has_alternative_id: DOID:11586
database_cross_reference: ICD9CM:472
has_alternative_id: DOID:10455
has_alternative_id: DOID:11588
database_cross_reference: UMLS_CUI:C0031350
database_cross_reference: NCI:C26851
database_cross_reference: NCI:C26850
definition: An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.
has_exact_synonym: Persistent sore throat
has_exact_synonym: Pharyngeal disorder
has_exact_synonym: Pharyngitis - acute
has_exact_synonym: Sore throat - chronic
database_cross_reference: UMLS_CUI:C0031345
database_cross_reference: SNOMEDCT_US_2020_03_01:75860007
database_cross_reference: UMLS_CUI:C0155824
has_obo_namespace: disease_ontology
has_exact_synonym: acute pharyngitis
has_exact_synonym: acute sore throat
has_exact_synonym: chronic pharyn/nasopharyngitis
has_exact_synonym: chronic pharyngitis
has_exact_synonym: chronic pharyngitis and nasopharyngitis
has_exact_synonym: chronic sore throat
has_related_synonym: pharyngeal disease
in_subset: NCIthesaurus
imported from: doid.owl

gonadal disease
type: Class
subclass of: endocrine system disease
database_cross_reference: MESH:D006058
id: DOID:2277
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26786
definition: An endocrine system disease that is located_in the gonads.
database_cross_reference: UMLS_CUI:C0018050
in_subset: NCIthesaurus
imported from: doid.owl

hidradenitis suppurativa
type: Class
subclass of: hidradenitis
database_cross_reference: ICD10CM:L73.2
database_cross_reference: SNOMEDCT_US_2020_03_01:201204008
database_cross_reference: MESH:D017497
database_cross_reference: UMLS_CUI:C0162836
database_cross_reference: OMIM:142690
definition: A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.
has_obo_namespace: disease_ontology
id: DOID:2280
has_exact_synonym: Acne inversa, familial
has_exact_synonym: Hidradenitis suppurativa
database_cross_reference: NCI:C128429
database_cross_reference: GARD:6658
database_cross_reference: OMIM:613736
database_cross_reference: OMIM:613737
comment: OMIM mapping confirmed by DO. [SN].
in_subset: NCIthesaurus
imported from: doid.owl

hidradenitis
type: Class
subclass of: sweat gland disease
database_cross_reference: ICD9CM:705.83
database_cross_reference: MESH:D016575
has_exact_synonym: Hydradenitis
database_cross_reference: NCI:C112190
database_cross_reference: UMLS_CUI:C0085160
id: DOID:2282
database_cross_reference: SNOMEDCT_US_2020_03_01:267866004
definition: A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain.
has_exact_synonym: Hidradenitis
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

keratopathy
type: Class
subclass of: corneal disease
database_cross_reference: NCI:C27012
has_obo_namespace: disease_ontology
id: DOID:2283
database_cross_reference: UMLS_CUI:C0235270
in_subset: NCIthesaurus
imported from: doid.owl

female reproductive system disease
type: Class
subclass of: reproductive system disease
database_cross_reference: ICD9CM:629.9
database_cross_reference: MESH:D005831
definition: A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes.
id: DOID:229
database_cross_reference: SNOMEDCT_US_2020_03_01:38233001
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0017411
imported from: doid.owl

leptospirosis
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:154391003
database_cross_reference: UMLS_CUI:C0023364
database_cross_reference: ICD9CM:100
database_cross_reference: ICD9CM:100.0
has_exact_synonym: Fort Bragg fever
database_cross_reference: GARD:7881
has_exact_synonym: Leptospirosis icterohaemorrhagica
database_cross_reference: SNOMEDCT_US_2020_03_01:398067003
id: DOID:2297
database_cross_reference: UMLS_CUI:C0043102
definition: A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.
database_cross_reference: ICD10CM:A27.0
has_alternative_id: DOID:11348
database_cross_reference: MESH:D014895
database_cross_reference: NCI:C84825
database_cross_reference: ICD10CM:A27
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007922
has_exact_synonym: Rat Catcher's Yellows
has_exact_synonym: Weil's disease
has_exact_synonym: nanukayami fever
has_exact_synonym: spirochetal jaundice
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

lateral sclerosis
type: Class
subclass of: motor neuron disease
database_cross_reference: NCI:C129933
database_cross_reference: SNOMEDCT_US_2020_03_01:81211007
database_cross_reference: OMIM:611637
definition: A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.
database_cross_reference: ORDO:35689
id: DOID:230
comment: Xref MGI.
database_cross_reference: UMLS_CUI:C0154682
database_cross_reference: ICD10CM:G12.23
database_cross_reference: MESH:D016472
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:335.24
has_exact_synonym: adult-onset primary lateral sclerosis
has_exact_synonym: primary lateral sclerosis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

spondylolysis
type: Class
subclass of: bone structure disease
database_cross_reference: ICD10CM:M43.0
database_cross_reference: SNOMEDCT_US_2020_03_01:203688008
database_cross_reference: MESH:D013169
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0038018
database_cross_reference: NCI:C35034
definition: A bone structure disease that involves a defect located_in lumbar vertebral column.
id: DOID:2300
in_subset: NCIthesaurus
imported from: doid.owl

stereotypic movement disorder
type: Class
subclass of: specific developmental disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:5507002
database_cross_reference: MESH:D019956
database_cross_reference: ICD10CM:F98.4
id: DOID:2303
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:307.3
database_cross_reference: UMLS_CUI:C0038273
definition: A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking.
has_exact_synonym: Stereotyped repetitive movements
has_exact_synonym: Stereotypy habit disorder
imported from: doid.owl

motor neuron disease
type: Class
subclass of: neurodegenerative disease
database_cross_reference: UMLS_CUI:C0085084
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:37340000
database_cross_reference: ICD10CM:G12.2
database_cross_reference: ICD9CM:335.2
id: DOID:231
database_cross_reference: MESH:D016472
definition: A neurodegenerative disease that is located_in the motor neurones.
in_subset: DO FlyBase slim
imported from: doid.owl

nocardiosis
type: Class
subclass of: opportunistic bacterial infectious disease
database_cross_reference: ICD10CM:A43
definition: An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy.
database_cross_reference: MESH:D009617
database_cross_reference: UMLS_CUI:C0028242
database_cross_reference: SNOMEDCT_US_2020_03_01:29227009
has_obo_namespace: disease_ontology
id: DOID:2312
database_cross_reference: GARD:7210
has_exact_synonym: Nocardia infectious disease
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

brain ischemia
type: Class
subclass of: ischemia
subclass of: cerebrovascular disease
definition: An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.
database_cross_reference: UMLS_CUI:C0007786
has_obo_namespace: disease_ontology
id: DOID:2316
has_exact_synonym: Ischaemic encephalopathy
has_exact_synonym: Ischemic encephalopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:193049009
database_cross_reference: MESH:D002545
has_exact_synonym: cerebral ischemia
imported from: doid.owl

obstructive lung disease
type: Class
subclass of: lung disease
database_cross_reference: UMLS_CUI:C0600260
database_cross_reference: MESH:D008173
id: DOID:2320
definition: A lung disease that is characterized by narrowing of pulmonary airways.
has_obo_namespace: disease_ontology
has_exact_synonym: respiratory airway obstruction
imported from: doid.owl

gastroenteritis
type: Class
subclass of: gastrointestinal system disease
database_cross_reference: NCI:C34632
database_cross_reference: SNOMEDCT_US_2020_03_01:154278002
definition: A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
database_cross_reference: ICD10CM:K52.9
has_alternative_id: DOID:4094
id: DOID:2326
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0017160
has_alternative_id: DOID:5269
database_cross_reference: MESH:D005759
has_exact_synonym: cholera morbus
has_exact_synonym: infectious colitis, enteritis and gastroenteritis
in_subset: NCIthesaurus
imported from: doid.owl

mandibular cancer
type: Class
subclass of: jaw cancer
database_cross_reference: UMLS_CUI:C0153511
has_alternative_id: DOID:12408
definition: A jaw cancer and mandibular disease that affects your lower jawbone.
database_cross_reference: ICD9CM:170.1
database_cross_reference: UMLS_CUI:C0024694
database_cross_reference: MESH:D008339
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C41.1
id: DOID:2338
database_cross_reference: NCI:C35178
database_cross_reference: SNOMEDCT_US_2020_03_01:448668007
database_cross_reference: SNOMEDCT_US_2020_03_01:126551000
has_exact_synonym: malignant neoplasm of inferior maxilla
has_exact_synonym: malignant neoplasm of lower Jaw bone
has_related_synonym: malignant neoplasm of mandible
has_exact_synonym: mandible cancer
has_related_synonym: mandibular neoplasm
has_exact_synonym: neoplasm of mandible
in_subset: NCIthesaurus
imported from: doid.owl

craniosynostosis
type: Class
subclass of: synostosis
database_cross_reference: SNOMEDCT_US_2020_03_01:205414007
database_cross_reference: ICD10CM:Q75.0
definition: A synostosis that results_in premature fusion located_in skull.
database_cross_reference: MESH:D003398
database_cross_reference: OMIM:182212
database_cross_reference: NCI:C84655
database_cross_reference: ORDO:1531
database_cross_reference: OMIM:600593
id: DOID:2340
database_cross_reference: OMIM:604757
database_cross_reference: OMIM:600775
database_cross_reference: UMLS_CUI:C0010278
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6209
comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
database_cross_reference: OMIM:123100
database_cross_reference: OMIM:615314
has_exact_synonym: Premature closure of cranial sutures
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

polyclonal hypergammaglobulinemia
type: Class
subclass of: plasma protein metabolism disease
database_cross_reference: ICD10CM:D89.0
database_cross_reference: NCI:C35885
database_cross_reference: UMLS_CUI:C0154254
database_cross_reference: SNOMEDCT_US_2020_03_01:190808009
id: DOID:2344
database_cross_reference: ICD9CM:273.0
has_exact_synonym: Polyclonal hypergammaglobulinemia
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

plasma protein metabolism disease
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that involves plasma protein metabolism malfunction.
database_cross_reference: UMLS_CUI:C0029594
database_cross_reference: SNOMEDCT_US_2020_03_01:190822009
has_obo_namespace: disease_ontology
id: DOID:2345
database_cross_reference: ICD9CM:273.8
imported from: doid.owl

arteriosclerotic cardiovascular disease
type: Class
subclass of: arteriosclerosis
database_cross_reference: SNOMEDCT_US_2020_03_01:39468009
database_cross_reference: UMLS_CUI:C0004153
database_cross_reference: SNOMEDCT_US_2020_03_01:155414001
database_cross_reference: NCI:C34403
has_exact_synonym: Cardiovascular arteriosclerosis
database_cross_reference: NCI:C35768
database_cross_reference: UMLS_CUI:C3665365
database_cross_reference: ICD10CM:I70
database_cross_reference: ICD9CM:440
database_cross_reference: MESH:D050197
id: DOID:2348
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

arteriosclerosis
type: Class
subclass of: artery disease
has_exact_synonym: Arteriosclerosis
database_cross_reference: MESH:D001161
database_cross_reference: UMLS_CUI:C0003850
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:195251000
has_exact_synonym: Arteriosclerotic vascular disease
database_cross_reference: ICD10CM:I70
definition: An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
id: DOID:2349
database_cross_reference: NCI:C34398
in_subset: NCIthesaurus
imported from: doid.owl

colonic benign neoplasm
type: Class
subclass of: lymphangioma
subclass of: intestinal benign neoplasm
subclass of: colonic disease
definition: An intestinal benign neoplasm that is located_in the colon.
has_exact_synonym: Colonic tumor
database_cross_reference: MESH:D003110
has_exact_synonym: Colonic Mass
database_cross_reference: SNOMEDCT_US_2020_03_01:126838000
id: DOID:235
database_cross_reference: UMLS_CUI:C0009375
database_cross_reference: NCI:C2953
has_exact_synonym: colon neoplasm
has_obo_namespace: disease_ontology
has_exact_synonym: neoplasm of colon
in_subset: NCIthesaurus
imported from: doid.owl

iron metabolism disease
type: Class
subclass of: mineral metabolism disease
id: DOID:2351
database_cross_reference: UMLS_CUI:C0012715
database_cross_reference: SNOMEDCT_US_2020_03_01:30913008
database_cross_reference: MESH:D019189
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:275.0
database_cross_reference: ICD10CM:E83.1
has_exact_synonym: Iron disorder
has_exact_synonym: disorder of iron metabolism
has_exact_synonym: iron disorder
imported from: doid.owl

hemochromatosis
type: Class
subclass of: metal metabolism disorder
database_cross_reference: OMIM:231100
database_cross_reference: OMIM:PS235200
database_cross_reference: MESH:D006432
database_cross_reference: UMLS_CUI:C0018995
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84481
id: DOID:2352
comment: Xref MGI.
definition: A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
has_exact_synonym: Haemochromatosis
database_cross_reference: ORDO:139498
database_cross_reference: SNOMEDCT_US_2020_03_01:86781004
database_cross_reference: ICD10CM:E83.11
has_exact_synonym: diabetes bronze
has_exact_synonym: iron storage disorder
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

myelophthisic anemia
type: Class
subclass of: aplastic anemia
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0002890
database_cross_reference: SNOMEDCT_US_2020_03_01:2694001
definition: An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas.
has_exact_synonym: ANEMIA LEUKOERYTHROBLASTIC
has_exact_synonym: Anemia, leukoerythroblastic
id: DOID:2354
database_cross_reference: ICD10CM:D61.82
database_cross_reference: MESH:D000750
has_exact_synonym: Leukoerythroblastosis
has_related_synonym: myelophthisis
in_subset: NCIthesaurus
imported from: doid.owl

anemia
type: Class
subclass of: hematopoietic system disease
database_cross_reference: UMLS_CUI:C0002871
database_cross_reference: ICD9CM:285.9
database_cross_reference: NCI:C2869
comment: PRISM.
database_cross_reference: SNOMEDCT_US_2020_03_01:64593003
id: DOID:2355
database_cross_reference: MESH:D000740
database_cross_reference: ICD10CM:D64.9
database_cross_reference: EFO:0004272
definition: A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
has_exact_synonym: anaemia
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

macrocytic anemia
type: Class
subclass of: anemia
database_cross_reference: SNOMEDCT_US_2020_03_01:83414005
id: DOID:2361
has_exact_synonym: ANEMIA MACROCYTIC
database_cross_reference: UMLS_CUI:C0002886
database_cross_reference: NCI:C34381
database_cross_reference: MESH:D000748
has_exact_synonym: Macrocytic anaemia
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

West Nile encephalitis
type: Class
subclass of: viral infectious disease
subclass of: brain disease
database_cross_reference: UMLS_CUI:C0751583
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:066.41
database_cross_reference: MESH:D014901
database_cross_reference: GARD:9959
definition: A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis.
database_cross_reference: SNOMEDCT_US_2020_03_01:392662004
id: DOID:2365
database_cross_reference: ICD10CM:A92.31
has_exact_synonym: West Nile Fever with encephalitis
has_exact_synonym: West Nile fever encephalitis
in_subset: zoonotic infectious disease
imported from: doid.owl

West Nile fever
type: Class
subclass of: viral infectious disease
database_cross_reference: UMLS_CUI:C0043124
database_cross_reference: MESH:D014901
database_cross_reference: ICD10CM:A92.3
id: DOID:2366
definition: A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:12381007
database_cross_reference: ICD9CM:066.4
in_subset: zoonotic infectious disease
imported from: doid.owl

neuroaxonal dystrophy
type: Class
subclass of: cerebral degeneration
id: DOID:2367
database_cross_reference: UMLS_CUI:C0338473
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D019150
database_cross_reference: SNOMEDCT_US_2020_03_01:230365004
database_cross_reference: NCI:C161542
imported from: doid.owl

gangliosidosis
type: Class
subclass of: autosomal recessive disease
subclass of: sphingolipidosis
database_cross_reference: MESH:D005733
database_cross_reference: UMLS_CUI:C0017083
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:309144
id: DOID:2368
definition: A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides.
database_cross_reference: SNOMEDCT_US_2020_03_01:50967008
database_cross_reference: ICD10CM:E75.10
database_cross_reference: GARD:12510
imported from: doid.owl

hereditary elliptocytosis
type: Class
subclass of: hematopoietic system disease
database_cross_reference: ORDO:288
database_cross_reference: OMIM:611804
database_cross_reference: ICD10CM:D58.1
id: DOID:2373
database_cross_reference: OMIM:130600
database_cross_reference: MESH:D004612
has_obo_namespace: disease_ontology
definition: A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.
has_exact_synonym: Congenital elliptocytosis
database_cross_reference: UMLS_CUI:C0013902
database_cross_reference: ICD9CM:282.1
database_cross_reference: NCI:C35882
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:6621
database_cross_reference: SNOMEDCT_US_2020_03_01:154801000
has_exact_synonym: ovalocytosis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

multiple sclerosis
type: Class
subclass of: autoimmune disease of central nervous system
subclass of: demyelinating disease
definition: A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
database_cross_reference: EFO:0003885
database_cross_reference: GARD:10255
comment: OMIM mapping confirmed by DO. [LS].
id: DOID:2377
database_cross_reference: ICD9CM:340
database_cross_reference: ICD10CM:G35
has_exact_synonym: Generalized multiple sclerosis
database_cross_reference: OMIM:612596
database_cross_reference: UMLS_CUI:C0026769
database_cross_reference: OMIM:612595
database_cross_reference: OMIM:612594
database_cross_reference: SNOMEDCT_US_2020_03_01:155023009
database_cross_reference: MESH:D009103
database_cross_reference: NCI:C3243
has_obo_namespace: disease_ontology
has_exact_synonym: insular sclerosis
in_subset: NCIthesaurus
imported from: doid.owl

kernicterus
type: Class
subclass of: brain disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:P57
database_cross_reference: NCI:C84799
database_cross_reference: GARD:6830
database_cross_reference: SNOMEDCT_US_2020_03_01:157135006
database_cross_reference: UMLS_CUI:C0022610
definition: A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
id: DOID:2382
database_cross_reference: MESH:D007647
has_exact_synonym: bilirubin encephalopathy
in_subset: NCIthesaurus
imported from: doid.owl

neonatal jaundice
type: Class
subclass of: pigmentation disease
database_cross_reference: UMLS_CUI:C0022353
database_cross_reference: ICD10CM:P59.9
database_cross_reference: NCI:C99246
database_cross_reference: MESH:D007567
id: DOID:2383
database_cross_reference: SNOMEDCT_US_2020_03_01:299968002
definition: A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.
has_obo_namespace: disease_ontology
has_exact_synonym: neonatal hyperbilirubinemia
has_exact_synonym: neonatal icterus
in_subset: NCIthesaurus
imported from: doid.owl

Wernicke encephalopathy
type: Class
subclass of: brain disease
database_cross_reference: MESH:D014899
database_cross_reference: SNOMEDCT_US_2020_03_01:190627001
database_cross_reference: UMLS_CUI:C0043121
id: DOID:2384
has_exact_synonym: Wernicke's encephalopathy
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E51.2
definition: A brain disease that is characterised by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1).
has_exact_synonym: Wernicke's disease
imported from: doid.owl

renal artery disease
type: Class
subclass of: artery disease
database_cross_reference: UMLS_CUI:C0268790
database_cross_reference: NCI:C35338
id: DOID:2388
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:593.81
database_cross_reference: SNOMEDCT_US_2020_03_01:16934004
has_exact_synonym: renal vascular disease
has_exact_synonym: vascular disorder of kidney
in_subset: NCIthesaurus
imported from: doid.owl

ovarian cancer
type: Class
subclass of: ovarian disease
subclass of: female reproductive organ cancer
has_alternative_id: DOID:0060070
database_cross_reference: UMLS_CUI:C0919267
database_cross_reference: MESH:D010051
database_cross_reference: OMIM:607893
has_alternative_id: DOID:9595
database_cross_reference: SNOMEDCT_US_2020_03_01:372117006
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:123843001
database_cross_reference: NCI:C7431
id: DOID:2394
database_cross_reference: ORDO:213517
database_cross_reference: ICD10CM:C56
database_cross_reference: NCI:C4984
database_cross_reference: UMLS_CUI:C1299247
database_cross_reference: ORDO:213500
database_cross_reference: OMIM:167000
definition: A female reproductive organ cancer that is located_in the ovary.
database_cross_reference: ICD9CM:183.0
has_alternative_id: DOID:2144
database_cross_reference: GARD:7295
database_cross_reference: UMLS_CUI:C1140680
database_cross_reference: SNOMEDCT_US_2020_03_01:93934004
has_obo_namespace: disease_ontology
has_exact_synonym: malignant Ovarian tumor
has_exact_synonym: malignant tumour of ovary
has_exact_synonym: ovarian neoplasm
has_exact_synonym: ovary neoplasm
has_exact_synonym: primary ovarian cancer
has_exact_synonym: tumor of the Ovary
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

iris disease
type: Class
subclass of: uveal disease
database_cross_reference: NCI:C34737
has_obo_namespace: disease_ontology
id: DOID:240
database_cross_reference: SNOMEDCT_US_2020_03_01:85478004
database_cross_reference: MESH:D007499
database_cross_reference: UMLS_CUI:C0022078
in_subset: NCIthesaurus
imported from: doid.owl

granular cell tumor
type: Class
subclass of: skin benign neoplasm
has_obo_namespace: disease_ontology
id: DOID:2411
database_cross_reference: MESH:D016586
database_cross_reference: UMLS_CUI:C0085167
database_cross_reference: GARD:9618
database_cross_reference: SNOMEDCT_US_2020_03_01:12169001
database_cross_reference: NCI:C3474
has_exact_synonym: neoplasm of granular cell
in_subset: NCIthesaurus
imported from: doid.owl

cutaneous ganglioneuroma
type: Class
subclass of: skin benign neoplasm
database_cross_reference: NCI:C4481
has_exact_synonym: Cutaneous Ganglioneuroma
id: DOID:2425
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:254766004
database_cross_reference: UMLS_CUI:C0346063
has_exact_synonym: Ganglioneuroma of skin
in_subset: NCIthesaurus
imported from: doid.owl

gangliocytoma
type: Class
subclass of: central nervous system benign neoplasm
database_cross_reference: MESH:D005729
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6934
id: DOID:2426
database_cross_reference: SNOMEDCT_US_2020_03_01:78268004
database_cross_reference: GARD:10638
has_exact_synonym: gangliocytoma of central nervous system
definition: A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells.
in_subset: NCIthesaurus
imported from: doid.owl

epidermal appendage tumor
type: Class
subclass of: skin benign neoplasm
has_obo_namespace: disease_ontology
id: DOID:2433
database_cross_reference: SNOMEDCT_US_2020_03_01:126489007
database_cross_reference: UMLS_CUI:C0345988
database_cross_reference: NCI:C4463
has_exact_synonym: neoplasm of skin with adnexal differentiation
has_exact_synonym: neoplasm of the skin Appendage
has_exact_synonym: skin appendage tumour
in_subset: NCIthesaurus
imported from: doid.owl

glomangioma
type: Class
subclass of: benign perivascular tumor
database_cross_reference: MESH:D005918
database_cross_reference: UMLS_CUI:C0334421
database_cross_reference: SNOMEDCT_US_2020_03_01:7429002
id: DOID:2436
database_cross_reference: NCI:C4222
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

dermis tumor
type: Class
subclass of: skin benign neoplasm
id: DOID:2438
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:254735005
database_cross_reference: UMLS_CUI:C0346041
database_cross_reference: NCI:C4475
has_exact_synonym: dermis tumour
has_exact_synonym: neoplasm of Dermis
has_exact_synonym: tumor of dermis
has_exact_synonym: tumour of dermis
in_subset: NCIthesaurus
imported from: doid.owl

hyperpituitarism
type: Class
subclass of: pituitary gland disease
has_obo_namespace: disease_ontology
id: DOID:2444
database_cross_reference: SNOMEDCT_US_2020_03_01:10649000
database_cross_reference: UMLS_CUI:C0020506
database_cross_reference: MESH:D006964
imported from: doid.owl

acromegaly
type: Class
subclass of: hyperpituitarism
id: DOID:2449
has_obo_namespace: disease_ontology
database_cross_reference: GARD:5725
database_cross_reference: SNOMEDCT_US_2020_03_01:154698000
definition: A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
database_cross_reference: MESH:D000172
database_cross_reference: UMLS_CUI:C0001206
database_cross_reference: NCI:C84533
in_subset: NCIthesaurus
imported from: doid.owl

central retinal vein occlusion
type: Class
subclass of: retinal vein occlusion
database_cross_reference: MESH:D012170
database_cross_reference: SNOMEDCT_US_2020_03_01:193378003
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:362.35
database_cross_reference: UMLS_CUI:C0154841
database_cross_reference: ICD10CM:H34.81
id: DOID:2450
database_cross_reference: NCI:C118859
in_subset: NCIthesaurus
imported from: doid.owl

protein S deficiency
type: Class
subclass of: thrombophilia
subclass of: blood protein disease
database_cross_reference: MESH:D018455
database_cross_reference: SNOMEDCT_US_2020_03_01:1563006
database_cross_reference: GARD:4524
database_cross_reference: NCI:C99026
database_cross_reference: ICD10CM:D68.59
database_cross_reference: UMLS_CUI:C0242666
id: DOID:2451
has_exact_synonym: Protein S deficiency
has_exact_synonym: Protein S deficiency disease
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

thrombophilia
type: Class
subclass of: blood coagulation disease
database_cross_reference: SNOMEDCT_US_2020_03_01:191302007
database_cross_reference: UMLS_CUI:C0398623
database_cross_reference: ICD10CM:D68.59
id: DOID:2452
comment: OMIM mapping confirmed by DO. [LS].
has_obo_namespace: disease_ontology
definition: A blood coagulation disease that is characterized by an increased tendency to form clots.
database_cross_reference: OMIM:PS188050
database_cross_reference: MESH:D019851
database_cross_reference: NCI:C84479
has_exact_synonym: hypercoagulability state
in_subset: NCIthesaurus
imported from: doid.owl

retinal vascular disease
type: Class
subclass of: vascular disease
subclass of: retinal disease
database_cross_reference: NCI:C35170
database_cross_reference: SNOMEDCT_US_2020_03_01:57534004
database_cross_reference: UMLS_CUI:C0154833
id: DOID:2462
has_obo_namespace: disease_ontology
has_exact_synonym: retina circulation disorder
in_subset: NCIthesaurus
imported from: doid.owl

psychotic disorder
type: Class
subclass of: cognitive disorder
database_cross_reference: ICD9CM:298.8
id: DOID:2468
database_cross_reference: EFO:0000677
definition: A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029516
has_exact_synonym: mental or behavioural disorder
imported from: doid.owl

opportunistic mycosis
type: Class
subclass of: systemic mycosis
has_obo_namespace: disease_ontology
has_alternative_id: DOID:0050137
database_cross_reference: SNOMEDCT_US_2020_03_01:78999002
database_cross_reference: ICD9CM:118
database_cross_reference: UMLS_CUI:C0029119
id: DOID:2473
definition: A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices.
has_exact_synonym: Opportunistic mycoses
has_exact_synonym: Opportunistic mycosis
has_exact_synonym: opportunistic systemic mycoses
imported from: doid.owl

chronic conjunctivitis
type: Class
subclass of: conjunctivitis
database_cross_reference: ICD9CM:372.1
database_cross_reference: UMLS_CUI:C0155145
database_cross_reference: ICD10CM:H10.4
id: DOID:2475
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35197
database_cross_reference: SNOMEDCT_US_2020_03_01:155163007
has_exact_synonym: chronic Conjunctivitis
in_subset: NCIthesaurus
imported from: doid.owl

motor peripheral neuropathy
type: Class
subclass of: neuropathy
id: DOID:2477
has_exact_synonym: HSMN - Hereditary sensory and motor neuropathy
database_cross_reference: NCI:C75467
database_cross_reference: MESH:D015417
database_cross_reference: UMLS_CUI:C0027888
database_cross_reference: SNOMEDCT_US_2020_03_01:128202008
database_cross_reference: ICD10CM:G60.0
has_exact_synonym: Hereditary motor and sensory neuropathy
has_obo_namespace: disease_ontology
has_exact_synonym: HSMN
has_exact_synonym: neuropathic muscular atrophy
in_subset: NCIthesaurus
imported from: doid.owl

central nervous system origin vertigo
type: Class
subclass of: brain disease
database_cross_reference: MESH:D014717
database_cross_reference: ICD9CM:386.2
database_cross_reference: ICD10CM:H81.4
definition: A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155503
database_cross_reference: SNOMEDCT_US_2020_03_01:20425006
id: DOID:2479
has_exact_synonym: Vertigo of central origin
has_exact_synonym: central vestibular vertigo
imported from: doid.owl

trachea leiomyoma
type: Class
subclass of: respiratory system benign neoplasm
subclass of: leiomyoma
subclass of: tracheal disease
database_cross_reference: MESH:D014134
database_cross_reference: NCI:C3419
id: DOID:248
has_alternative_id: DOID:246
database_cross_reference: SNOMEDCT_US_2020_03_01:126703006
database_cross_reference: NCI:C6049
database_cross_reference: UMLS_CUI:C1336772
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0040582
definition: A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.
has_exact_synonym: leiomyoma of the Trachea
in_subset: NCIthesaurus
imported from: doid.owl

phosphorus metabolism disease
type: Class
subclass of: mineral metabolism disease
database_cross_reference: UMLS_CUI:C0031707
database_cross_reference: MESH:D010760
database_cross_reference: ICD9CM:275.3
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C97095
id: DOID:2485
has_exact_synonym: Phosphorus disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:190858002
has_exact_synonym: disorder of phosphorus metabolism
has_exact_synonym: phosphorus metabolism disorder
in_subset: NCIthesaurus
imported from: doid.owl

congenital nervous system abnormality
type: Class
subclass of: physical disorder
subclass of: nervous system disease
database_cross_reference: ICD9CM:742
id: DOID:2490
database_cross_reference: UMLS_CUI:C0158538
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:204018008
has_exact_synonym: congenital neurologic anomaly
imported from: doid.owl

sensory peripheral neuropathy
type: Class
subclass of: neuropathy
has_alternative_id: DOID:10596
database_cross_reference: SNOMEDCT_US_2020_03_01:193163001
has_obo_namespace: disease_ontology
id: DOID:2491
database_cross_reference: SNOMEDCT_US_2020_03_01:95662005
definition: A neuropathy that involves damage to nerves of the peripheral nervous system.
database_cross_reference: UMLS_CUI:C0699739
database_cross_reference: MESH:D009477
database_cross_reference: ICD9CM:356.2
database_cross_reference: UMLS_CUI:C0151313
database_cross_reference: NCI:C3501
has_exact_synonym: Sensory neuropathy
has_exact_synonym: peripheral Sensory Neuropathy
has_exact_synonym: sensory neuropathy
in_subset: NCIthesaurus
imported from: doid.owl

gastric antral vascular ectasia
type: Class
subclass of: capillary disease
database_cross_reference: MESH:D020252
database_cross_reference: NCI:C84724
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:412795008
id: DOID:2493
database_cross_reference: UMLS_CUI:C0267211
has_exact_synonym: Watermelon stomach
in_subset: NCIthesaurus
imported from: doid.owl

angiodysplasia
type: Class
subclass of: vascular disease
id: DOID:2494
definition: A vascular disease that is characterized as a small vascular malformation of the gut.
database_cross_reference: SNOMEDCT_US_2020_03_01:71072006
database_cross_reference: MESH:D016888
database_cross_reference: UMLS_CUI:C0085411
has_obo_namespace: disease_ontology
has_alternative_id: DOID:12071
has_exact_synonym: angiodysplasia of stomach and duodenum with hemorrhage
imported from: doid.owl

senile angioma
type: Class
subclass of: skin benign neoplasm
has_obo_namespace: disease_ontology
id: DOID:2495
database_cross_reference: UMLS_CUI:C0343082
database_cross_reference: NCI:C4390
database_cross_reference: SNOMEDCT_US_2020_03_01:5050001
has_exact_synonym: Senile hemangioma
has_exact_synonym: Senile naevus of skin
in_subset: NCIthesaurus
imported from: doid.owl

enamel erosion
type: Class
subclass of: tooth erosion
id: DOID:2497
database_cross_reference: UMLS_CUI:C1456161
database_cross_reference: ICD9CM:521.31
has_obo_namespace: disease_ontology
imported from: doid.owl

tooth erosion
type: Class
subclass of: teeth hard tissue disease
database_cross_reference: ICD10CM:K03.2
database_cross_reference: ICD9CM:521.3
has_alternative_id: DOID:11509
database_cross_reference: MESH:D014077
has_alternative_id: DOID:12687
database_cross_reference: UMLS_CUI:C0040436
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:82212003
id: DOID:2498
has_exact_synonym: generalized erosion
has_exact_synonym: localized erosion
imported from: doid.owl

Takayasu's arteritis
type: Class
subclass of: artery disease
subclass of: vasculitis
database_cross_reference: MESH:D013625
database_cross_reference: ICD10CM:M31.4
database_cross_reference: ICD9CM:446.7
database_cross_reference: GARD:7730
database_cross_reference: NCI:C34391
database_cross_reference: MESH:D001015
database_cross_reference: NCI:C35062
has_exact_synonym: Aortic Arch syndrome
has_alternative_id: DOID:13377
database_cross_reference: SNOMEDCT_US_2020_03_01:42153001
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0003490
database_cross_reference: UMLS_CUI:C0039263
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:207600
definition: A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
has_exact_synonym: Aortic arch arteritis
database_cross_reference: SNOMEDCT_US_2020_03_01:359789008
id: DOID:2508
has_exact_synonym: Aortic arch syndrome
has_exact_synonym: Idiopathic aortitis
has_exact_synonym: Takayasu arteritis
has_exact_synonym: Takayasu's disease
in_subset: NCIthesaurus
imported from: doid.owl

alcohol-induced mental disorder
type: Class
subclass of: substance-induced psychosis
database_cross_reference: ICD9CM:291.89
has_obo_namespace: disease_ontology
id: DOID:251
database_cross_reference: UMLS_CUI:C1456283
imported from: doid.owl

nevoid basal cell carcinoma syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: MESH:D001478
database_cross_reference: NCI:C2892
definition: A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities that has_material_basis_in heterozygous mutation in either PTCH1, PTCH2, or SUFU on chromosome 9q22, 1p32, or 10q24-q25, respectively.
id: DOID:2512
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MEDDRA:10062804
has_exact_synonym: NBCCS
database_cross_reference: OMIM:109400
database_cross_reference: SNOMEDCT_US_2020_03_01:69408002
database_cross_reference: GARD:7166
database_cross_reference: ORDO:377
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0004779
has_exact_synonym: Gorlin syndrome
has_exact_synonym: basal cell nevus syndrome
in_subset: NCIthesaurus
imported from: doid.owl

basal cell carcinoma
type: Class
subclass of: skin carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:127570002
database_cross_reference: UMLS_CUI:C1368295
database_cross_reference: SNOMEDCT_US_2020_03_01:252995000
database_cross_reference: SNOMEDCT_US_2020_03_01:154507009
has_exact_synonym: Basal cell carcinoma of skin
has_exact_synonym: Basal cell neoplasm
database_cross_reference: UMLS_CUI:C0206710
database_cross_reference: MESH:D018295
comment: Xref MGI.
id: DOID:2513
definition: A skin carcinoma affecting basal cells.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C156767
has_alternative_id: DOID:4275
database_cross_reference: KEGG:05217
has_alternative_id: DOID:4276
database_cross_reference: UMLS_CUI:C0007117
has_exact_synonym: Basal cell cancer
has_exact_synonym: Epithelioma basal cell
database_cross_reference: NCI:C7586
database_cross_reference: NCI:C3784
has_exact_synonym: Basal cell tumor
database_cross_reference: EFO:0004193
has_exact_synonym: Rodent ulcer
has_exact_synonym: malignant Basal cell neoplasm
has_exact_synonym: malignant basal cell tumor
in_subset: NCIthesaurus
imported from: doid.owl

orchitis
type: Class
subclass of: testicular disease
id: DOID:2518
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C97145
database_cross_reference: MESH:D009920
database_cross_reference: ICD10CM:N45.2
has_exact_synonym: Inflammation of testis
has_exact_synonym: Orchititis
database_cross_reference: SNOMEDCT_US_2020_03_01:367112009
database_cross_reference: UMLS_CUI:C0029191
in_subset: NCIthesaurus
imported from: doid.owl

testicular disease
type: Class
subclass of: gonadal disease
subclass of: male reproductive system disease
database_cross_reference: MESH:D013733
database_cross_reference: UMLS_CUI:C0039584
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:236763001
database_cross_reference: NCI:C26890
id: DOID:2519
has_exact_synonym: disorder of testis
has_exact_synonym: testis disorder
in_subset: NCIthesaurus
imported from: doid.owl

alcoholic psychosis
type: Class
subclass of: alcohol-induced mental disorder
definition: An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal.
database_cross_reference: MESH:D011604
database_cross_reference: ICD9CM:291.9
id: DOID:252
has_exact_synonym: Alcoholic psychoses
database_cross_reference: UMLS_CUI:C0033936
database_cross_reference: SNOMEDCT_US_2020_03_01:154852003
has_obo_namespace: disease_ontology
imported from: doid.owl

nephrosis
type: Class
subclass of: proteinuria
database_cross_reference: MESH:D009401
id: DOID:2527
definition: A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027720
database_cross_reference: SNOMEDCT_US_2020_03_01:90708001
imported from: doid.owl

splenic disease
type: Class
subclass of: lymphatic system disease
has_alternative_id: DOID:0000815
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013158
database_cross_reference: ICD10CM:D73
database_cross_reference: NCI:C35823
database_cross_reference: UMLS_CUI:C0037997
database_cross_reference: ICD9CM:289.50
database_cross_reference: SNOMEDCT_US_2020_03_01:51244008
id: DOID:2529
has_exact_synonym: Dyssplenism
has_exact_synonym: Spleen disease
in_subset: NCIthesaurus
imported from: doid.owl

splenic abscess
type: Class
subclass of: splenic disease
id: DOID:2530
database_cross_reference: NCI:C35347
database_cross_reference: ICD10CM:D73.3
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:82053000
database_cross_reference: UMLS_CUI:C0272412
in_subset: NCIthesaurus
imported from: doid.owl

hematologic cancer
type: Class
subclass of: organ system cancer
subclass of: hematopoietic system disease
has_obo_namespace: disease_ontology
definition: An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
id: DOID:2531
has_alternative_id: DOID:2532
database_cross_reference: NCI:C27134
database_cross_reference: UMLS_CUI:C0376544
database_cross_reference: MESH:D019337
database_cross_reference: SNOMEDCT_US_2020_03_01:414388001
has_alternative_id: DOID:1034
has_exact_synonym: Hematologic malignancy
has_exact_synonym: Hematologic neoplasm
has_exact_synonym: Hematological tumors
has_exact_synonym: blood cancer
has_exact_synonym: hematopoietic and lymphoid system tumor
has_exact_synonym: hematopoietic cancer
has_exact_synonym: hematopoietic neoplasm
has_exact_synonym: hematopoietic tumors
has_exact_synonym: malignant hematopoietic neoplasm
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

splenic infarction
type: Class
subclass of: splenic disease
database_cross_reference: GARD:9973
database_cross_reference: SNOMEDCT_US_2020_03_01:22996003
has_obo_namespace: disease_ontology
id: DOID:2533
database_cross_reference: UMLS_CUI:C0037998
database_cross_reference: MESH:D013159
database_cross_reference: ICD10CM:D73.5
has_exact_synonym: Splenic infarct
has_exact_synonym: Splenic infarction
imported from: doid.owl

chronic inflammatory demyelinating polyneuritis
type: Class
subclass of: inflammatory and toxic neuropathy
database_cross_reference: SNOMEDCT_US_2020_03_01:128209004
id: DOID:2536
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G61.81
database_cross_reference: ICD9CM:357.81
database_cross_reference: NCI:C84636
database_cross_reference: MESH:D020277
database_cross_reference: UMLS_CUI:C0393819
in_subset: NCIthesaurus
imported from: doid.owl

inflammatory and toxic neuropathy
type: Class
subclass of: neuropathy
database_cross_reference: SNOMEDCT_US_2020_03_01:193172009
database_cross_reference: ICD9CM:357
id: DOID:2537
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154758
imported from: doid.owl

Landau-Kleffner syndrome
type: Class
subclass of: childhood electroclinical syndrome
database_cross_reference: UMLS_CUI:C0282512
database_cross_reference: ICD10CM:G40.8
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84806
database_cross_reference: OMIM:245570
database_cross_reference: GARD:6855
database_cross_reference: MESH:D018887
database_cross_reference: SNOMEDCT_US_2020_03_01:230438007
id: DOID:2538
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:98818
has_exact_synonym: acquired epileptic aphasia
in_subset: NCIthesaurus
imported from: doid.owl

extratemporal epilepsy
type: Class
subclass of: epilepsy
definition: An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe.
database_cross_reference: SNOMEDCT_US_2020_03_01:111498005
has_obo_namespace: disease_ontology
id: DOID:2544
has_exact_synonym: Extratemporal epilepsy
database_cross_reference: UMLS_CUI:C0270849
database_cross_reference: NCI:C7760
in_subset: NCIthesaurus
imported from: doid.owl

hemangioma
type: Class
subclass of: cell type benign neoplasm
subclass of: cardiovascular organ benign neoplasm
subclass of: vascular disease
database_cross_reference: ICD10CM:D18.0
database_cross_reference: UMLS_CUI:C0018916
database_cross_reference: MESH:D006391
database_cross_reference: ICD9CM:228.00
has_obo_namespace: disease_ontology
id: DOID:255
database_cross_reference: SNOMEDCT_US_2020_03_01:154625006
database_cross_reference: NCI:C3085
definition: A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood.
in_subset: NCIthesaurus
imported from: doid.owl

relapsing polychondritis
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: chondromalacia
database_cross_reference: SNOMEDCT_US_2020_03_01:72275000
database_cross_reference: GARD:7417
has_exact_synonym: Chondromalacia, systemic
database_cross_reference: MESH:D011081
database_cross_reference: UMLS_CUI:C0032453
definition: A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.
has_obo_namespace: disease_ontology
id: DOID:2556
database_cross_reference: ICD10CM:M94.1
database_cross_reference: NCI:C157268
imported from: doid.owl

chondromalacia
type: Class
subclass of: articular cartilage disease
has_obo_namespace: disease_ontology
id: DOID:2557
database_cross_reference: ICD9CM:733.92
database_cross_reference: MESH:D002357
database_cross_reference: ICD10CM:M94.2
database_cross_reference: UMLS_CUI:C0085700
database_cross_reference: SNOMEDCT_US_2020_03_01:63198006
definition: A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint.
imported from: doid.owl

opiate dependence
type: Class
subclass of: drug dependence
database_cross_reference: MESH:D009293
database_cross_reference: UMLS_CUI:C0524662
database_cross_reference: ICD9CM:304.00
database_cross_reference: ICD10CM:F11.2
has_obo_namespace: disease_ontology
id: DOID:2559
database_cross_reference: SNOMEDCT_US_2020_03_01:75544000
definition: A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.
has_exact_synonym: Opioid type dependence
imported from: doid.owl

morphine dependence
type: Class
subclass of: opiate dependence
id: DOID:2560
database_cross_reference: UMLS_CUI:C0026552
database_cross_reference: MESH:D009021
definition: An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:286934009
imported from: doid.owl

macular corneal dystrophy
type: Class
subclass of: stromal dystrophy
database_cross_reference: SNOMEDCT_US_2020_03_01:60258001
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0024439
id: DOID:2565
database_cross_reference: NCI:C34793
database_cross_reference: ICD10CM:H18.55
database_cross_reference: MESH:D003317
definition: A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
has_exact_synonym: Fehr corneal dystrophy
database_cross_reference: OMIM:217800
database_cross_reference: ICD9CM:371.55
has_exact_synonym: MACULAR DYSTROPHY, CORNEAL, 1
in_subset: NCIthesaurus
imported from: doid.owl

corneal dystrophy
type: Class
subclass of: corneal disease
database_cross_reference: ICD9CM:371.5
database_cross_reference: ICD10CM:H18.5
database_cross_reference: UMLS_CUI:C0010035
database_cross_reference: NCI:C34513
database_cross_reference: NCI:C34512
database_cross_reference: UMLS_CUI:C0010036
database_cross_reference: SNOMEDCT_US_2020_03_01:5587004
database_cross_reference: MESH:D003317
id: DOID:2566
database_cross_reference: SNOMEDCT_US_2020_03_01:77797009
has_obo_namespace: disease_ontology
has_alternative_id: DOID:8944
in_subset: NCIthesaurus
imported from: doid.owl

cervicitis
type: Class
subclass of: cervix disease
database_cross_reference: ICD10CM:N72
database_cross_reference: NCI:C26716
id: DOID:2568
database_cross_reference: SNOMEDCT_US_2020_03_01:198199009
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002575
database_cross_reference: ICD9CM:616.0
database_cross_reference: UMLS_CUI:C0007860
database_cross_reference: UMLS_CUI:C0007861
database_cross_reference: SNOMEDCT_US_2020_03_01:237081003
definition: A cervix disease that is characterized by inflammation of the cervix.
has_alternative_id: DOID:10110
in_subset: NCIthesaurus
imported from: doid.owl

retinal drusen
type: Class
subclass of: degeneration of macula and posterior pole
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:2569
database_cross_reference: MESH:D015593
database_cross_reference: UMLS_CUI:C0035312
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:141199000
database_cross_reference: ICD9CM:362.57
imported from: doid.owl

Langerhans-cell histiocytosis
type: Class
subclass of: histiocytosis
database_cross_reference: ICD10CM:C96.6
database_cross_reference: ICD10CM:C96.0
database_cross_reference: NCI:C3160
database_cross_reference: OMIM:604856
database_cross_reference: OMIM:246400
has_alternative_id: DOID:10623
has_alternative_id: DOID:10625
has_alternative_id: DOID:10624
database_cross_reference: MESH:C538636
definition: A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
database_cross_reference: UMLS_CUI:C0019621
id: DOID:2571
database_cross_reference: ICD9CM:202.5
database_cross_reference: NCI:C3107
database_cross_reference: SNOMEDCT_US_2020_03_01:154583006
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:234439008
database_cross_reference: UMLS_CUI:C0023381
has_alternative_id: DOID:10620
has_alternative_id: DOID:2554
has_alternative_id: DOID:2553
has_obo_namespace: disease_ontology
has_alternative_id: DOID:9582
database_cross_reference: MESH:D006646
has_alternative_id: DOID:10618
has_alternative_id: DOID:10617
has_exact_synonym: Histiocytosis X
has_exact_synonym: Langerhan's cell histiocytosis
has_exact_synonym: Langerhans cell granulomatosis
has_exact_synonym: Letterer-Siwe disease
has_exact_synonym: Letterer-Siwe disease involving intra-abdominal lymph nodes
has_exact_synonym: Letterer-Siwe disease involving intrapelvic lymph nodes
has_exact_synonym: Letterer-Siwe disease involving intrathoracic lymph nodes
has_exact_synonym: Letterer-Siwe disease involving lymph nodes of axilla and upper limb
has_exact_synonym: Letterer-Siwe disease involving lymph nodes of head, face and neck
has_exact_synonym: Letterer-Siwe disease involving lymph nodes of head, face, and neck
has_exact_synonym: Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb
has_exact_synonym: Letterer-Siwe disease involving lymph nodes of multiple sites
has_exact_synonym: Letterer-Siwe disease involving spleen
has_exact_synonym: Letterer-Siwe disease of intra-abdominal lymph nodes
has_exact_synonym: Letterer-Siwe disease of intrapelvic lymph nodes
has_exact_synonym: Letterer-Siwe disease of intrathoracic lymph nodes
has_exact_synonym: Letterer-Siwe disease of lymph nodes of axilla and upper limb
has_exact_synonym: Letterer-Siwe disease of lymph nodes of axilla and/or upper limb
has_exact_synonym: Letterer-Siwe disease of lymph nodes of head, face and neck
has_exact_synonym: Letterer-Siwe disease of lymph nodes of head, face and/or neck
has_exact_synonym: Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb
has_exact_synonym: Letterer-Siwe disease of lymph nodes of inguinal region and lower limb
has_exact_synonym: Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb
has_exact_synonym: Letterer-Siwe disease of lymph nodes of multiple sites
has_exact_synonym: Letterer-Siwe disease of spleen
in_subset: NCIthesaurus
imported from: doid.owl

barbiturate dependence
type: Class
subclass of: drug dependence
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154482
database_cross_reference: ICD9CM:304.11
id: DOID:2575
definition: A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.
imported from: doid.owl

rhizomelic chondrodysplasia punctata
type: Class
subclass of: autosomal recessive disease
subclass of: chondrodysplasia punctata
database_cross_reference: ICD10CM:E71.540
definition: A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
id: DOID:2580
database_cross_reference: UMLS_CUI:C0282529
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:56692003
database_cross_reference: MESH:D018902
has_exact_synonym: Chondrodysplasia Punctata, Rhizomelic Form
database_cross_reference: OMIM:PS215100
database_cross_reference: GARD:13160
database_cross_reference: ORDO:177
database_cross_reference: NCI:C85047
has_obo_namespace: disease_ontology
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

chondrodysplasia punctata
type: Class
subclass of: monogenic disease
subclass of: syndrome
database_cross_reference: ORDO:93442
has narrower match: MESH:D002806
has_obo_namespace: disease_ontology
id: DOID:2581
database_cross_reference: OMIM:215105
database_cross_reference: SNOMEDCT_US_2020_03_01:205486004
database_cross_reference: UMLS_CUI:C0008445
comment: DeObs MGI.
database_cross_reference: ICD10CM:Q77.3
database_cross_reference: GARD:8542
definition: A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
has_exact_synonym: Chondrodysplasia punctata congenita
database_cross_reference: NCI:C84632
database_cross_reference: MESH:D002806
in_subset: NCIthesaurus
imported from: doid.owl

acatalasia
type: Class
subclass of: peroxisomal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:190954001
database_cross_reference: GARD:363
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:614097
id: DOID:2582
database_cross_reference: UMLS_CUI:C0268419
database_cross_reference: MESH:D020642
database_cross_reference: NCI:C84526
has_exact_synonym: deficiency of catalase
in_subset: NCIthesaurus
imported from: doid.owl

agammaglobulinemia
type: Class
subclass of: B cell deficiency
database_cross_reference: UMLS_CUI:C0086438
database_cross_reference: OMIM:613500
database_cross_reference: OMIM:613501
has_alternative_id: DOID:618
database_cross_reference: NCI:C26931
id: DOID:2583
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:PS601495
database_cross_reference: OMIM:615214
database_cross_reference: SNOMEDCT_US_2020_03_01:267512002
database_cross_reference: ICD9CM:279.00
database_cross_reference: OMIM:612692
definition: A B cell deficiency that is caused by a reduction in all types of gamma globulins.
database_cross_reference: ICD10CM:D80.1
has_exact_synonym: IGHM
database_cross_reference: MESH:D000361
database_cross_reference: UMLS_CUI:C0001768
database_cross_reference: OMIM:601495
database_cross_reference: SNOMEDCT_US_2020_03_01:119250001
has_exact_synonym: hypogammaglobulinemia
has_exact_synonym: mu heavy chain deficiency
in_subset: NCIthesaurus
imported from: doid.owl

glottis cancer
type: Class
subclass of: larynx cancer
database_cross_reference: ICD10CM:C32.0
database_cross_reference: ICD9CM:161.0
has_exact_synonym: Ca larynx - glottis
has_obo_namespace: disease_ontology
id: DOID:2595
database_cross_reference: UMLS_CUI:C0153483
database_cross_reference: NCI:C3544
database_cross_reference: SNOMEDCT_US_2020_03_01:187841006
has_exact_synonym: malignant tumor of glottis
has_exact_synonym: malignant tumor of the Glottis
in_subset: NCIthesaurus
imported from: doid.owl

larynx cancer
type: Class
subclass of: respiratory system cancer
subclass of: laryngeal disease
database_cross_reference: MESH:D007822
database_cross_reference: SNOMEDCT_US_2020_03_01:93859007
database_cross_reference: ICD10CM:C32
id: DOID:2596
database_cross_reference: UMLS_CUI:C0007107
database_cross_reference: NCI:C7484
definition: A respiratory system cancer that is located_in the larynx.
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6862
database_cross_reference: ICD9CM:161
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

laryngeal benign neoplasm
type: Class
subclass of: respiratory system benign neoplasm
subclass of: laryngeal disease
database_cross_reference: UMLS_CUI:C0023055
has_obo_namespace: disease_ontology
id: DOID:2598
database_cross_reference: MESH:D007822
database_cross_reference: NCI:C3156
database_cross_reference: SNOMEDCT_US_2020_03_01:126692004
has_exact_synonym: laryngeal tumor
has_exact_synonym: larynx neoplasm
has_exact_synonym: neoplasm of larynx
in_subset: NCIthesaurus
imported from: doid.owl

glottis carcinoma
type: Class
subclass of: glottis cancer
subclass of: carcinoma
database_cross_reference: UMLS_CUI:C0740083
database_cross_reference: SNOMEDCT_US_2020_03_01:372103002
id: DOID:2599
database_cross_reference: NCI:C4923
has_obo_namespace: disease_ontology
has_exact_synonym: Glottic carcinoma
has_exact_synonym: carcinoma of glottis
in_subset: NCIthesaurus
imported from: doid.owl

pancreas disease
type: Class
subclass of: endocrine system disease
database_cross_reference: ICD10CM:K86.8
definition: An endocrine system disease that is located_in the pancreas.
database_cross_reference: ICD9CM:577.8
database_cross_reference: SNOMEDCT_US_2020_03_01:197566002
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029771
id: DOID:26
imported from: doid.owl

laryngeal carcinoma
type: Class
subclass of: larynx cancer
subclass of: carcinoma
database_cross_reference: NCI:C4855
id: DOID:2600
database_cross_reference: SNOMEDCT_US_2020_03_01:154480006
has_obo_namespace: disease_ontology
definition: A larynx cancer that has_material_basis_in epithelial cells.
database_cross_reference: UMLS_CUI:C0595989
has_exact_synonym: cancer of Larynx
has_exact_synonym: cancer of larynx
has_exact_synonym: carcinoma of larynx
in_subset: NCIthesaurus
imported from: doid.owl

chondroma
type: Class
subclass of: cell type benign neoplasm
definition: A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
database_cross_reference: UMLS_CUI:C0936248
database_cross_reference: NCI:C53459
id: DOID:2602
database_cross_reference: MESH:D002812
database_cross_reference: SNOMEDCT_US_2020_03_01:269638002
database_cross_reference: GARD:6052
has_exact_synonym: central Chondroma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

papilloma
type: Class
subclass of: cell type benign neoplasm
has_alternative_id: DOID:1635
id: DOID:2615
database_cross_reference: SNOMEDCT_US_2020_03_01:82049002
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3713
database_cross_reference: SNOMEDCT_US_2020_03_01:711329002
definition: A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue.
database_cross_reference: NCI:C7440
database_cross_reference: UMLS_CUI:C0030354
database_cross_reference: UMLS_CUI:C0205875
database_cross_reference: MESH:D010212
has_exact_synonym: papillomatosis
in_subset: NCIthesaurus
imported from: doid.owl

kidney hemangiopericytoma
type: Class
subclass of: kidney cancer
database_cross_reference: NCI:C4527
id: DOID:262
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:254923001
database_cross_reference: UMLS_CUI:C0346256
definition: A kidney cancer which is manifested in the kidney.
has_exact_synonym: hemangiopericytoma of kidney
has_exact_synonym: renal hemangiopericytoma
in_subset: NCIthesaurus
imported from: doid.owl

autonomic nervous system neoplasm
type: Class
subclass of: peripheral nervous system neoplasm
database_cross_reference: UMLS_CUI:C1332356
id: DOID:2621
definition: A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5112
has_exact_synonym: tumor of Autonomic nervous system
in_subset: NCIthesaurus
imported from: doid.owl

choroid plexus papilloma
type: Class
subclass of: papilloma
subclass of: cerebrovascular benign neoplasm
database_cross_reference: UMLS_CUI:C1332963
database_cross_reference: OMIM:260500
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3698
database_cross_reference: NCI:C5800
id: DOID:2626
has_alternative_id: DOID:3661
database_cross_reference: UMLS_CUI:C0205770
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:18021007
database_cross_reference: MESH:D020288
database_cross_reference: GARD:4214
has_exact_synonym: childhood choroid plexus papilloma
in_subset: NCIthesaurus
imported from: doid.owl

kidney cancer
type: Class
subclass of: urinary system cancer
subclass of: kidney disease
database_cross_reference: NCI:C120456
database_cross_reference: NCI:C3150
database_cross_reference: ICD9CM:189.0
database_cross_reference: UMLS_CUI:C0740457
id: DOID:263
database_cross_reference: SNOMEDCT_US_2020_03_01:126880001
database_cross_reference: SNOMEDCT_US_2020_03_01:93849006
database_cross_reference: UMLS_CUI:C0022665
definition: A urinary system cancer that is located_in the kidney.
database_cross_reference: MESH:D007680
has_alternative_id: DOID:11834
database_cross_reference: UMLS_CUI:C0494158
has_alternative_id: DOID:3676
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7548
database_cross_reference: ICD10CM:C64
has_exact_synonym: malignant neoplasm of kidney except pelvis
has_exact_synonym: malignant tumour of kidney
has_exact_synonym: renal cancer
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

cystadenoma
type: Class
subclass of: adenoma
has_exact_synonym: Cystoma
database_cross_reference: NCI:C2972
database_cross_reference: MESH:D003537
id: DOID:2634
database_cross_reference: UMLS_CUI:C0010633
database_cross_reference: SNOMEDCT_US_2020_03_01:189680006
has_obo_namespace: disease_ontology
definition: An adenoma that forms a cyst.
has_exact_synonym: Cystadenoma
in_subset: NCIthesaurus
imported from: doid.owl

ovarian Brenner tumor
type: Class
subclass of: ovarian benign neoplasm
definition: An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
database_cross_reference: SNOMEDCT_US_2020_03_01:74739000
database_cross_reference: NCI:C39954
database_cross_reference: GARD:9397
id: DOID:2636
database_cross_reference: MESH:D001948
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0006160
has_exact_synonym: benign ovarian Brenner tumor
has_exact_synonym: benign ovarian Brenner tumour
has_exact_synonym: ovarian Brenner tumour
in_subset: NCIthesaurus
imported from: doid.owl

breast pericanalicular fibroadenoma
type: Class
subclass of: breast fibroadenoma
database_cross_reference: UMLS_CUI:C0334497
id: DOID:2639
has_obo_namespace: disease_ontology
definition: A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.
has_exact_synonym: Pericanalicular Fibroadenoma of breast
has_exact_synonym: Pericanalicular fibroadenoma
database_cross_reference: SNOMEDCT_US_2020_03_01:41382006
database_cross_reference: NCI:C4272
in_subset: NCIthesaurus
imported from: doid.owl

hemangiopericytoma
type: Class
subclass of: connective tissue cancer
database_cross_reference: GARD:2627
has_alternative_id: DOID:5372
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3087
database_cross_reference: SNOMEDCT_US_2020_03_01:134335004
database_cross_reference: MESH:D006393
id: DOID:264
has_exact_synonym: Haemangiopericytic meningioma
database_cross_reference: UMLS_CUI:C0018922
definition: A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.
has_exact_synonym: hemangiopericytoma, malignant
has_exact_synonym: malignant hemangiopericytoma
in_subset: NCIthesaurus
imported from: doid.owl

struma ovarii
type: Class
subclass of: ovarian germ cell monodermal and highly specialized teratoma
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013330
database_cross_reference: UMLS_CUI:C0038478
definition: An ovarian germ cell monodermal and highly specialized teratoma that is composed either exclusively or predominantly of thyroid tissue.
database_cross_reference: SNOMEDCT_US_2020_03_01:24327009
database_cross_reference: NCI:C7468
id: DOID:2640
has_exact_synonym: Struma ovarii
in_subset: NCIthesaurus
imported from: doid.owl

ovarian germ cell monodermal and highly specialized teratoma
type: Class
subclass of: monodermal teratoma
database_cross_reference: UMLS_CUI:C0280134
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C8113
definition: A monodermal teratoma that has_material_basis in germ cells that are highly specialized and is located_in the ovary.
id: DOID:2641
has_exact_synonym: Ovarian Monodermal and Highly Specialized teratoma
in_subset: NCIthesaurus
imported from: doid.owl

perivascular epithelioid cell tumor
type: Class
subclass of: perivascular tumor
database_cross_reference: NCI:C38150
id: DOID:2643
database_cross_reference: SNOMEDCT_US_2020_03_01:388601000
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1300127
database_cross_reference: MESH:D054973
has_exact_synonym: PEComa
has_exact_synonym: neoplasm with Perivascular epithelioid cell differentiation
in_subset: NCIthesaurus
imported from: doid.owl

benign mesothelioma
type: Class
subclass of: angiomyolipoma
definition: A cell type benign neoplasm that has_material_basis_in mesothelium.
database_cross_reference: SNOMEDCT_US_2020_03_01:154491004
database_cross_reference: ICD10CM:C45
database_cross_reference: MESH:D008654
id: DOID:2645
database_cross_reference: NCI:C3234
has_obo_namespace: disease_ontology
has_alternative_id: DOID:2644
database_cross_reference: UMLS_CUI:C0025500
has_exact_synonym: benign tumor of Mesothelium
in_subset: NCIthesaurus
imported from: doid.owl

parachordoma
type: Class
subclass of: mesenchymal cell neoplasm
database_cross_reference: UMLS_CUI:C1266175
has_obo_namespace: disease_ontology
id: DOID:2647
database_cross_reference: SNOMEDCT_US_2020_03_01:404086000
database_cross_reference: NCI:C6581
in_subset: NCIthesaurus
imported from: doid.owl

sebaceous adenoma
type: Class
subclass of: sebaceous gland neoplasm
has_obo_namespace: disease_ontology
id: DOID:2648
database_cross_reference: NCI:C4174
database_cross_reference: UMLS_CUI:C1368816
has_alternative_id: DOID:7387
database_cross_reference: SNOMEDCT_US_2020_03_01:78424008
has_exact_synonym: Sebaceous adenoma
has_exact_synonym: adenoma of the Sebaceous gland
has_exact_synonym: skin appendage sebaceous adenoma
in_subset: NCIthesaurus
imported from: doid.owl

chondroblastoma
type: Class
subclass of: cell type benign neoplasm
subclass of: connective tissue benign neoplasm
database_cross_reference: UMLS_CUI:C0008441
database_cross_reference: SNOMEDCT_US_2020_03_01:9001003
database_cross_reference: MESH:D002804
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2945
id: DOID:2649
database_cross_reference: GARD:6047
definition: A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints.
has_exact_synonym: Chondroblastoma of bone
in_subset: NCIthesaurus
imported from: doid.owl

dermoid cyst
type: Class
subclass of: cystic teratoma
database_cross_reference: MESH:D003884
database_cross_reference: NCI:C9011
database_cross_reference: SNOMEDCT_US_2020_03_01:189117002
definition: A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
has_exact_synonym: Dermoid tumour
has_exact_synonym: Mature cystic teratoma
database_cross_reference: UMLS_CUI:C0011649
has_exact_synonym: cystic dermoid choristoma
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K09.8
id: DOID:2658
has_exact_synonym: Dermoid choristoma
has_exact_synonym: teratoma, benign
in_subset: NCIthesaurus
imported from: doid.owl

cystic teratoma
type: Class
subclass of: benign teratoma
id: DOID:2660
definition: A benign teratoma that is characterized by the presence of cysts or cystic spaces.
database_cross_reference: UMLS_CUI:C1368903
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:42717009
database_cross_reference: NCI:C9014
in_subset: NCIthesaurus
imported from: doid.owl

myoepithelioma
type: Class
subclass of: sweat gland benign neoplasm
database_cross_reference: UMLS_CUI:C0027070
database_cross_reference: MESH:D009208
id: DOID:2661
definition: A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
has_exact_synonym: Myoepithelial neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C40392
database_cross_reference: SNOMEDCT_US_2020_03_01:69291002
has_exact_synonym: Myoepithelial adenoma
has_exact_synonym: benign myoepithelioma
in_subset: NCIthesaurus
imported from: doid.owl

sweat gland benign neoplasm
type: Class
subclass of: sweat gland disease
subclass of: skin benign neoplasm
database_cross_reference: NCI:C3398
database_cross_reference: SNOMEDCT_US_2020_03_01:126490003
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013544
id: DOID:2664
has_exact_synonym: Sweat gland tumor
database_cross_reference: UMLS_CUI:C0038987
has_exact_synonym: neoplasm of sweat gland
has_exact_synonym: tumor of the Sweat gland
in_subset: NCIthesaurus
imported from: doid.owl

mesenchymoma
type: Class
subclass of: connective tissue cancer
has_obo_namespace: disease_ontology
id: DOID:2668
database_cross_reference: MESH:D008637
database_cross_reference: NCI:C3233
database_cross_reference: UMLS_CUI:C0025464
database_cross_reference: SNOMEDCT_US_2020_03_01:44524009
in_subset: NCIthesaurus
imported from: doid.owl

transitional cell carcinoma
type: Class
subclass of: carcinoma
database_cross_reference: NCI:C6783
id: DOID:2671
database_cross_reference: SNOMEDCT_US_2020_03_01:118287003
has_obo_namespace: disease_ontology
definition: A carcinoma that derives_from transitional epithelial cells.
has_alternative_id: DOID:3995
database_cross_reference: MESH:D002295
database_cross_reference: SNOMEDCT_US_2020_03_01:27090000
database_cross_reference: UMLS_CUI:C0007138
database_cross_reference: GARD:7794
database_cross_reference: NCI:C2930
database_cross_reference: UMLS_CUI:C0334265
has_exact_synonym: transitional carcinoma
has_related_synonym: transitional cell neoplasm
has_exact_synonym: transitional cell tumor
has_exact_synonym: urothelial cell carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

adult cystic nephroma
type: Class
subclass of: nephroma
has_exact_synonym: multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour
definition: A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium.
id: DOID:2673
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7504
imported from: doid.owl

dysembryoplastic neuroepithelial tumor
type: Class
subclass of: central nervous system benign neoplasm
database_cross_reference: UMLS_CUI:C1266177
has_exact_synonym: Dysembryoplastic Neuroepithelial neoplasm
has_exact_synonym: Dysembryoplastic neuroepithelial tumor
database_cross_reference: GARD:10640
has_obo_namespace: disease_ontology
id: DOID:2679
database_cross_reference: NCI:C9505
database_cross_reference: SNOMEDCT_US_2020_03_01:87211000119104
has_exact_synonym: Dysembryoplastic neuroepithelial tumour
has_exact_synonym: dysembryoplastic neuroepithelial tumour
in_subset: NCIthesaurus
imported from: doid.owl

adenofibroma
type: Class
subclass of: cell type benign neoplasm
definition: A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands.
database_cross_reference: UMLS_CUI:C0001422
database_cross_reference: MESH:D000232
id: DOID:2683
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:189823009
imported from: doid.owl

ossifying fibromyxoid tumor
type: Class
subclass of: mesenchymal cell neoplasm
has_exact_synonym: Ossifying Fibromyxoma
has_exact_synonym: Ossifying fibromyxoid tumor
has_exact_synonym: Ossifying fibromyxoid tumour
database_cross_reference: SNOMEDCT_US_2020_03_01:404076001
database_cross_reference: UMLS_CUI:C1266128
database_cross_reference: NCI:C6582
has_obo_namespace: disease_ontology
id: DOID:2685
has_exact_synonym: ossifying fibromyxoid tumour
in_subset: NCIthesaurus
imported from: doid.owl

lymphangiosarcoma
type: Class
subclass of: lymphatic system cancer
has_exact_synonym: Lymphangiosarcoma of Stewart and Treves
database_cross_reference: SNOMEDCT_US_2020_03_01:403986008
database_cross_reference: SNOMEDCT_US_2020_03_01:62497000
database_cross_reference: UMLS_CUI:C0346082
definition: A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels.
database_cross_reference: MESH:D008204
database_cross_reference: NCI:C3205
has_obo_namespace: disease_ontology
id: DOID:2689
database_cross_reference: NCI:C4490
database_cross_reference: UMLS_CUI:C0024224
database_cross_reference: MESH:C537491
has_alternative_id: DOID:2686
has_exact_synonym: Stewart-Treves syndrome
has_exact_synonym: malignant Lymphangioendothelioma
has_exact_synonym: skin lymphangiosarcoma
in_subset: NCIthesaurus
imported from: doid.owl

myoma
type: Class
subclass of: uterine benign neoplasm
subclass of: muscle benign neoplasm
definition: A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
database_cross_reference: UMLS_CUI:C0027086
database_cross_reference: NCI:C4882
id: DOID:2691
database_cross_reference: ICD10CM:D21
database_cross_reference: MESH:D009214
has_exact_synonym: benign neoplasm of the Muscle
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:66357004
in_subset: NCIthesaurus
imported from: doid.owl

Leydig cell tumor
type: Class
subclass of: sex cord-gonadal stromal tumor
has_alternative_id: DOID:0050616
database_cross_reference: SNOMEDCT_US_2020_03_01:45002009
database_cross_reference: MESH:D007984
definition: A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.
id: DOID:2696
has_exact_synonym: Leydig cell neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:77870005
database_cross_reference: UMLS_CUI:C0334410
database_cross_reference: NCI:C3188
database_cross_reference: UMLS_CUI:C0023601
database_cross_reference: NCI:C4213
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

renal adenoma
type: Class
subclass of: kidney benign neoplasm
subclass of: adenoma
database_cross_reference: NCI:C8383
database_cross_reference: SNOMEDCT_US_2020_03_01:41627005
id: DOID:2697
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0334684
has_exact_synonym: renal cell adenoma
in_subset: NCIthesaurus
imported from: doid.owl

nephrogenic adenofibroma
type: Class
subclass of: kidney benign neoplasm
database_cross_reference: NCI:C39812
database_cross_reference: SNOMEDCT_US_2020_03_01:128760004
has_exact_synonym: Metanephric adenofibroma
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1266141
id: DOID:2698
in_subset: NCIthesaurus
imported from: doid.owl

liver sarcoma
type: Class
subclass of: liver cancer
definition: A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.
database_cross_reference: SNOMEDCT_US_2020_03_01:254601002
id: DOID:270
database_cross_reference: UMLS_CUI:C0345906
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4437
has_exact_synonym: hepatic sarcoma
in_subset: NCIthesaurus
imported from: doid.owl

nodular tenosynovitis
type: Class
subclass of: connective tissue benign neoplasm
id: DOID:2701
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000070779
has_alternative_id: DOID:2665
database_cross_reference: SNOMEDCT_US_2020_03_01:71508003
database_cross_reference: NCI:C6532
database_cross_reference: SNOMEDCT_US_2020_03_01:5178002
has_exact_synonym: Synovioma, benign
database_cross_reference: UMLS_CUI:C0588125
database_cross_reference: NCI:C3829
database_cross_reference: UMLS_CUI:C0221289
has_exact_synonym: benign synovioma
has_exact_synonym: benign tumor of Synovium
has_exact_synonym: localized Giant cell tumor of Tenosynovium
in_subset: NCIthesaurus
imported from: doid.owl

pigmented villonodular synovitis
type: Class
subclass of: synovitis
database_cross_reference: MESH:D013586
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7396
database_cross_reference: SNOMEDCT_US_2020_03_01:202903009
database_cross_reference: ICD10CM:M12.2
id: DOID:2702
database_cross_reference: UMLS_CUI:C0039106
has_exact_synonym: Diffuse Giant cell tumor of Tenosynovium
database_cross_reference: NCI:C3401
has_exact_synonym: villous tenosynovitis
in_subset: NCIthesaurus
imported from: doid.owl

synovitis
type: Class
subclass of: connective tissue disease
database_cross_reference: SNOMEDCT_US_2020_03_01:268092005
database_cross_reference: NCI:C50766
database_cross_reference: GARD:7722
database_cross_reference: MESH:D013585
id: DOID:2703
definition: A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
database_cross_reference: UMLS_CUI:C0039103
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

synovium cancer
type: Class
subclass of: connective tissue cancer
id: DOID:2706
database_cross_reference: UMLS_CUI:C1334624
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6531
has_exact_synonym: malignant tumor of Synovium
in_subset: NCIthesaurus
imported from: doid.owl

sick building syndrome
type: Class
subclass of: extrinsic allergic alveolitis
definition: An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building.
database_cross_reference: UMLS_CUI:C0037050
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018877
database_cross_reference: SNOMEDCT_US_2020_03_01:19076009
id: DOID:2710
imported from: doid.owl

phimosis
type: Class
subclass of: penile disease
has_obo_namespace: disease_ontology
id: DOID:2712
database_cross_reference: UMLS_CUI:C0031538
database_cross_reference: ICD10CM:N47.1
database_cross_reference: SNOMEDCT_US_2020_03_01:449826002
database_cross_reference: NCI:C26852
database_cross_reference: MESH:D010688
has_exact_synonym: Tight foreskin
has_exact_synonym: Tight frenulum
in_subset: NCIthesaurus
imported from: doid.owl

Bloom syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: NCI:C2903
has_obo_namespace: disease_ontology
id: DOID:2717
database_cross_reference: OMIM:210900
database_cross_reference: SNOMEDCT_US_2020_03_01:4434006
database_cross_reference: ORDO:125
database_cross_reference: MESH:D001816
database_cross_reference: UMLS_CUI:C0005859
comment: OMIM mapping confirmed by DO. [SN].
definition: A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
has_exact_synonym: Bloom-Torre-Machacek syndrome
has_exact_synonym: Congenital Telangiectatic Erythema syndrome
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hemopneumothorax
type: Class
subclass of: pneumothorax
database_cross_reference: SNOMEDCT_US_2020_03_01:16632002
id: DOID:2718
definition: A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity.
database_cross_reference: MESH:D006468
has_exact_synonym: haemopneumothorax
database_cross_reference: ICD10CM:J94.2
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0019077
imported from: doid.owl

hepatic vascular disease
type: Class
subclass of: vascular disease
subclass of: liver disease
database_cross_reference: UMLS_CUI:C0400923
id: DOID:272
definition: A vascular disease that is located_in the liver.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35442
database_cross_reference: SNOMEDCT_US_2020_03_01:235878005
has_exact_synonym: vascular disorder of liver
in_subset: NCIthesaurus
imported from: doid.owl

acrodermatitis
type: Class
subclass of: dermatitis
database_cross_reference: MESH:D000169
definition: A dermatitis that selectively affects the hands and feet.
database_cross_reference: NCI:C84532
has_obo_namespace: disease_ontology
id: DOID:2722
database_cross_reference: SNOMEDCT_US_2020_03_01:8197001
database_cross_reference: UMLS_CUI:C0001197
database_cross_reference: GARD:5722
in_subset: NCIthesaurus
imported from: doid.owl

dermatitis
type: Class
subclass of: skin disease
has_obo_namespace: disease_ontology
has_alternative_id: DOID:8614
has_alternative_id: DOID:8917
id: DOID:2723
database_cross_reference: NCI:C2983
database_cross_reference: SNOMEDCT_US_2020_03_01:238538009
database_cross_reference: MESH:D003872
database_cross_reference: ICD10CM:L30.9
definition: A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
database_cross_reference: UMLS_CUI:C0011603
has_exact_synonym: eczema
has_exact_synonym: skin inflammation
in_subset: NCIthesaurus
imported from: doid.owl

capillary hemangioma
type: Class
subclass of: capillary disease
database_cross_reference: ICD10CM:Q82.5
database_cross_reference: NCI:C7457
database_cross_reference: SNOMEDCT_US_2020_03_01:56975005
database_cross_reference: UMLS_CUI:C0206733
database_cross_reference: MESH:D018324
id: DOID:2725
has_obo_namespace: disease_ontology
has_exact_synonym: Capillary hemangioma
has_exact_synonym: Congenital vascular hamartoma
has_exact_synonym: Congenital vascular naevus
has_exact_synonym: Infantile hemangioma
has_exact_synonym: Juvenile hemangioma
has_exact_synonym: Strawberry haemangioma
has_exact_synonym: Strawberry nevus
has_exact_synonym: Strawberry nevus of skin
has_exact_synonym: cellular hemangioma of Infancy
in_subset: NCIthesaurus
imported from: doid.owl

dyskeratosis congenita
type: Class
subclass of: skin disease
database_cross_reference: OMIM:PS127550
database_cross_reference: NCI:C111802
id: DOID:2729
definition: A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
database_cross_reference: ORDO:1775
comment: Xref MGI. OMIM mapping by NeuroDevNet. [LS].
database_cross_reference: SNOMEDCT_US_2020_03_01:74911008
database_cross_reference: MESH:D019871
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0265965
database_cross_reference: GARD:10905
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

epidermolysis bullosa
type: Class
subclass of: vesiculobullous skin disease
database_cross_reference: UMLS_CUI:C0014527
definition: A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
id: DOID:2730
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:Q81
database_cross_reference: GARD:6359
database_cross_reference: SNOMEDCT_US_2020_03_01:205580008
has_exact_synonym: Epidermolysis bullosa
database_cross_reference: NCI:C67383
database_cross_reference: MESH:D004820
has_exact_synonym: acantholysis bullosa
in_subset: NCIthesaurus
imported from: doid.owl

vesiculobullous skin disease
type: Class
subclass of: skin disease
database_cross_reference: UMLS_CUI:C0037275
definition: A skin disease that is characterized by fluid filled blisters.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D012872
id: DOID:2731
imported from: doid.owl

Rothmund-Thomson syndrome
type: Class
subclass of: skin disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q82.8
database_cross_reference: MESH:D011038
database_cross_reference: SNOMEDCT_US_2020_03_01:205572001
database_cross_reference: OMIM:268400
database_cross_reference: UMLS_CUI:C0032339
has_obo_namespace: disease_ontology
id: DOID:2732
has_exact_synonym: Congenital poikiloderma
database_cross_reference: GARD:4392
database_cross_reference: NCI:C3335
has_exact_synonym: RTS
in_subset: NCIthesaurus
imported from: doid.owl

skin atrophy
type: Class
subclass of: skin disease
database_cross_reference: ICD10CM:L90
has_exact_synonym: Atrophoderma
database_cross_reference: UMLS_CUI:C0151514
id: DOID:2733
database_cross_reference: NCI:C35163
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:16343004
has_exact_synonym: Atrophy - skin
has_exact_synonym: atrophic condition of skin
in_subset: NCIthesaurus
imported from: doid.owl

keratosis follicularis
type: Class
subclass of: keratosis
database_cross_reference: SNOMEDCT_US_2020_03_01:157017000
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E50.8
database_cross_reference: NCI:C84665
id: DOID:2734
has_exact_synonym: DARIER-WHITE DISEASE
has_exact_synonym: Darier's disease
has_exact_synonym: Keratosis follicularis
database_cross_reference: OMIM:124200
database_cross_reference: UMLS_CUI:C0022595
database_cross_reference: MESH:D007644
comment: OMIM mapping confirmed by DO. [SN].
in_subset: NCIthesaurus
imported from: doid.owl

Hajdu-Cheney syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: bone disease
database_cross_reference: NCI:C35545
database_cross_reference: MESH:D030981
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:63122002
database_cross_reference: NCI:C84745
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:102500
database_cross_reference: GARD:508
database_cross_reference: MESH:D031845
database_cross_reference: UMLS_CUI:C0917990
definition: A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12.
database_cross_reference: UMLS_CUI:C0917715
id: DOID:2736
has_exact_synonym: Cheney syndrome
has_alternative_id: DOID:2735
has_exact_synonym: HJCYS
has_exact_synonym: SFPKS
has_exact_synonym: acroosteolysis with osteoporosis and changes in skull and mandible
has_exact_synonym: arthrodentoosteodysplasia
has_exact_synonym: serpentine fibula-polycystic kidney syndrome
in_subset: NCIthesaurus
imported from: doid.owl

pseudoxanthoma elasticum
type: Class
subclass of: autosomal recessive disease
subclass of: connective tissue disease
definition: A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
database_cross_reference: ORDO:758
database_cross_reference: GARD:9643
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C85036
database_cross_reference: OMIM:177850
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:264800
database_cross_reference: SNOMEDCT_US_2020_03_01:7109007
id: DOID:2738
database_cross_reference: UMLS_CUI:C0033847
has_exact_synonym: Gronblad-Strandberg syndrome
database_cross_reference: MESH:D011561
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Gilbert syndrome
type: Class
subclass of: bilirubin metabolic disorder
has_obo_namespace: disease_ontology
definition: A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
database_cross_reference: GARD:6507
database_cross_reference: NCI:C84729
id: DOID:2739
database_cross_reference: ICD10CM:E80.4
has_exact_synonym: Constitutional hyperbilirubinemia
has_exact_synonym: Gilbert's disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:143500
has_exact_synonym: Gilbert's syndrome
database_cross_reference: UMLS_CUI:C0017551
database_cross_reference: MESH:D005878
database_cross_reference: SNOMEDCT_US_2020_03_01:27503000
has_exact_synonym: Gilbert-Meulengracht syndrome
has_exact_synonym: hereditary nonhemolytic jaundice
in_subset: NCIthesaurus
imported from: doid.owl

bilirubin metabolic disorder
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
has_obo_namespace: disease_ontology
id: DOID:2741
database_cross_reference: SNOMEDCT_US_2020_03_01:154770008
database_cross_reference: NCI:C84761
database_cross_reference: UMLS_CUI:C0020433
database_cross_reference: UMLS_CUI:C0020435
database_cross_reference: MESH:D006932
database_cross_reference: MESH:D006933
has_alternative_id: DOID:2740
has_exact_synonym: hereditary hyperbilirubinemia
has_related_synonym: hyperbilirubinaemia
has_exact_synonym: hyperbilirubinemia
in_subset: NCIthesaurus
imported from: doid.owl

auditory system disease
type: Class
subclass of: sensory system disease
database_cross_reference: ICD10CM:H93.9
database_cross_reference: UMLS_CUI:C0013447
definition: A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
has_alternative_id: DOID:1490
database_cross_reference: NCI:C26757
has_alternative_id: DOID:2011
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004427
database_cross_reference: SNOMEDCT_US_2020_03_01:194193002
id: DOID:2742
database_cross_reference: ICD9CM:388.9
has_exact_synonym: ear and mastoid disease
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

pyelitis
type: Class
subclass of: kidney disease
database_cross_reference: UMLS_CUI:C0034183
id: DOID:2744
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:27174002
database_cross_reference: NCI:C34964
database_cross_reference: MESH:D011702
database_cross_reference: ICD10CM:N12
in_subset: NCIthesaurus
imported from: doid.owl

narcissistic personality disorder
type: Class
subclass of: personality disorder
has_obo_namespace: disease_ontology
definition: A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.
database_cross_reference: NCI:C92635
id: DOID:2745
database_cross_reference: ICD9CM:301.81
database_cross_reference: ICD10CM:F60.81
database_cross_reference: UMLS_CUI:C0027402
database_cross_reference: SNOMEDCT_US_2020_03_01:80711002
database_cross_reference: MESH:D010554
in_subset: NCIthesaurus
imported from: doid.owl

glycogen storage disease V
type: Class
subclass of: glycogen storage disease
id: DOID:2746
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:55912009
database_cross_reference: UMLS_CUI:C0017924
database_cross_reference: GARD:6528
database_cross_reference: NCI:C84738
database_cross_reference: OMIM:232600
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D006012
has_exact_synonym: Glycogen storage disease, type V
database_cross_reference: ICD10CM:E74.04
has_exact_synonym: McArdle's disease
has_exact_synonym: glycogen storage disease type V
has_exact_synonym: myophosphorylase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

glycogen storage disease
type: Class
subclass of: glycogen metabolism disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:267498002
database_cross_reference: NCI:C61272
database_cross_reference: UMLS_CUI:C0017919
database_cross_reference: ICD9CM:271.0
database_cross_reference: MESH:D006008
definition: A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
database_cross_reference: ICD10CM:E74.0
id: DOID:2747
has_obo_namespace: disease_ontology
has_narrow_synonym: glycogenoses
has_exact_synonym: glycogenosis
in_subset: NCIthesaurus
imported from: doid.owl

glycogen storage disease IV
type: Class
subclass of: glycogen storage disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:232500
database_cross_reference: ICD10CM:E74.09
database_cross_reference: SNOMEDCT_US_2020_03_01:11179002
has_exact_synonym: Amylopectinosis
database_cross_reference: MESH:D006011
id: DOID:2750
database_cross_reference: UMLS_CUI:C0017923
has_exact_synonym: Branching-transferase deficiency glycogenosis
has_exact_synonym: Glycogen storage disease, type IV
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84737
database_cross_reference: GARD:2520
has_exact_synonym: brancher deficiency glycogenosis
has_exact_synonym: deficiency of 1,4-alpha-glucan branching enzyme
in_subset: NCIthesaurus
imported from: doid.owl

glycogen storage disease II
type: Class
subclass of: glycogen storage disease
database_cross_reference: UMLS_CUI:C0017921
id: DOID:2752
database_cross_reference: SNOMEDCT_US_2020_03_01:237967002
has_obo_namespace: disease_ontology
database_cross_reference: GARD:5714
database_cross_reference: NCI:C84734
database_cross_reference: ICD10CM:E74.02
definition: A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
has_exact_synonym: Generalized glycogenosis
database_cross_reference: MESH:D006009
has_exact_synonym: Glycogen storage disease, type II
has_exact_synonym: Glycogenosis, type 2
has_exact_synonym: Lysosomal alpha-1,4-glucosidase deficiency
database_cross_reference: OMIM:232300
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Pompe's disease
has_exact_synonym: acid maltase deficiency
has_exact_synonym: deficiency of glucoamylase
has_exact_synonym: deficiency of maltase
has_exact_synonym: glycogen storage disease type II
in_subset: NCIthesaurus
imported from: doid.owl

Mycobacterium avium complex disease
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: UMLS_CUI:C0026916
database_cross_reference: SNOMEDCT_US_2020_03_01:14009004
definition: A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015270
database_cross_reference: GARD:7123
id: DOID:2755
database_cross_reference: NCI:C36197
has_exact_synonym: Infection due to Mycobacterium intracellulare
has_exact_synonym: MAC disease
has_exact_synonym: Mycobacterium Avium Infection
has_exact_synonym: Mycobacterium avium Complex
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

tic disorder
type: Class
subclass of: specific developmental disorder
database_cross_reference: UMLS_CUI:C0040188
database_cross_reference: MESH:D013981
database_cross_reference: SNOMEDCT_US_2020_03_01:155005001
definition: A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity.
id: DOID:2769
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:307.20
database_cross_reference: ICD10CM:F95
imported from: doid.owl

irritant dermatitis
type: Class
subclass of: contact dermatitis
database_cross_reference: NCI:C27151
database_cross_reference: ICD10CM:L24.9
id: DOID:2772
has_exact_synonym: Irritant Contact Dermatitis
has_exact_synonym: Irritant contact dermatitis
database_cross_reference: MESH:D017453
database_cross_reference: UMLS_CUI:C0162823
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:110979008
definition: A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation.
has_exact_synonym: primary irritant dermatitis
in_subset: NCIthesaurus
imported from: doid.owl

contact dermatitis
type: Class
subclass of: dermatitis
database_cross_reference: NCI:C26743
database_cross_reference: MESH:D003877
id: DOID:2773
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:156338009
has_exact_synonym: Contact dermatitis
has_exact_synonym: Contact eczema
has_exact_synonym: Dermatitis, venenata
database_cross_reference: ICD10CM:L25.9
database_cross_reference: UMLS_CUI:C0011616
has_exact_synonym: Contact dermatitis/eczema
has_exact_synonym: dermatitis venenata
in_subset: NCIthesaurus
imported from: doid.owl

adamantinoma
type: Class
subclass of: bone cancer
database_cross_reference: MESH:D050398
database_cross_reference: UMLS_CUI:C1367554
id: DOID:2776
database_cross_reference: ORDO:55881
database_cross_reference: NCI:C7644
has_obo_namespace: disease_ontology
definition: A bone cancer that is located_in almost exclusively in the long bones.
in_subset: NCIthesaurus
imported from: doid.owl

lung sarcoma
type: Class
subclass of: sarcoma
subclass of: lung cancer
database_cross_reference: NCI:C4860
id: DOID:2784
database_cross_reference: UMLS_CUI:C0598790
has_obo_namespace: disease_ontology
definition: A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.
has_exact_synonym: pulmonary sarcoma
in_subset: NCIthesaurus
imported from: doid.owl

Dandy-Walker syndrome
type: Class
subclass of: cerebellar disease
database_cross_reference: NCI:C75012
database_cross_reference: MESH:D003616
has_obo_namespace: disease_ontology
id: DOID:2785
database_cross_reference: SNOMEDCT_US_2020_03_01:14447001
database_cross_reference: UMLS_CUI:C0010964
definition: A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
database_cross_reference: OMIM:220200
has_exact_synonym: Atresia of foramina of Magendie and Luschka
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q03.1
database_cross_reference: GARD:6242
in_subset: NCIthesaurus
imported from: doid.owl

cerebellar disease
type: Class
subclass of: brain disease
database_cross_reference: SNOMEDCT_US_2020_03_01:267691001
database_cross_reference: UMLS_CUI:C0007760
id: DOID:2786
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002526
definition: A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome.
imported from: doid.owl

parasitic protozoa infectious disease
type: Class
subclass of: parasitic infectious disease
database_cross_reference: UMLS_CUI:C0033740
has_obo_namespace: disease_ontology
has_alternative_id: DOID:3734
database_cross_reference: ICD10CM:B64
has_alternative_id: DOID:0060003
has_alternative_id: DOID:10553
id: DOID:2789
definition: A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
has_alternative_id: DOID:947
has_alternative_id: DOID:3804
database_cross_reference: NCI:C34953
database_cross_reference: SNOMEDCT_US_2020_03_01:95896000
database_cross_reference: MESH:D011528
has_exact_synonym: mastigophora infectious disease
has_exact_synonym: sarcomastigophora infectious disease
in_subset: NCIthesaurus
imported from: doid.owl

necatoriasis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: UMLS_CUI:C0027528
database_cross_reference: SNOMEDCT_US_2020_03_01:36667009
id: DOID:2790
has_obo_namespace: disease_ontology
has_alternative_id: DOID:13048
definition: A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching.
database_cross_reference: NCI:C34838
database_cross_reference: MESH:D009332
database_cross_reference: ICD10CM:B76.1
in_subset: NCIthesaurus
imported from: doid.owl

idiopathic interstitial pneumonia
type: Class
subclass of: pneumonia
definition: A pneumonia located_in the lung parenchyma of unknown cause.
database_cross_reference: ICD10CM:J84.114
database_cross_reference: UMLS_CUI:C0085786
database_cross_reference: SNOMEDCT_US_2020_03_01:129459004
id: DOID:2797
has_exact_synonym: Diffuse idiopathic pulmonary fibrosis
has_related_synonym: IPF
has_exact_synonym: Idiopathic fibrosing alveolitis
database_cross_reference: MESH:D000080203
has_obo_namespace: disease_ontology
imported from: doid.owl

bronchiolitis obliterans
type: Class
subclass of: bronchial disease
subclass of: interstitial lung disease
database_cross_reference: NCI:C62580
id: DOID:2799
database_cross_reference: MESH:D001989
database_cross_reference: GARD:9551
definition: A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.
has_obo_namespace: disease_ontology
has_exact_synonym: Bronchiolitis exudativa
has_exact_synonym: Bronchiolitis fibrosa obliterans
has_exact_synonym: Obliterative bronchiolitis
database_cross_reference: UMLS_CUI:C0006272
database_cross_reference: SNOMEDCT_US_2020_03_01:40100001
in_subset: NCIthesaurus
imported from: doid.owl

endocrine system disease
type: Class
subclass of: disease of anatomical entity
id: DOID:28
database_cross_reference: MESH:D004700
database_cross_reference: UMLS_CUI:C0014130
database_cross_reference: NCI:C3009
definition: A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
database_cross_reference: ICD9CM:259.9
database_cross_reference: SNOMEDCT_US_2020_03_01:67432001
database_cross_reference: ICD10CM:E34.9
has_obo_namespace: disease_ontology
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

cranial nerve malignant neoplasm
type: Class
subclass of: cranial nerve neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:188311003
id: DOID:2815
database_cross_reference: ICD9CM:192.0
database_cross_reference: MESH:D003390
database_cross_reference: NCI:C3571
database_cross_reference: UMLS_CUI:C0153644
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C72.50
has_exact_synonym: malignant neoplasm of cranial nerve
has_exact_synonym: malignant neoplasm of cranial nerves
has_exact_synonym: malignant tumor of cranial nerve
has_exact_synonym: malignant tumor of the Cranial nerve
in_subset: NCIthesaurus
imported from: doid.owl

nose disease
type: Class
subclass of: upper respiratory tract disease
has_obo_namespace: disease_ontology
id: DOID:2825
database_cross_reference: MESH:D009668
database_cross_reference: UMLS_CUI:C0028432
database_cross_reference: SNOMEDCT_US_2020_03_01:89488007
has_exact_synonym: disorder of the nose
has_exact_synonym: nasal disorder
imported from: doid.owl

acalculous cholecystitis
type: Class
subclass of: cholecystitis
database_cross_reference: MESH:D042101
has_obo_namespace: disease_ontology
has_alternative_id: DOID:2827
database_cross_reference: NCI:C35578
id: DOID:2828
database_cross_reference: UMLS_CUI:C0267841
database_cross_reference: SNOMEDCT_US_2020_03_01:19968009
has_exact_synonym: acute acalculous cholecystitis
has_exact_synonym: acute cholecystitis without calculus
has_exact_synonym: cholecystitis without calculus
in_subset: NCIthesaurus
imported from: doid.owl

asthma
type: Class
subclass of: bronchial disease
database_cross_reference: KEGG:05310
database_cross_reference: ICD9CM:493
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:600807
database_cross_reference: SNOMEDCT_US_2020_03_01:187687003
has_alternative_id: DOID:13830
has_alternative_id: DOID:2840
has_alternative_id: DOID:12703
database_cross_reference: EFO:0000270
database_cross_reference: NCI:C28397
id: DOID:2841
database_cross_reference: MESH:D001249
comment: Xref MGI.
database_cross_reference: ICD10CM:J45
database_cross_reference: UMLS_CUI:C0004096
has_alternative_id: DOID:5783
has_alternative_id: DOID:13829
definition: A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
has_exact_synonym: Exercise induced asthma
database_cross_reference: GARD:10246
has_exact_synonym: bronchial hyperreactivity
has_exact_synonym: chronic obstructive asthma
has_exact_synonym: chronic obstructive asthma with acute exacerbation
has_exact_synonym: chronic obstructive asthma with status asthmaticus
has_exact_synonym: exercise-induced asthma
in_subset: NCIthesaurus
imported from: doid.owl

long QT syndrome
type: Class
subclass of: intrinsic cardiomyopathy
database_cross_reference: ORDO:101016
database_cross_reference: SNOMEDCT_US_2020_03_01:9651007
database_cross_reference: NCI:C34786
database_cross_reference: OMIM:PS192500
database_cross_reference: ORDO:768
database_cross_reference: ICD9CM:426.82
database_cross_reference: GARD:6922
definition: An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
database_cross_reference: SNOMEDCT_US_2020_03_01:20852007
id: DOID:2843
database_cross_reference: ICD10CM:I45.81
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0035828
has_alternative_id: DOID:4069
has_exact_synonym: LQT
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D008133
database_cross_reference: UMLS_CUI:C0023976
has_exact_synonym: Romano-Ward syndrome
has_exact_synonym: long Q-T syndrome
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

melancholia
type: Class
subclass of: mental depression
database_cross_reference: SNOMEDCT_US_2020_03_01:35489007
id: DOID:2848
database_cross_reference: UMLS_CUI:C0025193
database_cross_reference: MESH:D003866
database_cross_reference: NCI:C34812
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

hairy cell leukemia
type: Class
subclass of: chronic lymphocytic leukemia
database_cross_reference: MESH:D007943
definition: A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope.
database_cross_reference: ICD9CM:202.4
database_cross_reference: SNOMEDCT_US_2020_03_01:118613001
database_cross_reference: UMLS_CUI:C0023443
database_cross_reference: NCI:C7402
database_cross_reference: ICD10CM:C91.4
id: DOID:285
database_cross_reference: GARD:6560
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

hyperthyroxinemia
type: Class
subclass of: thyroid gland disease
database_cross_reference: UMLS_CUI:C0020551
definition: A thyroid gland disease that is characterized by elevated thyroxine levels in the blood.
database_cross_reference: MESH:D006981
has_obo_namespace: disease_ontology
id: DOID:2855
database_cross_reference: NCI:C131850
in_subset: NCIthesaurus
imported from: doid.owl

euthyroid sick syndrome
type: Class
subclass of: thyroid gland disease
database_cross_reference: UMLS_CUI:C0015190
database_cross_reference: MESH:D005067
has_obo_namespace: disease_ontology
id: DOID:2856
has_exact_synonym: Euthyroid sick syndrome
database_cross_reference: ICD9CM:790.94
database_cross_reference: ICD10CM:E07.81
database_cross_reference: SNOMEDCT_US_2020_03_01:237542005
database_cross_reference: NCI:C113170
has_exact_synonym: Sick-euthyroid syndrome
in_subset: NCIthesaurus
imported from: doid.owl

hemoglobinopathy
type: Class
subclass of: congenital hemolytic anemia
database_cross_reference: SNOMEDCT_US_2020_03_01:154794008
database_cross_reference: MESH:D006453
database_cross_reference: GARD:12455
database_cross_reference: ICD10CM:D58.2
database_cross_reference: NCI:C3092
database_cross_reference: UMLS_CUI:C0019045
id: DOID:2860
has_obo_namespace: disease_ontology
has_exact_synonym: hemoglobinopathies
in_subset: NCIthesaurus
imported from: doid.owl

glucosephosphate dehydrogenase deficiency
type: Class
subclass of: carbohydrate metabolic disorder
database_cross_reference: GARD:6520
definition: A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
database_cross_reference: NCI:C98933
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:124134002
id: DOID:2862
has_exact_synonym: Glucose-6-phosphate dehydrogenase deficiency
database_cross_reference: MESH:D005955
database_cross_reference: UMLS_CUI:C2939465
has_exact_synonym: deficiency of G-6PD
in_subset: NCIthesaurus
imported from: doid.owl

endometrial adenocarcinoma
type: Class
subclass of: endometrial carcinoma
subclass of: adenocarcinoma
database_cross_reference: NCI:C6287
id: DOID:2870
has_alternative_id: DOID:6650
database_cross_reference: NCI:C7359
database_cross_reference: UMLS_CUI:C1153706
database_cross_reference: SNOMEDCT_US_2020_03_01:123845008
database_cross_reference: UMLS_CUI:C0279763
database_cross_reference: UMLS_CUI:C1336905
definition: An endometrial carcinoma that derives_from epithelial cells of glandular origin.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6290
database_cross_reference: SNOMEDCT_US_2020_03_01:762458004
has_alternative_id: DOID:5827
has_exact_synonym: adenocarcinoma of endometrium
has_exact_synonym: adenocarcinoma of the Endometrium
has_exact_synonym: adenocarcinoma of uterus
has_exact_synonym: endometrial adenoacanthoma
has_exact_synonym: endometrial endometrioid adenocarcinoma
has_exact_synonym: endometrial endometrioid adenocarcinoma with squamous differentiation
has_exact_synonym: endometrioid adenoma or carcinoma
has_exact_synonym: endometrioid adenomas and carcinomas
has_exact_synonym: endometrioid carcinoma of Endometrium
in_subset: NCIthesaurus
imported from: doid.owl

endometrial carcinoma
type: Class
subclass of: endometrial cancer
subclass of: carcinoma
definition: A endometrial cancer that is located_in the tissue lining the uterus.
has_alternative_id: DOID:3000
database_cross_reference: UMLS_CUI:C0476089
database_cross_reference: NCI:C3769
database_cross_reference: SNOMEDCT_US_2020_03_01:93781006
database_cross_reference: MESH:D016889
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:30289006
database_cross_reference: MESH:D018269
database_cross_reference: UMLS_CUI:C0206687
id: DOID:2871
has_exact_synonym: carcinoma of the Endometrium
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7558
has_exact_synonym: endometrioid carcinoma
has_exact_synonym: endometrioid carcinoma of female Reproductive system
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

laryngeal squamous cell carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: laryngeal carcinoma
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:707358000
definition: A laryngeal carcinoma that has_material_basis_in squamous cells.
has_exact_synonym: Epidermoid carcinoma of the Larynx
database_cross_reference: UMLS_CUI:C0280324
database_cross_reference: NCI:C4044
id: DOID:2876
has_exact_synonym: squamous cell carcinoma of larynx
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

endometriosis of uterus
type: Class
subclass of: endometriosis
subclass of: uterine disease
database_cross_reference: SNOMEDCT_US_2020_03_01:76376003
id: DOID:288
definition: A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0341858
database_cross_reference: OMIM:600458
database_cross_reference: ICD10CM:N80.0
database_cross_reference: NCI:C6996
database_cross_reference: MESH:D062788
has_exact_synonym: Endometriosis interna
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:617.0
has_exact_synonym: Endometriosis of myometrium
has_exact_synonym: Endometriosis, myometrium
has_exact_synonym: adenomyosis
has_exact_synonym: uterine Adenomyosis
in_subset: NCIthesaurus
imported from: doid.owl

prostatic adenoma
type: Class
subclass of: cell type benign neoplasm
subclass of: male reproductive organ benign neoplasm
subclass of: prostate disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:21173002
id: DOID:2883
definition: A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.
database_cross_reference: UMLS_CUI:C0520477
database_cross_reference: NCI:C4795
database_cross_reference: MESH:D011470
has_exact_synonym: adenoma - prostate
has_exact_synonym: adenoma of prostate
has_exact_synonym: benign adenoma of prostate
has_exact_synonym: prostate adenoma
in_subset: NCIthesaurus
imported from: doid.owl

retrocochlear disease
type: Class
subclass of: auditory system disease
database_cross_reference: MESH:D012181
database_cross_reference: UMLS_CUI:C0035352
id: DOID:2889
has_obo_namespace: disease_ontology
imported from: doid.owl

endometriosis
type: Class
subclass of: female reproductive system disease
id: DOID:289
definition: A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.
database_cross_reference: EFO:0001065
database_cross_reference: MESH:D004715
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:N80
database_cross_reference: ICD9CM:617
database_cross_reference: SNOMEDCT_US_2020_03_01:11871002
database_cross_reference: UMLS_CUI:C0014175
database_cross_reference: NCI:C3014
in_subset: NCIthesaurus
imported from: doid.owl

thyroid adenoma
type: Class
subclass of: endocrine organ benign neoplasm
subclass of: thyroid gland disease
subclass of: adenoma
definition: An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells.
database_cross_reference: UMLS_CUI:C0151468
database_cross_reference: SNOMEDCT_US_2020_03_01:189174004
database_cross_reference: NCI:C3502
has_exact_synonym: adenoma of thyroid gland
has_obo_namespace: disease_ontology
id: DOID:2891
database_cross_reference: MESH:D013964
in_subset: NCIthesaurus
imported from: doid.owl

cervix carcinoma
type: Class
subclass of: carcinoma
subclass of: cervical cancer
definition: A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
id: DOID:2893
database_cross_reference: NCI:C9039
database_cross_reference: UMLS_CUI:C0302592
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:285432005
has_exact_synonym: cancer of cervix
has_exact_synonym: carcinoma cervix uteri
has_exact_synonym: carcinoma of cervix
has_exact_synonym: carcinoma of the Cervix Uteri
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

Goldenhar syndrome
type: Class
subclass of: syndrome
database_cross_reference: MESH:D006053
database_cross_reference: NCI:C84740
database_cross_reference: ICD10CM:Q87.0
database_cross_reference: ORDO:374
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:46567003
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:6540
id: DOID:2907
definition: A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
has_exact_synonym: Facio-auriculo-vertebral spectrum
has_exact_synonym: First AND second branchial arch syndrome
has_exact_synonym: First arch syndrome
has_exact_synonym: HEMIFACIAL MICROSOMIA
has_exact_synonym: OAV (oculoauriculovertebral) dysplasia
database_cross_reference: OMIM:164210
has_exact_synonym: Otomandibular dysostosis
database_cross_reference: UMLS_CUI:C0265240
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Treacher Collins syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: MESH:D008342
database_cross_reference: GARD:9124
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q75.4
database_cross_reference: OMIM:PS154500
database_cross_reference: NCI:C75018
id: DOID:2908
definition: A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
has_exact_synonym: Franceschetti syndrome
has_exact_synonym: Mandibulofacial dysostosis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:205416009
database_cross_reference: UMLS_CUI:C0242387
has_exact_synonym: mandibulofacial dysostosis
in_subset: NCIthesaurus
imported from: doid.owl

acute pancreatitis
type: Class
subclass of: pancreatitis
has_alternative_id: DOID:2912
database_cross_reference: NCI:C95437
database_cross_reference: UMLS_CUI:C0001339
database_cross_reference: ICD9CM:577.0
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K85
database_cross_reference: MESH:D010195
id: DOID:2913
database_cross_reference: SNOMEDCT_US_2020_03_01:39726008
has_exact_synonym: PANCREATITIS NECROTIZING
has_exact_synonym: acute necrotizing pancreatitis
in_subset: NCIthesaurus
imported from: doid.owl

immune system disease
type: Class
subclass of: disease of anatomical entity
database_cross_reference: ICD10CM:D89.9
database_cross_reference: UMLS_CUI:C0041806
database_cross_reference: ICD9CM:279.9
id: DOID:2914
has_obo_namespace: disease_ontology
definition: A disease of anatomical entity that is located_in the immune system.
database_cross_reference: EFO:0000540
database_cross_reference: SNOMEDCT_US_2020_03_01:154782004
in_subset: DO AGR slim
in_subset: DO FlyBase slim
in_subset: DO GXD slim
in_subset: DO MGI slim
imported from: doid.owl

hypersensitivity reaction type IV disease
type: Class
subclass of: hypersensitivity reaction disease
database_cross_reference: UMLS_CUI:C0021070
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:127071007
id: DOID:2916
database_cross_reference: ICD10CM:C88.9
definition: A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response.
database_cross_reference: MESH:D007160
has_related_synonym: immunoproliferative disease
imported from: doid.owl

cryoglobulinemia
type: Class
subclass of: hypersensitivity reaction type IV disease
database_cross_reference: ICD10CM:D89.1
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:30911005
database_cross_reference: MESH:D003449
definition: A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
has_exact_synonym: CRYOGLOBULINEMIA
has_exact_synonym: Cryoimmunoglobulinaemia
database_cross_reference: NCI:C26736
database_cross_reference: UMLS_CUI:C0010403
database_cross_reference: GARD:6217
id: DOID:2917
in_subset: NCIthesaurus
imported from: doid.owl

lacrimal system cancer
type: Class
subclass of: lacrimal apparatus disease
subclass of: ocular cancer
database_cross_reference: UMLS_CUI:C1334361
database_cross_reference: NCI:C5102
database_cross_reference: SNOMEDCT_US_2020_03_01:416510003
id: DOID:292
has_obo_namespace: disease_ontology
has_exact_synonym: lacrimal system neoplasm
has_exact_synonym: neoplasm of lacrimal system
has_exact_synonym: tumor of the lacrimal system
in_subset: NCIthesaurus
imported from: doid.owl

membranoproliferative glomerulonephritis
type: Class
subclass of: glomerulonephritis
database_cross_reference: NCI:C34644
database_cross_reference: UMLS_CUI:C0017662
has_obo_namespace: disease_ontology
id: DOID:2920
has_exact_synonym: Lobular glomerulonephritis
database_cross_reference: MESH:D015432
database_cross_reference: SNOMEDCT_US_2020_03_01:80321008
database_cross_reference: GARD:11982
database_cross_reference: OMIM:305800
has_exact_synonym: chronic glomerulonephritis, lobular
in_subset: NCIthesaurus
imported from: doid.owl

glomerulonephritis
type: Class
subclass of: nephritis
database_cross_reference: NCI:C26784
database_cross_reference: UMLS_CUI:C0017658
database_cross_reference: GARD:6516
database_cross_reference: ICD10CM:N08
id: DOID:2921
database_cross_reference: SNOMEDCT_US_2020_03_01:36171008
has_obo_namespace: disease_ontology
definition: A nephritis that causes inflammation of the glomeruli located_in kidney.
database_cross_reference: MESH:D005921
in_subset: NCIthesaurus
imported from: doid.owl

Klippel-Trenaunay syndrome
type: Class
subclass of: syndrome
database_cross_reference: NCI:C84801
database_cross_reference: MESH:D007715
database_cross_reference: UMLS_CUI:C0022739
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q87.2
definition: A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
id: DOID:2926
has_exact_synonym: Haemangiectatic hypertrophy
has_exact_synonym: Klippel-Trenaunay-Weber syndrome
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:149000
database_cross_reference: SNOMEDCT_US_2020_03_01:59078009
has_exact_synonym: angioosteohypertrophy syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Newcastle disease
type: Class
subclass of: viral infectious disease
definition: A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds.
database_cross_reference: NCI:C34849
id: DOID:2929
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:258300000
database_cross_reference: UMLS_CUI:C0027983
database_cross_reference: MESH:D009521
has_exact_synonym: Newcastle's disease
has_exact_synonym: Pseudo-fowlpest
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

Chediak-Higashi syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: ICD10CM:E70.330
database_cross_reference: SNOMEDCT_US_2020_03_01:111396008
database_cross_reference: OMIM:214500
id: DOID:2935
database_cross_reference: MESH:D002609
database_cross_reference: GARD:6035
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:167
database_cross_reference: NCI:C2941
definition: A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene.
has_exact_synonym: CHS
has_exact_synonym: Chediak - Steinbrinck anomaly
database_cross_reference: UMLS_CUI:C0007965
comment: OMIM mapping confirmed by DO. [SN].
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

lacrimal gland cancer
type: Class
subclass of: lacrimal system cancer
has_alternative_id: DOID:291
id: DOID:294
database_cross_reference: ICD9CM:190.2
database_cross_reference: NCI:C3563
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0339124
database_cross_reference: UMLS_CUI:C0153627
database_cross_reference: NCI:C4360
database_cross_reference: SNOMEDCT_US_2020_03_01:188271007
database_cross_reference: SNOMEDCT_US_2020_03_01:127004000
has_exact_synonym: malignant neoplasm of lacrimal gland
has_exact_synonym: malignant tumour of lacrimal gland
has_exact_synonym: neoplasm of lacrimal gland
has_exact_synonym: tumor of the lacrimal gland
in_subset: NCIthesaurus
imported from: doid.owl

bronchiolitis
type: Class
subclass of: bronchial disease
subclass of: lung disease
database_cross_reference: SNOMEDCT_US_2020_03_01:4120002
definition: A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
database_cross_reference: UMLS_CUI:C0006271
database_cross_reference: NCI:C39658
id: DOID:2942
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D001988
in_subset: NCIthesaurus
imported from: doid.owl

severe acute respiratory syndrome
type: Class
subclass of: Coronavirus infectious disease
id: DOID:2945
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C85064
database_cross_reference: UMLS_CUI:C1175175
database_cross_reference: SNOMEDCT_US_2020_03_01:398447004
database_cross_reference: GARD:9237
database_cross_reference: ICD10CM:J12.81
database_cross_reference: ICD9CM:079.82
database_cross_reference: MESH:D045169
definition: A Coronavirus infection that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
has_exact_synonym: SARS
has_exact_synonym: SARS-CoV infection
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

motion sickness
type: Class
subclass of: inner ear disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:37031009
id: DOID:2951
database_cross_reference: UMLS_CUI:C0026603
database_cross_reference: OMIM:158280
database_cross_reference: NCI:C34824
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:T75.3
database_cross_reference: MESH:D009041
database_cross_reference: ICD9CM:994.6
has_exact_synonym: Travel Sickness
in_subset: NCIthesaurus
imported from: doid.owl

inner ear disease
type: Class
subclass of: auditory system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:20425006
database_cross_reference: UMLS_CUI:C0494559
database_cross_reference: SNOMEDCT_US_2020_03_01:194690003
database_cross_reference: ICD10CM:H83.9
database_cross_reference: UMLS_CUI:C0022890
id: DOID:2952
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007759
database_cross_reference: NCI:C128369
database_cross_reference: NCI:C27166
has_exact_synonym: labyrinthine disease
in_subset: NCIthesaurus
imported from: doid.owl

hyperimmunoglobulin syndrome
type: Class
subclass of: B cell deficiency
database_cross_reference: NCI:C27579
id: DOID:2959
has_obo_namespace: disease_ontology
definition: A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.
database_cross_reference: UMLS_CUI:C1334069
in_subset: NCIthesaurus
imported from: doid.owl

photosensitive trichothiodystrophy
type: Class
subclass of: trichothiodystrophy
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: TTD-P
database_cross_reference: NCI:C4924
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D054463
database_cross_reference: SNOMEDCT_US_2020_03_01:723551003
id: DOID:2960
definition: A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
has_exact_synonym: IBIDS syndrome
database_cross_reference: OMIM:PS601675
has_exact_synonym: Tay syndrome
has_exact_synonym: sulfur-deficient brittle hair syndrome
has_exact_synonym: trichothiodystrophy with congenital ichthyosis
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Cockayne syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
definition: A syndrome that has_material_basis_in rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.
database_cross_reference: ORDO:90321
database_cross_reference: ORDO:90324
database_cross_reference: ORDO:90322
id: DOID:2962
database_cross_reference: OMIM:133540
database_cross_reference: UMLS_CUI:C0009207
database_cross_reference: GARD:6122
database_cross_reference: SNOMEDCT_US_2020_03_01:205832003
has_related_synonym: Cockayne's syndrome
database_cross_reference: ICD10CM:Q87.19
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:191
database_cross_reference: OMIM:216400
database_cross_reference: MESH:D003057
database_cross_reference: NCI:C9460
has_exact_synonym: Neill-Dingwall syndrome
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

bursitis
type: Class
subclass of: arthropathy
database_cross_reference: ICD10CM:M71.9
database_cross_reference: MESH:D002062
database_cross_reference: SNOMEDCT_US_2020_03_01:156677003
database_cross_reference: UMLS_CUI:C0006444
id: DOID:2965
database_cross_reference: NCI:C94407
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

pleomorphic adenoma carcinoma
type: Class
subclass of: salivary gland cancer
database_cross_reference: NCI:C4397
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:17264009
database_cross_reference: UMLS_CUI:C0344460
id: DOID:297
has_exact_synonym: carcinoma ex pleomorphic adenoma
has_exact_synonym: carcinoma in pleomorphic adenoma
in_subset: NCIthesaurus
imported from: doid.owl

cystic kidney disease
type: Class
subclass of: kidney disease
id: DOID:2975
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0022679
database_cross_reference: MESH:D052177
has_exact_synonym: renal Cyst
imported from: doid.owl

primary hyperoxaluria
type: Class
subclass of: carbohydrate metabolic disorder
database_cross_reference: ICD10CM:R82.992
database_cross_reference: MESH:D006959
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:367621000119107
database_cross_reference: SNOMEDCT_US_2020_03_01:190766003
database_cross_reference: MESH:D006960
database_cross_reference: ICD10CM:E72.53
database_cross_reference: UMLS_CUI:C0020500
database_cross_reference: NCI:C123158
database_cross_reference: OMIM:PS259900
database_cross_reference: ORDO:416
definition: A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0020501
has_alternative_id: DOID:2979
id: DOID:2977
in_subset: NCIthesaurus
imported from: doid.owl

carbohydrate metabolic disorder
type: Class
subclass of: inherited metabolic disorder
id: DOID:2978
has_obo_namespace: disease_ontology
has_alternative_id: DOID:9434
database_cross_reference: MESH:D002239
definition: An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
database_cross_reference: UMLS_CUI:C0007001
has_exact_synonym: disorder of carbohydrate transport and metabolism
has_exact_synonym: inborn carbohydrate metabolism disorder
has_exact_synonym: inborn errors of carbohydrate metabolism
imported from: doid.owl

perinephritis
type: Class
subclass of: kidney disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D010501
database_cross_reference: SNOMEDCT_US_2020_03_01:111404004
id: DOID:2982
database_cross_reference: UMLS_CUI:C0031065
imported from: doid.owl

anuria
type: Class
subclass of: kidney disease
database_cross_reference: MESH:D001002
database_cross_reference: UMLS_CUI:C0003460
database_cross_reference: NCI:C114699
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:139460001
id: DOID:2983
has_exact_synonym: Suppression of urinary secretion
in_subset: NCIthesaurus
imported from: doid.owl

IgA glomerulonephritis
type: Class
subclass of: glomerulonephritis
database_cross_reference: OMIM:161950
definition: A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: EFO:0004194
database_cross_reference: GARD:863
database_cross_reference: NCI:C34643
has_exact_synonym: Berger's IgA or IgG nephropathy
database_cross_reference: MESH:D005922
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0017661
id: DOID:2986
has_exact_synonym: Focal Glomerulonephritis
database_cross_reference: SNOMEDCT_US_2020_03_01:236407003
has_exact_synonym: IGA glomerulonephritis
has_exact_synonym: IgA nephropathy
has_exact_synonym: primary IgA nephropathy
has_exact_synonym: segmental glomerulonephritis
in_subset: NCIthesaurus
imported from: doid.owl

familial Mediterranean fever
type: Class
subclass of: autosomal genetic disease
subclass of: autoimmune disease
database_cross_reference: ICD10CM:M04.1
database_cross_reference: GARD:6421
definition: An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
database_cross_reference: SNOMEDCT_US_2020_03_01:12579009
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D010505
database_cross_reference: UMLS_CUI:C0031069
database_cross_reference: OMIM:249100
database_cross_reference: NCI:C84707
id: DOID:2987
database_cross_reference: OMIM:134610
database_cross_reference: ORDO:342
database_cross_reference: ICD9CM:277.31
has_exact_synonym: benign paroxysmal peritonitis
has_obo_namespace: disease_ontology
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

antiphospholipid syndrome
type: Class
subclass of: autoimmune disease of cardiovascular system
database_cross_reference: GARD:5824
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:107320
database_cross_reference: ICD10CM:D68.61
database_cross_reference: NCI:C61283
definition: An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
database_cross_reference: SNOMEDCT_US_2020_03_01:201450008
database_cross_reference: MESH:D016736
id: DOID:2988
has_exact_synonym: antiphospholipid antibody syndrome
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0085278
has_exact_synonym: Antiphospholipid syndrome
in_subset: NCIthesaurus
imported from: doid.owl

adenocarcinoma
type: Class
subclass of: carcinoma
id: DOID:299
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2852
database_cross_reference: SNOMEDCT_US_2020_03_01:443961001
database_cross_reference: UMLS_CUI:C0001418
database_cross_reference: MESH:D000230
definition: A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
in_subset: NCIthesaurus
imported from: doid.owl

germ cell cancer
type: Class
subclass of: cell type cancer
database_cross_reference: UMLS_CUI:C0205851
has_alternative_id: DOID:2157
database_cross_reference: MESH:D009373
definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells.
database_cross_reference: SNOMEDCT_US_2020_03_01:302853003
database_cross_reference: NCI:C3708
id: DOID:2994
has_obo_namespace: disease_ontology
has_related_synonym: germ cell neoplasm
has_related_synonym: germ cell tumour
has_exact_synonym: malignant tumor of the germ cell
in_subset: NCIthesaurus
imported from: doid.owl

Sertoli-Leydig cell tumor
type: Class
subclass of: sex cord-gonadal stromal tumor
definition: A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles.
has_alternative_id: DOID:0050618
database_cross_reference: MESH:D018310
database_cross_reference: GARD:9967
database_cross_reference: UMLS_CUI:C0206723
database_cross_reference: SNOMEDCT_US_2020_03_01:34110004
id: DOID:2997
has_obo_namespace: disease_ontology
imported from: doid.owl

testicular cancer
type: Class
subclass of: testicular disease
subclass of: male reproductive organ cancer
database_cross_reference: NCI:C7251
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0039590
database_cross_reference: NCI:C5053
id: DOID:2998
database_cross_reference: UMLS_CUI:C1333010
database_cross_reference: UMLS_CUI:C0153594
database_cross_reference: ICD10CM:C62
database_cross_reference: SNOMEDCT_US_2020_03_01:94087009
database_cross_reference: GARD:7746
database_cross_reference: ICD9CM:186
definition: A male reproductive system cancer that is located_in the testicles.
database_cross_reference: MESH:D013736
database_cross_reference: SNOMEDCT_US_2020_03_01:126900000
has_alternative_id: DOID:12231
database_cross_reference: NCI:C3404
has_alternative_id: DOID:5554
has_exact_synonym: childhood neoplasm of the testis
has_obo_namespace: disease_ontology
has_exact_synonym: neoplasm of testis
has_exact_synonym: pediatric testicular neoplasm
has_exact_synonym: testicular tumor
has_exact_synonym: testis cancer
has_exact_synonym: testis neoplasm
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

granulosa cell tumor
type: Class
subclass of: sex cord-gonadal stromal tumor
database_cross_reference: MESH:D006106
database_cross_reference: UMLS_CUI:C0334401
database_cross_reference: SNOMEDCT_US_2020_03_01:46585005
database_cross_reference: SNOMEDCT_US_2020_03_01:18861007
definition: A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.
has_alternative_id: DOID:5333
database_cross_reference: NCI:C3070
id: DOID:2999
has_exact_synonym: Granulosa cell neoplasm
has_exact_synonym: Granulosa cell tumour, sarcomatoid
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4205
database_cross_reference: UMLS_CUI:C0018206
has_exact_synonym: Granulosa cell tumor, adult type
has_exact_synonym: malignant granulosa cell neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

breast myoepithelial neoplasm
type: Class
subclass of: breast cancer
id: DOID:3004
definition: A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane.
database_cross_reference: UMLS_CUI:C1511319
database_cross_reference: NCI:C40389
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

lobular neoplasia
type: Class
subclass of: breast carcinoma in situ
id: DOID:3010
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C27939
database_cross_reference: UMLS_CUI:C0861352
definition: A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast.
has_exact_synonym: Lobular Intraepithelial Neoplasia
has_exact_synonym: lobular carcinoma in situ
in_subset: NCIthesaurus
imported from: doid.owl

Li-Fraumeni syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: MESH:D016864
database_cross_reference: GARD:6902
database_cross_reference: OMIM:PS151623
database_cross_reference: SNOMEDCT_US_2020_03_01:428850001
database_cross_reference: NCI:C3476
database_cross_reference: ORDO:524
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0085390
has_obo_namespace: disease_ontology
definition: A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
id: DOID:3012
has_exact_synonym: Li-Fraumeni Familiar cancer Susceptibility syndrome
has_exact_synonym: SBLA syndrome
has_exact_synonym: sarcoma, breast, leukaemia and adrenal gland syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

intraductal breast benign neoplasm
type: Class
subclass of: breast benign neoplasm
database_cross_reference: NCI:C36083
id: DOID:3013
definition: A breast benign neoplasm that is located_in the breast ducts.
database_cross_reference: UMLS_CUI:C0948967
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

breast malignant phyllodes tumor
type: Class
subclass of: breast cancer
database_cross_reference: UMLS_CUI:C0600066
database_cross_reference: SNOMEDCT_US_2020_03_01:712989008
database_cross_reference: NCI:C4504
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:254844000
database_cross_reference: MESH:D003557
database_cross_reference: NCI:C7575
database_cross_reference: UMLS_CUI:C0346154
has_alternative_id: DOID:3018
definition: A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s).
has_alternative_id: DOID:1632
id: DOID:3016
database_cross_reference: SNOMEDCT_US_2020_03_01:87913009
database_cross_reference: UMLS_CUI:C0238031
database_cross_reference: NCI:C4275
has_exact_synonym: Phyllodes breast neoplasm
has_exact_synonym: Phyllodes tumor, malignant
has_exact_synonym: breast malignant phyllodes tumour
has_exact_synonym: malignant Mammary Phyllodes tumor
has_exact_synonym: malignant Mammary Phyllodes tumour
has_exact_synonym: malignant Phyllodes neoplasm
has_exact_synonym: malignant cystosarcoma phyllodes
has_exact_synonym: malignant phyllodes tumor
has_exact_synonym: malignant phyllodes tumor of breast
has_exact_synonym: malignant phyllodes tumour
has_exact_synonym: malignant phyllodes tumour of breast
has_exact_synonym: phyllodes breast tumor
has_exact_synonym: phyllodes breast tumour
in_subset: NCIthesaurus
imported from: doid.owl

breast sarcoma
type: Class
subclass of: breast cancer
database_cross_reference: UMLS_CUI:C0349667
definition: A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells.
database_cross_reference: NCI:C4670
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:278050001
id: DOID:3017
has_exact_synonym: sarcoma of breast
in_subset: NCIthesaurus
imported from: doid.owl

substance abuse
type: Class
subclass of: substance-related disorder
id: DOID:302
database_cross_reference: MESH:D019966
database_cross_reference: SNOMEDCT_US_2020_03_01:26416006
database_cross_reference: UMLS_CUI:C0013146
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C16522
definition: A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
in_subset: NCIthesaurus
imported from: doid.owl

acinar cell carcinoma
type: Class
subclass of: carcinoma
database_cross_reference: UMLS_CUI:C0206685
database_cross_reference: GARD:8568
definition: A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.
id: DOID:3025
database_cross_reference: MESH:D018267
database_cross_reference: NCI:C3768
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:45410002
has_exact_synonym: acinic cell carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

substance-related disorder
type: Class
subclass of: disease of mental health
database_cross_reference: NCI:C92203
database_cross_reference: UMLS_CUI:C0236969
id: DOID:303
database_cross_reference: MESH:D019966
has_obo_namespace: disease_ontology
definition: A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.
in_subset: NCIthesaurus
imported from: doid.owl

mucinous adenocarcinoma
type: Class
subclass of: adenocarcinoma
database_cross_reference: UMLS_CUI:C0007130
database_cross_reference: SNOMEDCT_US_2020_03_01:900006
database_cross_reference: SNOMEDCT_US_2020_03_01:72495009
database_cross_reference: NCI:C27379
database_cross_reference: UMLS_CUI:C0334368
definition: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
database_cross_reference: NCI:C26712
id: DOID:3030
has_alternative_id: DOID:4532
database_cross_reference: MESH:D002288
has_exact_synonym: Mucin-Secreting adenocarcinoma
has_exact_synonym: Mucin-Secreting carcinoma
has_exact_synonym: Mucin-producing adenocarcinoma
has_exact_synonym: Mucous carcinoma
has_exact_synonym: Pseudomyxoma peritonei with unknown primary site
has_obo_namespace: disease_ontology
has_exact_synonym: mucin-producing adenocarcinoma
in_subset: NCIthesaurus
imported from: doid.owl

allergic contact dermatitis
type: Class
subclass of: allergic disease
subclass of: contact dermatitis
database_cross_reference: SNOMEDCT_US_2020_03_01:200841005
definition: A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.
id: DOID:3042
database_cross_reference: UMLS_CUI:C0162820
database_cross_reference: ICD10CM:L23
database_cross_reference: NCI:C26998
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D017449
in_subset: NCIthesaurus
imported from: doid.owl

food allergy
type: Class
subclass of: gastrointestinal allergy
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:213018006
database_cross_reference: UMLS_CUI:C0016470
id: DOID:3044
database_cross_reference: MESH:D005512
definition: A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
has_exact_synonym: food hypersensitivity
in_subset: DO IEDB slim
imported from: doid.owl

Churg-Strauss syndrome
type: Class
subclass of: vasculitis
has_exact_synonym: Allergic Granulomatous Angiitis
database_cross_reference: NCI:C34481
has_obo_namespace: disease_ontology
id: DOID:3049
database_cross_reference: SNOMEDCT_US_2020_03_01:82275008
database_cross_reference: MESH:D015267
has_exact_synonym: Allergic granulomatosis angiitis
has_exact_synonym: Churg-Strauss vasculitis
database_cross_reference: ICD10CM:M30.1
database_cross_reference: UMLS_CUI:C0008728
definition: A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
in_subset: NCIthesaurus
imported from: doid.owl

carcinoma
type: Class
subclass of: cell type cancer
database_cross_reference: UMLS_CUI:C1368683
database_cross_reference: UMLS_CUI:C0007097
definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
database_cross_reference: SNOMEDCT_US_2020_03_01:269513004
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:71298006
database_cross_reference: NCI:C3709
database_cross_reference: SNOMEDCT_US_2020_03_01:188083002
has_alternative_id: DOID:6570
database_cross_reference: NCI:C2916
database_cross_reference: MESH:D009375
has_alternative_id: DOID:2428
database_cross_reference: MESH:D002277
id: DOID:305
database_cross_reference: UMLS_CUI:C0553707
has_exact_synonym: epithelial cancer
has_exact_synonym: epithelioma
has_exact_synonym: malignant Epithelioma
in_subset: DO FlyBase slim
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

paratyphoid fever
type: Class
subclass of: primary bacterial infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D010284
database_cross_reference: SNOMEDCT_US_2020_03_01:76623002
database_cross_reference: UMLS_CUI:C0030528
database_cross_reference: SNOMEDCT_US_2020_03_01:51254007
database_cross_reference: ICD10CM:A01.3
database_cross_reference: ICD10CM:A01.4
database_cross_reference: ICD10CM:A01.1
database_cross_reference: ICD10CM:A01.2
database_cross_reference: SNOMEDCT_US_2020_03_01:85904008
database_cross_reference: ICD9CM:002.1
database_cross_reference: ICD9CM:002.2
definition: A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly.
database_cross_reference: NCI:C34894
database_cross_reference: NCI:C34896
database_cross_reference: NCI:C34895
database_cross_reference: ICD9CM:002.3
has_alternative_id: DOID:13325
database_cross_reference: NCI:C34897
has_alternative_id: DOID:13324
database_cross_reference: ICD9CM:002.9
database_cross_reference: UMLS_CUI:C0343376
database_cross_reference: UMLS_CUI:C0343377
database_cross_reference: UMLS_CUI:C0343375
id: DOID:3055
has_alternative_id: DOID:3053
has_exact_synonym: Paratyphoid
has_exact_synonym: Paratyphoid A fever
has_exact_synonym: Paratyphoid B fever
has_exact_synonym: Paratyphoid C fever
has_exact_synonym: Paratyphoid Fever A
has_exact_synonym: Paratyphoid Fever B
has_exact_synonym: Paratyphoid Fever C
has_exact_synonym: Paratyphoid fever A
has_exact_synonym: Paratyphoid fever B
has_exact_synonym: Paratyphoid fever C
database_cross_reference: SNOMEDCT_US_2020_03_01:71085009
has_exact_synonym: paratyphoid a
has_exact_synonym: paratyphoid b
has_exact_synonym: paratyphoid c
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

glioblastoma
type: Class
subclass of: astrocytoma
database_cross_reference: NCI:C9094
has_exact_synonym: glioblastoma multiforme
has_alternative_id: DOID:3080
database_cross_reference: UMLS_CUI:C1514422
database_cross_reference: SNOMEDCT_US_2020_03_01:63634009
database_cross_reference: UMLS_CUI:C0278878
has_obo_namespace: disease_ontology
definition: An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.
database_cross_reference: MESH:D005909
database_cross_reference: NCI:C39750
has_alternative_id: DOID:3075
database_cross_reference: NCI:C3058
id: DOID:3068
database_cross_reference: GARD:2491
has_exact_synonym: GBM
database_cross_reference: UMLS_CUI:C0017636
has_exact_synonym: adult glioblastoma multiforme
has_exact_synonym: grade IV adult Astrocytic tumor
has_exact_synonym: primary glioblastoma multiforme
has_exact_synonym: spongioblastoma multiforme
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

astrocytoma
type: Class
subclass of: malignant glioma
database_cross_reference: UMLS_CUI:C0750935
database_cross_reference: NCI:C4951
has_alternative_id: DOID:4861
database_cross_reference: SNOMEDCT_US_2020_03_01:99131000119108
database_cross_reference: ICDO:M9400/3
database_cross_reference: NCI:C60781
database_cross_reference: UMLS_CUI:C0004114
database_cross_reference: SNOMEDCT_US_2020_03_01:189914005
database_cross_reference: MESH:D001254
id: DOID:3069
has_exact_synonym: astrocytoma of Cerebrum
has_exact_synonym: astrocytoma of brain
has_exact_synonym: astroglioma
has_exact_synonym: cerebral astrocytoma
has_obo_namespace: disease_ontology
definition: A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.
has_exact_synonym: Astrocytic tumor
has_exact_synonym: Astrocytoma, NOS
in_subset: NCIthesaurus
imported from: doid.owl

malignant glioma
type: Class
subclass of: cell type cancer
subclass of: spinal disease
subclass of: brain cancer
subclass of: bone cancer
has_alternative_id: DOID:2627
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:182067
database_cross_reference: UMLS_CUI:C0555198
database_cross_reference: SNOMEDCT_US_2020_03_01:393564001
database_cross_reference: KEGG:05214
database_cross_reference: SNOMEDCT_US_2020_03_01:74532006
database_cross_reference: ICDO:M9380/3
definition: A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.
database_cross_reference: OMIM:PS137800
id: DOID:3070
database_cross_reference: MESH:D005910
has_exact_synonym: Neuroglial tumor
database_cross_reference: UMLS_CUI:C0017638
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C4822
has_exact_synonym: glial cell tumor
has_exact_synonym: glioma, malignant
has_exact_synonym: malignant Neuroglial tumor
in_subset: DO cancer slim
in_subset: DO rare slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

gliosarcoma
type: Class
subclass of: glioblastoma
id: DOID:3071
database_cross_reference: GARD:5653
database_cross_reference: NCI:C3796
has_exact_synonym: Glioblastoma with sarcomatous component
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:35262004
definition: A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.
database_cross_reference: UMLS_CUI:C0206726
database_cross_reference: MESH:D018316
in_subset: NCIthesaurus
imported from: doid.owl

early myoclonic encephalopathy
type: Class
subclass of: neonatal period electroclinical syndrome
database_cross_reference: UMLS_CUI:C0014550
database_cross_reference: MESH:D004831
id: DOID:308
has_exact_synonym: Epileptic seizures, myoclonic
has_exact_synonym: Myoclonic seizure disorder
has_obo_namespace: disease_ontology
has_exact_synonym: Epileptic seizures - myoclonic
has_exact_synonym: Myoclonic seizure
has_exact_synonym: myoclonia epileptica
has_exact_synonym: myoclonic epilepsy
imported from: doid.owl

cystic lymphangioma
type: Class
subclass of: lymphangioma
database_cross_reference: OMIM:257350
id: DOID:3081
database_cross_reference: MESH:D018191
database_cross_reference: SNOMEDCT_US_2020_03_01:40225001
has_exact_synonym: cystic Hygroma
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6234
database_cross_reference: NCI:C3724
database_cross_reference: UMLS_CUI:C0206620
in_subset: NCIthesaurus
imported from: doid.owl

interstitial lung disease
type: Class
subclass of: connective tissue disease
subclass of: lung disease
id: DOID:3082
definition: A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.
database_cross_reference: UMLS_CUI:C0206062
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D017563
database_cross_reference: SNOMEDCT_US_2020_03_01:64667001
database_cross_reference: ICD10CM:J84.9
database_cross_reference: GARD:13336
has_exact_synonym: ILD
imported from: doid.owl

chronic obstructive pulmonary disease
type: Class
subclass of: obstructive lung disease
has_alternative_id: DOID:6144
database_cross_reference: OMIM:606963
has_exact_synonym: COLD
database_cross_reference: NCI:C3199
database_cross_reference: EFO:0000341
has_obo_namespace: disease_ontology
definition: An obstructive lung disease that is characterized by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease.
database_cross_reference: SNOMEDCT_US_2020_03_01:13645005
has_alternative_id: DOID:11500
database_cross_reference: ICD10CM:J44.9
database_cross_reference: UMLS_CUI:C0024117
has_exact_synonym: COPD
id: DOID:3083
database_cross_reference: MESH:D029424
has_exact_synonym: chronic obstructive airway disease
has_exact_synonym: chronic obstructive lung disease
in_subset: NCIthesaurus
imported from: doid.owl

gingival overgrowth
type: Class
subclass of: gingival disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K06.1
database_cross_reference: MESH:D019214
id: DOID:3086
has_exact_synonym: Gingival enlargement
database_cross_reference: SNOMEDCT_US_2020_03_01:54711002
database_cross_reference: UMLS_CUI:C0376480
imported from: doid.owl

gingivitis
type: Class
subclass of: gingival disease
id: DOID:3087
database_cross_reference: NCI:C34636
database_cross_reference: ICD9CM:523.0
database_cross_reference: ICD9CM:523.1
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K05.1
database_cross_reference: UMLS_CUI:C0155937
database_cross_reference: NCI:C34474
database_cross_reference: ICD10CM:K05.0
database_cross_reference: MESH:D005891
database_cross_reference: SNOMEDCT_US_2020_03_01:196355002
database_cross_reference: SNOMEDCT_US_2020_03_01:266490003
database_cross_reference: UMLS_CUI:C0017574
has_alternative_id: DOID:10424
database_cross_reference: UMLS_CUI:C0008684
database_cross_reference: SNOMEDCT_US_2020_03_01:155643004
has_alternative_id: DOID:10422
database_cross_reference: ICD10CM:K05.10
has_exact_synonym: acute gingivitis
has_exact_synonym: chronic gingivitis
in_subset: NCIthesaurus
imported from: doid.owl

nervous system cancer
type: Class
subclass of: organ system cancer
subclass of: nervous system disease
database_cross_reference: UMLS_CUI:C0153643
id: DOID:3093
database_cross_reference: UMLS_CUI:C0027665
database_cross_reference: MESH:D009380
database_cross_reference: ICD9CM:192.9
has_alternative_id: DOID:1193
has_alternative_id: DOID:3195
database_cross_reference: NCI:C35562
has_obo_namespace: disease_ontology
definition: An organ system cancer located_in the nervous system that affects the central or peripheral nervous system.
has_alternative_id: DOID:4695
database_cross_reference: UMLS_CUI:C1334956
database_cross_reference: SNOMEDCT_US_2020_03_01:188306000
has_exact_synonym: malignant neoplasm of nervous system
has_exact_synonym: neoplasm of nervous system
has_exact_synonym: nervous system neoplasm
has_exact_synonym: neural neoplasm
has_exact_synonym: neural tumor
has_exact_synonym: tumor of the nervous system
in_subset: NCIthesaurus
imported from: doid.owl

germ cell and embryonal cancer
type: Class
subclass of: sarcoma
subclass of: germ cell cancer
database_cross_reference: MESH:D009373
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027658
definition: A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells.
id: DOID:3095
has_related_synonym: germ cell and embryonal neoplasm
imported from: doid.owl

thoracic outlet syndrome
type: Class
subclass of: vascular disease
database_cross_reference: MESH:D013901
id: DOID:3103
database_cross_reference: ICD10CM:G54.0
database_cross_reference: GARD:7759
database_cross_reference: SNOMEDCT_US_2020_03_01:2040007
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C85188
definition: A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles.
has_exact_synonym: TOS - Thoracic outlet syndrome
database_cross_reference: UMLS_CUI:C0039984
in_subset: NCIthesaurus
imported from: doid.owl

ascaridiasis
type: Class
subclass of: parasitic helminthiasis infectious disease
definition: A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia.
database_cross_reference: SNOMEDCT_US_2020_03_01:2435008
has_obo_namespace: disease_ontology
id: DOID:3108
database_cross_reference: UMLS_CUI:C0003952
database_cross_reference: MESH:D001198
imported from: doid.owl

cystadenocarcinoma
type: Class
subclass of: malignant cystadenoma
database_cross_reference: MESH:D003536
database_cross_reference: NCI:C2971
id: DOID:3111
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:21008007
database_cross_reference: UMLS_CUI:C0010631
definition: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.
in_subset: NCIthesaurus
imported from: doid.owl

papillary adenocarcinoma
type: Class
subclass of: adenocarcinoma
id: DOID:3112
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2853
database_cross_reference: SNOMEDCT_US_2020_03_01:4797003
definition: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue.
has_exact_synonym: Infiltrating and papillary adenocarcinoma
database_cross_reference: MESH:D000231
has_exact_synonym: Papillary adenocarcinoma
database_cross_reference: UMLS_CUI:C0001420
has_alternative_id: DOID:5596
has_exact_synonym: infiltrating papillary adenocarcinoma
in_subset: NCIthesaurus
imported from: doid.owl

serous cystadenocarcinoma
type: Class
subclass of: cystadenocarcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:90725004
database_cross_reference: UMLS_CUI:C0206701
id: DOID:3114
database_cross_reference: NCI:C3778
database_cross_reference: MESH:D018284
has_obo_namespace: disease_ontology
definition: A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
has_exact_synonym: serous adenocarcinoma
has_exact_synonym: serous carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

kidney benign neoplasm
type: Class
subclass of: lipoma
subclass of: kidney disease
subclass of: urinary system benign neoplasm
database_cross_reference: NCI:C7514
database_cross_reference: UMLS_CUI:C1334323
id: DOID:3116
has_obo_namespace: disease_ontology
has_exact_synonym: renal and ureteral tumor
in_subset: NCIthesaurus
imported from: doid.owl

hepatobiliary benign neoplasm
type: Class
subclass of: gastrointestinal system benign neoplasm
database_cross_reference: NCI:C8614
has_obo_namespace: disease_ontology
definition: A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
id: DOID:3117
database_cross_reference: UMLS_CUI:C0854196
has_exact_synonym: hepatobiliary tumors
in_subset: NCIthesaurus
imported from: doid.owl

hepatobiliary disease
type: Class
subclass of: gastrointestinal system disease
database_cross_reference: NCI:C3959
database_cross_reference: UMLS_CUI:C0267792
database_cross_reference: MESH:D004066
definition: A gastrointestinal system disease that is located_in the liver and/or biliary tract.
id: DOID:3118
has_obo_namespace: disease_ontology
has_exact_synonym: liver and biliary tract disease
in_subset: NCIthesaurus
imported from: doid.owl

gastrointestinal system cancer
type: Class
subclass of: organ system cancer
subclass of: gastrointestinal system disease
definition: An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
database_cross_reference: ICD10CM:C26.9
database_cross_reference: UMLS_CUI:C0685938
database_cross_reference: NCI:C4890
has_alternative_id: DOID:8377
has_obo_namespace: disease_ontology
id: DOID:3119
database_cross_reference: ICD9CM:239.0
has_alternative_id: DOID:4945
has_exact_synonym: GI tumor
database_cross_reference: MESH:D005770
database_cross_reference: MESH:D004067
database_cross_reference: NCI:C3052
database_cross_reference: UMLS_CUI:C0017185
database_cross_reference: SNOMEDCT_US_2020_03_01:428905002
database_cross_reference: UMLS_CUI:C0012243
database_cross_reference: SNOMEDCT_US_2020_03_01:276806006
database_cross_reference: SNOMEDCT_US_2020_03_01:128348002
has_exact_synonym: digestive system cancer
has_exact_synonym: gastrointestinal tract cancer
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

gallbladder cancer
type: Class
subclass of: gallbladder disease
subclass of: biliary tract cancer
database_cross_reference: NCI:C35676
database_cross_reference: NCI:C7481
database_cross_reference: SNOMEDCT_US_2020_03_01:93810008
has_alternative_id: DOID:8157
database_cross_reference: MESH:D005706
database_cross_reference: SNOMEDCT_US_2020_03_01:126854002
database_cross_reference: ICD10CM:C23
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3048
definition: A biliary tract cancer that is located_in the gallbladder.
has_alternative_id: DOID:8090
database_cross_reference: UMLS_CUI:C0016978
database_cross_reference: UMLS_CUI:C0153452
database_cross_reference: UMLS_CUI:C0278806
id: DOID:3121
database_cross_reference: ICD9CM:156.0
database_cross_reference: GARD:9328
has_exact_synonym: gallbladder Ca
has_exact_synonym: gallbladder neoplasm
has_exact_synonym: localized malignant gallbladder neoplasm
has_exact_synonym: malignant neoplasm of gallbladder
has_exact_synonym: malignant tumor of the gallbladder
has_exact_synonym: malignant tumour of gallbladder
has_exact_synonym: tumor of the gallbladder
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

gastric outlet obstruction
type: Class
subclass of: stomach disease
id: DOID:3122
database_cross_reference: MESH:D017219
database_cross_reference: SNOMEDCT_US_2020_03_01:196759006
database_cross_reference: UMLS_CUI:C0162651
has_obo_namespace: disease_ontology
has_exact_synonym: gastric outflow obstruction
imported from: doid.owl

multiple endocrine neoplasia
type: Class
subclass of: syndrome
id: DOID:3125
has_obo_namespace: disease_ontology
definition: A syndrome that is characterized by tumors in at least two endocrine glands.
has_exact_synonym: Multiple endocrine adenomatosis
imported from: doid.owl

proctitis
type: Class
subclass of: rectal disease
id: DOID:3127
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K62.89
definition: A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding.
has_narrow_synonym: ulcerative proctitis
database_cross_reference: NCI:C38011
database_cross_reference: UMLS_CUI:C0033246
database_cross_reference: MESH:D011349
database_cross_reference: SNOMEDCT_US_2020_03_01:266534007
in_subset: NCIthesaurus
imported from: doid.owl

anus disease
type: Class
subclass of: rectal disease
id: DOID:3128
has_obo_namespace: disease_ontology
has_alternative_id: DOID:11993
database_cross_reference: NCI:C26695
has_alternative_id: DOID:11479
has_exact_synonym: Nontraumatic tear of anus
database_cross_reference: SNOMEDCT_US_2020_03_01:32110003
database_cross_reference: UMLS_CUI:C0003462
database_cross_reference: MESH:D001004
has_exact_synonym: Solitary anal ulcer
has_exact_synonym: Ulcer of anus
has_exact_synonym: anal disease
has_exact_synonym: anal fissure
has_exact_synonym: anal fissure and fistula
has_exact_synonym: anal ulcer
has_exact_synonym: fissure in ano
in_subset: NCIthesaurus
imported from: doid.owl

porphyria cutanea tarda
type: Class
subclass of: acute porphyria
database_cross_reference: OMIM:176090
database_cross_reference: MESH:D017119
definition: An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
database_cross_reference: ICD10CM:E80.1
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:176100
database_cross_reference: ORDO:101330
id: DOID:3132
database_cross_reference: SNOMEDCT_US_2020_03_01:61860000
database_cross_reference: UMLS_CUI:C0162566
database_cross_reference: NCI:C27725
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:7433
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

acute porphyria
type: Class
subclass of: porphyria
definition: A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
id: DOID:3133
database_cross_reference: MESH:D017094
database_cross_reference: ORDO:100924
comment: Xref MGI.
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:612740
database_cross_reference: SNOMEDCT_US_2020_03_01:55056006
database_cross_reference: UMLS_CUI:C0162533
has_exact_synonym: hepatic porphyria
in_subset: DO rare slim
imported from: doid.owl

facial dermatosis
type: Class
subclass of: skin disease
id: DOID:3134
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0015456
database_cross_reference: MESH:D005148
imported from: doid.owl

scalp dermatosis
type: Class
subclass of: skin disease
database_cross_reference: SNOMEDCT_US_2020_03_01:402694007
database_cross_reference: UMLS_CUI:C0036271
has_obo_namespace: disease_ontology
id: DOID:3136
has_exact_synonym: Dermatosis of scalp
database_cross_reference: MESH:D012536
imported from: doid.owl

acanthosis nigricans
type: Class
subclass of: pigmentation disease
database_cross_reference: OMIM:100600
database_cross_reference: SNOMEDCT_US_2020_03_01:72129000
database_cross_reference: UMLS_CUI:C0000889
database_cross_reference: MESH:D000052
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:8603
database_cross_reference: OMIM:200170
database_cross_reference: ICD10CM:L83
id: DOID:3138
has_obo_namespace: disease_ontology
has_exact_synonym: AN - Acanthosis nigricans
has_exact_synonym: Acanthosis nigricans
has_exact_synonym: Keratosis nigricans
database_cross_reference: NCI:C26687
has_exact_synonym: keratosis nigricans
in_subset: NCIthesaurus
imported from: doid.owl

mucinoses
type: Class
subclass of: connective tissue disease
definition: A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue.
database_cross_reference: SNOMEDCT_US_2020_03_01:11528001
database_cross_reference: UMLS_CUI:C0162855
database_cross_reference: MESH:D017520
has_obo_namespace: disease_ontology
id: DOID:3141
imported from: doid.owl

cutis laxa
type: Class
subclass of: skin disease
database_cross_reference: ICD10CM:Q82.8
database_cross_reference: NCI:C84663
database_cross_reference: MESH:D003483
database_cross_reference: OMIM:PS123700
database_cross_reference: GARD:6227
database_cross_reference: ORDO:209
id: DOID:3144
has_exact_synonym: Cutis laxa
comment: Xref MGI.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0010495
database_cross_reference: SNOMEDCT_US_2020_03_01:238825007
definition: A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
has_exact_synonym: loose skin
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

lipid metabolism disorder
type: Class
subclass of: inherited metabolic disorder
definition: An inherited metabolic disorder that involves the creation and degradation of lipids.
database_cross_reference: MESH:D008052
database_cross_reference: UMLS_CUI:C0023772
id: DOID:3146
has_obo_namespace: disease_ontology
has_exact_synonym: dyslipidemia
has_exact_synonym: fatty acid metabolism disorder
in_subset: DO FlyBase slim
imported from: doid.owl

lipomatosis
type: Class
subclass of: skin disease
database_cross_reference: SNOMEDCT_US_2020_03_01:37095002
database_cross_reference: UMLS_CUI:C0023801
database_cross_reference: MESH:D008068
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E88.2
id: DOID:3153
imported from: doid.owl

hand dermatosis
type: Class
subclass of: skin disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0018567
id: DOID:3158
database_cross_reference: MESH:D006229
imported from: doid.owl

skin benign neoplasm
type: Class
subclass of: integumentary system benign neoplasm
subclass of: skin disease
database_cross_reference: MESH:D012878
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3372
id: DOID:3165
database_cross_reference: UMLS_CUI:C0037286
database_cross_reference: SNOMEDCT_US_2020_03_01:126488004
has_exact_synonym: neoplasm of skin
has_exact_synonym: neoplasm of skin by site
has_exact_synonym: skin neoplasm
has_exact_synonym: tumor of the skin
in_subset: NCIthesaurus
imported from: doid.owl

squamous cell neoplasm
type: Class
subclass of: cell type benign neoplasm
id: DOID:3168
database_cross_reference: SNOMEDCT_US_2020_03_01:118286007
definition: A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.
has_exact_synonym: Epidermoid cell tumor
database_cross_reference: MESH:D018307
database_cross_reference: NCI:C3792
database_cross_reference: UMLS_CUI:C0206720
has_obo_namespace: disease_ontology
has_exact_synonym: squamous cell tumor
in_subset: NCIthesaurus
imported from: doid.owl

papillary adenoma
type: Class
subclass of: adenoma
database_cross_reference: UMLS_CUI:C0205650
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000236
database_cross_reference: SNOMEDCT_US_2020_03_01:86143001
id: DOID:3172
database_cross_reference: NCI:C79951
has_exact_synonym: Papillary adenoma
has_exact_synonym: glandular papilloma
in_subset: NCIthesaurus
imported from: doid.owl

verrucous papilloma
type: Class
subclass of: papilloma
has_obo_namespace: disease_ontology
id: DOID:3177
database_cross_reference: NCI:C4101
database_cross_reference: UMLS_CUI:C0334243
database_cross_reference: SNOMEDCT_US_2020_03_01:48218007
in_subset: NCIthesaurus
imported from: doid.owl

skin papilloma
type: Class
subclass of: papilloma
subclass of: skin benign neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:189051001
database_cross_reference: UMLS_CUI:C0347390
database_cross_reference: NCI:C4614
has_obo_namespace: disease_ontology
has_exact_synonym: Cutaneous papilloma
id: DOID:3178
has_exact_synonym: cutaneous papilloma
has_exact_synonym: papilloma of skin
in_subset: NCIthesaurus
imported from: doid.owl

inverted papilloma
type: Class
subclass of: papilloma
id: DOID:3179
has_exact_synonym: Inverted papilloma, squamous cell
database_cross_reference: MESH:D018308
database_cross_reference: SNOMEDCT_US_2020_03_01:104081000119103
database_cross_reference: UMLS_CUI:C0206721
database_cross_reference: NCI:C3793
has_exact_synonym: Inverted papilloma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

progressive muscular atrophy
type: Class
subclass of: motor neuron disease
id: DOID:318
database_cross_reference: MESH:D009134
database_cross_reference: NCI:C85027
has_obo_namespace: disease_ontology
has_exact_synonym: Pure progressive muscular atrophy
database_cross_reference: SNOMEDCT_US_2020_03_01:88923002
database_cross_reference: UMLS_CUI:C0917981
database_cross_reference: ICD9CM:335.21
has_exact_synonym: progressive spinal muscular atrophy
in_subset: NCIthesaurus
imported from: doid.owl

oligodendroglioma
type: Class
subclass of: malignant glioma
database_cross_reference: MESH:D009837
database_cross_reference: UMLS_CUI:C1335110
database_cross_reference: NCI:C6960
database_cross_reference: NCI:C129319
database_cross_reference: SNOMEDCT_US_2020_03_01:73348003
has_alternative_id: DOID:3182
id: DOID:3181
database_cross_reference: UMLS_CUI:C0028945
database_cross_reference: GARD:9953
has_obo_namespace: disease_ontology
has_exact_synonym: oligodendroglial neoplasm
has_exact_synonym: oligodendroglial tumor
in_subset: NCIthesaurus
imported from: doid.owl

spinal cord glioma
type: Class
subclass of: malignant glioma
subclass of: spinal cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:254946004
id: DOID:3185
definition: A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells.
database_cross_reference: UMLS_CUI:C2937245
has_exact_synonym: Glial neoplasm Spinal Cord
has_exact_synonym: Glial tumor of spinal cord
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4534
has_exact_synonym: glioma of spinal cord
in_subset: NCIthesaurus
imported from: doid.owl

spinal cord disease
type: Class
subclass of: central nervous system disease
database_cross_reference: NCI:C97110
database_cross_reference: SNOMEDCT_US_2020_03_01:48522003
id: DOID:319
database_cross_reference: ICD10CM:G95.9
database_cross_reference: UMLS_CUI:C0037928
database_cross_reference: MESH:D013118
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:336.9
has_related_synonym: myelopathy
in_subset: NCIthesaurus
imported from: doid.owl

nemaline myopathy
type: Class
subclass of: congenital structural myopathy
database_cross_reference: ICD10CM:G71.2
id: DOID:3191
database_cross_reference: UMLS_CUI:C0206157
database_cross_reference: GARD:12033
has_exact_synonym: Nemaline body disease
database_cross_reference: SNOMEDCT_US_2020_03_01:75072002
database_cross_reference: ORDO:607
definition: A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies.
comment: Xref MGI.
database_cross_reference: MESH:D017696
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS161800
has_exact_synonym: nemaline rod myopathy
has_exact_synonym: rod myopathy
in_subset: DO FlyBase slim
in_subset: DO rare slim
imported from: doid.owl

neurilemmoma
type: Class
subclass of: neuroma
database_cross_reference: NCI:C3269
comment: A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.
database_cross_reference: MESH:D009442
id: DOID:3192
has_exact_synonym: Psammomatous schwannoma
database_cross_reference: SNOMEDCT_US_2020_03_01:985004
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027809
has_exact_synonym: schwannoma
in_subset: NCIthesaurus
imported from: doid.owl

peripheral nerve sheath neoplasm
type: Class
subclass of: peripheral nervous system neoplasm
has_obo_namespace: disease_ontology
definition: A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves.
database_cross_reference: UMLS_CUI:C0751689
id: DOID:3193
database_cross_reference: MESH:D018317
has_exact_synonym: neoplasm of the nerve Sheath
has_exact_synonym: nerve sheath tumour
in_subset: DO cancer slim
imported from: doid.owl

cerebellopontine angle tumor
type: Class
subclass of: brain stem cancer
definition: A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopotine angle.
has_exact_synonym: Cerebellopontine angle tumor
has_exact_synonym: Cerebellopontine angle tumour
has_obo_namespace: disease_ontology
id: DOID:3200
database_cross_reference: NCI:C5414
has_exact_synonym: cerebellopontine angle tumour
has_exact_synonym: neoplasm of the Cerebellopontine Angle
in_subset: NCIthesaurus
imported from: doid.owl

melanotic neurilemmoma
type: Class
subclass of: neurilemmoma
has_obo_namespace: disease_ontology
id: DOID:3205
has_exact_synonym: Melanotic Schwannoma
database_cross_reference: NCI:C6970
has_exact_synonym: Pigmented Neurilemmoma
has_exact_synonym: Pigmented schwannoma
database_cross_reference: SNOMEDCT_US_2020_03_01:253088003
database_cross_reference: UMLS_CUI:C1306247
has_exact_synonym: Melanotic neurilemmoma
in_subset: NCIthesaurus
imported from: doid.owl

junctional epidermolysis bullosa
type: Class
subclass of: epidermolysis bullosa
database_cross_reference: NCI:C90598
id: DOID:3209
has_obo_namespace: disease_ontology
comment: Xref MGI.
database_cross_reference: UMLS_CUI:C0079301
definition: An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
database_cross_reference: SNOMEDCT_US_2020_03_01:76905008
database_cross_reference: MESH:D016109
database_cross_reference: GARD:2152
has_exact_synonym: congenital junctional epidermolysis bullosa
in_subset: NCIthesaurus
imported from: doid.owl

tropical spastic paraparesis
type: Class
subclass of: spinal cord disease
subclass of: viral infectious disease
database_cross_reference: ICD10CM:G04.1
database_cross_reference: UMLS_CUI:C0030481
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: OMIM:159580
database_cross_reference: SNOMEDCT_US_2020_03_01:45129002
id: DOID:321
definition: A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.
has_exact_synonym: HTLV-associated myelopathy
has_exact_synonym: Tropical spastic paralysis
has_exact_synonym: Tropical spastic paraplegia
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015493
imported from: doid.owl

Pelizaeus-Merzbacher disease
type: Class
subclass of: hypomyelinating leukodystrophy
subclass of: X-linked recessive disease
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:312080
database_cross_reference: SNOMEDCT_US_2020_03_01:64855000
database_cross_reference: MESH:D020371
database_cross_reference: NCI:C75487
id: DOID:3210
definition: A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
has_exact_synonym: HLD1
has_exact_synonym: PMD
has_exact_synonym: Pelizaeus Merzbacher brain sclerosis
database_cross_reference: UMLS_CUI:C0205711
database_cross_reference: ORDO:702
database_cross_reference: GARD:4265
has_exact_synonym: Leukodystrophy, sudanophilic
has_exact_synonym: Pelizaeus-Merzbacher brain sclerosis
has_exact_synonym: diffuse familial brain sclerosis
has_exact_synonym: hypomyelinating leukodystrophy 1
has_exact_synonym: sudanophilic leukodystrophy, Paelizeus-Merzbacher type
in_subset: NCIthesaurus
imported from: doid.owl

lysosomal storage disease
type: Class
subclass of: inherited metabolic disorder
database_cross_reference: MESH:D016464
database_cross_reference: UMLS_CUI:C0085078
has_obo_namespace: disease_ontology
id: DOID:3211
database_cross_reference: NCI:C61250
definition: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
database_cross_reference: SNOMEDCT_US_2020_03_01:23585005
has_exact_synonym: disorder of lysosomal enzyme
has_exact_synonym: inborn lysosomal enzyme disorder
has_exact_synonym: lysosomal storage metabolism disorder
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

demyelinating disease
type: Class
subclass of: neurodegenerative disease
definition: A neurodegenerative disease that is characterized by damage to the myelin sheath present around nerve axons.
database_cross_reference: NCI:C34527
database_cross_reference: UMLS_CUI:C0011303
has_obo_namespace: disease_ontology
id: DOID:3213
database_cross_reference: MESH:D003711
has_exact_synonym: demyelinating disorder
in_subset: NCIthesaurus
imported from: doid.owl

myelitis
type: Class
subclass of: spinal cord disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26832
database_cross_reference: GARD:7130
database_cross_reference: UMLS_CUI:C0026975
definition: A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.
id: DOID:322
database_cross_reference: SNOMEDCT_US_2020_03_01:192682002
database_cross_reference: MESH:D009187
in_subset: NCIthesaurus
imported from: doid.owl

complex regional pain syndrome
type: Class
subclass of: autonomic nervous system disease
id: DOID:3223
database_cross_reference: GARD:4647
database_cross_reference: UMLS_CUI:C0458219
database_cross_reference: MESH:D020918
database_cross_reference: SNOMEDCT_US_2020_03_01:128200000
has_exact_synonym: Complex regional pain syndromes
has_obo_namespace: disease_ontology
imported from: doid.owl

tracheal disease
type: Class
subclass of: upper respiratory tract disease
database_cross_reference: SNOMEDCT_US_2020_03_01:47125007
database_cross_reference: MESH:D014133
database_cross_reference: ICD10CM:S12.8
id: DOID:3225
database_cross_reference: UMLS_CUI:C0040580
database_cross_reference: NCI:C35079
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

tracheal stenosis
type: Class
subclass of: tracheal disease
database_cross_reference: UMLS_CUI:C0040583
database_cross_reference: MESH:D014135
id: DOID:3227
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:11296007
database_cross_reference: NCI:C78646
has_exact_synonym: Stenosis of trachea
in_subset: NCIthesaurus
imported from: doid.owl

gastric dilatation
type: Class
subclass of: stomach disease
database_cross_reference: UMLS_CUI:C0038353
id: DOID:3229
database_cross_reference: MESH:D013271
has_obo_namespace: disease_ontology
has_exact_synonym: stomach dilatation
imported from: doid.owl

high pressure neurological syndrome
type: Class
subclass of: central nervous system disease
database_cross_reference: UMLS_CUI:C0019537
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D006610
id: DOID:3230
imported from: doid.owl

central nervous system lymphoma
type: Class
subclass of: lymphoma
subclass of: central nervous system hematologic cancer
definition: A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.
database_cross_reference: ICD9CM:200.5
has_obo_namespace: disease_ontology
id: DOID:3234
has_alternative_id: DOID:3233
database_cross_reference: NCI:C9301
database_cross_reference: UMLS_CUI:C0280803
database_cross_reference: SNOMEDCT_US_2020_03_01:307649006
has_exact_synonym: Microglioma
has_exact_synonym: primary CNS lymphoma
in_subset: NCIthesaurus
imported from: doid.owl

aspiration pneumonitis
type: Class
subclass of: pneumonia
database_cross_reference: MESH:D011015
has_exact_synonym: Chemical pneumonitis
database_cross_reference: ICD10CM:J69.0
has_alternative_id: DOID:13016
has_exact_synonym: Mendelson's Syndrome
database_cross_reference: UMLS_CUI:C0032290
has_obo_namespace: disease_ontology
id: DOID:3240
database_cross_reference: SNOMEDCT_US_2020_03_01:47839005
has_alternative_id: DOID:13506
definition: A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration.
in_subset: NCIthesaurus
imported from: doid.owl

lipid pneumonia
type: Class
subclass of: aspiration pneumonitis
definition: An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent.
database_cross_reference: MESH:D011017
database_cross_reference: UMLS_CUI:C0032298
database_cross_reference: ICD10CM:J69.1
has_alternative_id: DOID:13015
has_obo_namespace: disease_ontology
id: DOID:3241
has_exact_synonym: Lipoid pneumonitis
database_cross_reference: SNOMEDCT_US_2020_03_01:196038008
has_exact_synonym: Exogenous lipoid pneumonia
imported from: doid.owl

embryonal rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
database_cross_reference: GARD:4702
database_cross_reference: OMIM:268210
database_cross_reference: UMLS_CUI:C0206656
database_cross_reference: ORDO:99757
has_obo_namespace: disease_ontology
comment: Xref MGI.
database_cross_reference: MESH:D018233
database_cross_reference: NCI:C8971
database_cross_reference: SNOMEDCT_US_2020_03_01:404051002
id: DOID:3246
definition: A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs.
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

rhabdomyosarcoma
type: Class
subclass of: skeletal muscle cancer
definition: A skeletal muscle cancer that arise from skeletal muscle progenitors.
database_cross_reference: UMLS_CUI:C0035412
database_cross_reference: SNOMEDCT_US_2020_03_01:302847003
database_cross_reference: MESH:D012208
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3359
id: DOID:3247
in_subset: NCIthesaurus
imported from: doid.owl

prostate rhabdomyosarcoma
type: Class
subclass of: prostate sarcoma
database_cross_reference: NCI:C5522
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1335518
definition: A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate.
id: DOID:3252
has_exact_synonym: Rhabdomyosarcoma of the prostate
in_subset: NCIthesaurus
imported from: doid.owl

ischemia
type: Class
subclass of: vascular disease
definition: A vascular disease that is characterized by a restriction in blood supply to tissues.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007511
database_cross_reference: NCI:C34738
database_cross_reference: UMLS_CUI:C0022116
database_cross_reference: SNOMEDCT_US_2020_03_01:52674009
id: DOID:326
in_subset: NCIthesaurus
imported from: doid.owl

hyper IgE recurrent infection syndrome 1
type: Class
subclass of: autosomal dominant disease
subclass of: hyper IgE syndrome
database_cross_reference: OMIM:147060
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:2314
database_cross_reference: UMLS_CUI:C2936739
database_cross_reference: MESH:D007589
definition: A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
id: DOID:3261
has_exact_synonym: Job syndrome
has_exact_synonym: Job's syndrome
database_cross_reference: UMLS_CUI:C1968689
database_cross_reference: NCI:C126342
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:6800
has_exact_synonym: hyperimmunoglobulin E syndrome
in_subset: NCIthesaurus
imported from: doid.owl

phagocyte bactericidal dysfunction
type: Class
subclass of: primary immunodeficiency disease
database_cross_reference: MESH:D010585
id: DOID:3262
definition: A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.
database_cross_reference: UMLS_CUI:C0031306
has_obo_namespace: disease_ontology
has_exact_synonym: phagocytic dysfunction
imported from: doid.owl

piebaldism
type: Class
subclass of: autosomal dominant disease
subclass of: integumentary system disease
definition: An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:E70.39
database_cross_reference: UMLS_CUI:C0080024
database_cross_reference: GARD:4344
database_cross_reference: OMIM:172800
database_cross_reference: NCI:C85009
database_cross_reference: MESH:D016116
database_cross_reference: SNOMEDCT_US_2020_03_01:718122005
database_cross_reference: ORDO:2884
has_obo_namespace: disease_ontology
id: DOID:3263
has_exact_synonym: PIEBALD TRAIT
has_exact_synonym: Partial albinism
in_subset: NCIthesaurus
imported from: doid.owl

chronic granulomatous disease
type: Class
subclass of: bone disease
subclass of: phagocyte bactericidal dysfunction
subclass of: skin disease
subclass of: lung disease
database_cross_reference: UMLS_CUI:C0018203
has_exact_synonym: Bridges-Good syndrome
database_cross_reference: GARD:6100
id: DOID:3265
database_cross_reference: NCI:C26788
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D71
definition: A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
database_cross_reference: SNOMEDCT_US_2020_03_01:11210002
database_cross_reference: MESH:D006105
has_exact_synonym: CGD
has_exact_synonym: Congenital dysphagocytosis
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:379
has_exact_synonym: Quie syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

ovarian cystadenoma
type: Class
subclass of: ovarian benign neoplasm
definition: An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.
database_cross_reference: NCI:C4060
database_cross_reference: SNOMEDCT_US_2020_03_01:198297004
has_exact_synonym: Cystoma Serosum simplex
database_cross_reference: UMLS_CUI:C0346169
has_obo_namespace: disease_ontology
id: DOID:3269
has_exact_synonym: simple cystoma of ovary
has_exact_synonym: simple cystoma of the ovary
in_subset: NCIthesaurus
imported from: doid.owl

syringomyelia
type: Class
subclass of: spinal cord disease
database_cross_reference: MESH:D013595
database_cross_reference: UMLS_CUI:C0039144
database_cross_reference: SNOMEDCT_US_2020_03_01:155020007
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C85179
database_cross_reference: ORDO:3280
id: DOID:327
database_cross_reference: OMIM:186700
database_cross_reference: GARD:7725
in_subset: NCIthesaurus
imported from: doid.owl

thymoma
type: Class
subclass of: thymus cancer
id: DOID:3275
database_cross_reference: MESH:D013945
definition: A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.
database_cross_reference: NCI:C3411
database_cross_reference: UMLS_CUI:C0040100
database_cross_reference: SNOMEDCT_US_2020_03_01:444231005
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

thymus cancer
type: Class
subclass of: lymphatic system cancer
subclass of: endocrine gland cancer
subclass of: thymus gland disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0751552
database_cross_reference: ICD10CM:C37
database_cross_reference: SNOMEDCT_US_2020_03_01:94096009
has_alternative_id: DOID:10143
id: DOID:3277
database_cross_reference: NCI:C4962
definition: An immune system cancer located_in the thymus.
database_cross_reference: MESH:D013953
database_cross_reference: ICD9CM:164.0
has_exact_synonym: Thymic tumor
has_exact_synonym: neoplasm of thymus
has_exact_synonym: thymic neoplasm
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

dendritic cell thymoma
type: Class
subclass of: hematologic cancer
subclass of: thymoma
subclass of: leukocyte disease
database_cross_reference: NCI:C7114
id: DOID:3282
database_cross_reference: UMLS_CUI:C1328042
has_obo_namespace: disease_ontology
has_exact_synonym: epithelioid Thymoma
in_subset: NCIthesaurus
imported from: doid.owl

thymic carcinoma
type: Class
subclass of: carcinoma
subclass of: thymus cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:128717008
database_cross_reference: NCI:C7569
has_obo_namespace: disease_ontology
definition: A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found.
id: DOID:3284
database_cross_reference: MESH:D013945
has_exact_synonym: Thymic carcinoma
has_exact_synonym: Thymoma, malignant
database_cross_reference: UMLS_CUI:C0205969
has_exact_synonym: malignant Thymoma
in_subset: NCIthesaurus
imported from: doid.owl

monkeypox
type: Class
subclass of: viral infectious disease
database_cross_reference: NCI:C128421
id: DOID:3292
definition: A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus, which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy.
database_cross_reference: MESH:D045908
database_cross_reference: GARD:10722
database_cross_reference: ICD10CM:B04
database_cross_reference: UMLS_CUI:C0276180
database_cross_reference: SNOMEDCT_US_2020_03_01:240466002
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:059.01
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

vaccinia
type: Class
subclass of: viral infectious disease
id: DOID:3298
database_cross_reference: SNOMEDCT_US_2020_03_01:111852003
database_cross_reference: UMLS_CUI:C0042214
definition: A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches.
database_cross_reference: MESH:D014615
has_obo_namespace: disease_ontology
imported from: doid.owl

gonadoblastoma
type: Class
subclass of: cell type benign neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3754
definition: A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells).
id: DOID:3301
database_cross_reference: SNOMEDCT_US_2020_03_01:74751003
database_cross_reference: UMLS_CUI:C0206661
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:424500
database_cross_reference: MESH:D018238
in_subset: NCIthesaurus
imported from: doid.owl

chordoma
type: Class
subclass of: notochordal cancer
database_cross_reference: UMLS_CUI:C0008487
database_cross_reference: NCI:C2947
has_obo_namespace: disease_ontology
id: DOID:3302
database_cross_reference: SNOMEDCT_US_2020_03_01:50007008
database_cross_reference: MESH:D002817
database_cross_reference: GARD:1303
definition: A notochordal cancer that derives_from cellular remnants of the notochord.
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: notochordoma
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

notochordal cancer
type: Class
subclass of: bone cancer
id: DOID:3303
database_cross_reference: NCI:C7063
has_obo_namespace: disease_ontology
definition: An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord.
database_cross_reference: UMLS_CUI:C1335069
has_related_synonym: notochordal tumor
in_subset: NCIthesaurus
imported from: doid.owl

germinoma
type: Class
subclass of: germ cell cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:154603000
definition: A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
database_cross_reference: MESH:D018237
database_cross_reference: NCI:C3753
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0206660
id: DOID:3304
in_subset: NCIthesaurus
imported from: doid.owl

teratocarcinoma
type: Class
subclass of: germ cell and embryonal cancer
id: DOID:3305
database_cross_reference: SNOMEDCT_US_2020_03_01:67830002
database_cross_reference: MESH:D018243
has_obo_namespace: disease_ontology
definition: A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both.
database_cross_reference: UMLS_CUI:C0206664
database_cross_reference: NCI:C3756
has_exact_synonym: Teratocarcinoma
has_exact_synonym: mixed Embryonal carcinoma and teratoma
in_subset: NCIthesaurus
imported from: doid.owl

teratoma
type: Class
subclass of: germ cell and embryonal cancer
database_cross_reference: MESH:D013724
id: DOID:3307
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0039538
database_cross_reference: SNOMEDCT_US_2020_03_01:36591000119102
database_cross_reference: NCI:C3403
definition: A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
in_subset: NCIthesaurus
imported from: doid.owl

embryonal carcinoma
type: Class
subclass of: carcinoma
subclass of: embryonal cancer
database_cross_reference: NCI:C8880
database_cross_reference: UMLS_CUI:C0206659
database_cross_reference: SNOMEDCT_US_2020_03_01:28047004
has_obo_namespace: disease_ontology
has_alternative_id: DOID:5676
database_cross_reference: MESH:D018236
definition: An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
id: DOID:3308
database_cross_reference: UMLS_CUI:C0855159
database_cross_reference: NCI:C3752
database_cross_reference: GARD:5140
has_exact_synonym: primary extragonadal embryonal carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

central nervous system disease
type: Class
subclass of: nervous system disease
database_cross_reference: MESH:D002493
database_cross_reference: SNOMEDCT_US_2020_03_01:267144009
database_cross_reference: UMLS_CUI:C0007682
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2934
definition: A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
database_cross_reference: ICD10CM:G96.9
id: DOID:331
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: NCIthesaurus
imported from: doid.owl

atopic dermatitis
type: Class
subclass of: allergic contact dermatitis
database_cross_reference: OMIM:PS603165
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
has_exact_synonym: Besnier's prurigo
database_cross_reference: EFO:0000274
database_cross_reference: UMLS_CUI:C0011615
database_cross_reference: OMIM:603165
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L20
has_exact_synonym: Atopic dermatitis
has_exact_synonym: Atopic neurodermatitis
database_cross_reference: SNOMEDCT_US_2020_03_01:156331003
database_cross_reference: MESH:D003876
id: DOID:3310
has_exact_synonym: allergic dermatitis
has_exact_synonym: atopic eczema
imported from: doid.owl

bipolar disorder
type: Class
subclass of: mood disorder
database_cross_reference: GARD:10249
has_alternative_id: DOID:3311
database_cross_reference: UMLS_CUI:C0236780
has_alternative_id: DOID:9554
has_alternative_id: DOID:9555
definition: A mood disorder that involves alternating periods of mania and depression.
id: DOID:3312
database_cross_reference: SNOMEDCT_US_2020_03_01:191627008
database_cross_reference: UMLS_CUI:C0024713
database_cross_reference: SNOMEDCT_US_2020_03_01:16506000
database_cross_reference: MESH:D001714
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0000289
database_cross_reference: SNOMEDCT_US_2020_03_01:192355004
database_cross_reference: ICD9CM:296.60
database_cross_reference: ICD9CM:296.40
database_cross_reference: ICD10CM:F31
has_related_synonym: Depressive-manic psych.
database_cross_reference: ICD9CM:296.80
has_exact_synonym: Manic Depressive disorder
database_cross_reference: NCI:C34805
database_cross_reference: SNOMEDCT_US_2020_03_01:68569003
database_cross_reference: UMLS_CUI:C0005587
database_cross_reference: UMLS_CUI:C0005586
has_exact_synonym: Manic Bipolar Affective disorder
database_cross_reference: NCI:C34423
database_cross_reference: NCI:C34424
has_exact_synonym: Manic bipolar I disorder
has_exact_synonym: bipolar depression
has_exact_synonym: bipolar disorder manic phase
has_exact_synonym: manic depression
has_exact_synonym: manic disorder
has_exact_synonym: mixed bipolar disorder
in_subset: NCIthesaurus
imported from: doid.owl

angiomyolipoma
type: Class
subclass of: cell type benign neoplasm
has_exact_synonym: Angiomyolipoma
database_cross_reference: UMLS_CUI:C0206633
database_cross_reference: MESH:D018207
id: DOID:3314
database_cross_reference: NCI:C3734
has_obo_namespace: disease_ontology
definition: A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.
database_cross_reference: SNOMEDCT_US_2020_03_01:19929002
in_subset: NCIthesaurus
imported from: doid.owl

lipoma
type: Class
subclass of: cell type benign neoplasm
database_cross_reference: UMLS_CUI:C0206631
has_alternative_id: DOID:9291
has_alternative_id: DOID:3154
definition: A cell type benign neoplasm that is composed of lipocytes.
database_cross_reference: OMIM:151900
database_cross_reference: SNOMEDCT_US_2020_03_01:154612003
database_cross_reference: SNOMEDCT_US_2020_03_01:115227001
database_cross_reference: ICD10CM:D17
database_cross_reference: UMLS_CUI:C0346118
database_cross_reference: SNOMEDCT_US_2020_03_01:254830006
database_cross_reference: NCI:C4502
database_cross_reference: NCI:C4248
database_cross_reference: ICD10CM:D17.9
has_exact_synonym: LIPOMATOSIS, FAMILIAL MULTIPLE
database_cross_reference: MESH:D008067
database_cross_reference: NCI:C3192
database_cross_reference: UMLS_CUI:C0023798
database_cross_reference: ICD9CM:214
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D018205
has_obo_namespace: disease_ontology
id: DOID:3315
has_exact_synonym: Lipomatous neoplasm
has_exact_synonym: Lipomatous tumor
has_exact_synonym: benign lipomatous tumor
has_exact_synonym: benign tumor of Adipose tissue
has_exact_synonym: multiple lipomatosis
has_exact_synonym: tumor of adipose tissue
in_subset: NCIthesaurus
imported from: doid.owl

perivascular tumor
type: Class
subclass of: vascular cancer
has_alternative_id: DOID:5234
id: DOID:3316
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1335392
database_cross_reference: NCI:C6530
database_cross_reference: NCI:C6528
database_cross_reference: UMLS_CUI:C1334611
has_exact_synonym: malignant perivascular cancer
in_subset: NCIthesaurus
imported from: doid.owl

lymphangioleiomyomatosis
type: Class
subclass of: lung disease
database_cross_reference: ORDO:538
definition: A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.
database_cross_reference: OMIM:606690
database_cross_reference: GARD:3319
database_cross_reference: NCI:C38153
has_obo_namespace: disease_ontology
id: DOID:3319
has_alternative_id: DOID:3682
database_cross_reference: UMLS_CUI:C0349649
database_cross_reference: SNOMEDCT_US_2020_03_01:277844007
has_exact_synonym: lung lymphangioleiomyomatosis
has_exact_synonym: lymphangiomyomatosis
has_exact_synonym: pulmonary lymphangioleiomyomatosis
in_subset: NCIthesaurus
imported from: doid.owl

amyotrophic lateral sclerosis
type: Class
subclass of: monogenic disease
subclass of: motor neuron disease
database_cross_reference: ORDO:803
database_cross_reference: UMLS_CUI:C0002736
database_cross_reference: ICD10CM:G12.21
has_exact_synonym: ALS
id: DOID:332
database_cross_reference: SNOMEDCT_US_2020_03_01:86044005
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:PS105400
database_cross_reference: KEGG:05014
database_cross_reference: ICD9CM:335.20
database_cross_reference: EFO:0000253
has_exact_synonym: Lou Gehrig's disease
database_cross_reference: MESH:D000690
database_cross_reference: NCI:C34373
definition: A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
database_cross_reference: GARD:5786
has_exact_synonym: motor neuron disease, bulbar
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Tay-Sachs disease
type: Class
subclass of: GM2 gangliosidosis
database_cross_reference: NCI:C85184
database_cross_reference: MESH:D013661
id: DOID:3320
database_cross_reference: GARD:7737
database_cross_reference: SNOMEDCT_US_2020_03_01:111385000
has_exact_synonym: GM2 gangliosidosis, type 1
database_cross_reference: UMLS_CUI:C0039373
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:272800
has_exact_synonym: A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
database_cross_reference: ICD10CM:E75.02
has_exact_synonym: hexosaminidase A deficiency
in_subset: NCIthesaurus
imported from: doid.owl

GM2 gangliosidosis
type: Class
subclass of: gangliosidosis
definition: A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
database_cross_reference: ICD10CM:E75.0
database_cross_reference: UMLS_CUI:C0268274
database_cross_reference: SNOMEDCT_US_2020_03_01:33316007
has_obo_namespace: disease_ontology
id: DOID:3321
database_cross_reference: MESH:D020143
has_exact_synonym: gangliosidosis GM2
imported from: doid.owl

Sandhoff disease
type: Class
subclass of: GM2 gangliosidosis
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:268800
database_cross_reference: UMLS_CUI:C0036161
database_cross_reference: NCI:C85052
id: DOID:3323
database_cross_reference: ICD10CM:E75.01
definition: A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.
database_cross_reference: SNOMEDCT_US_2020_03_01:23849003
database_cross_reference: MESH:D012497
database_cross_reference: GARD:7604
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Sandhoff Jatzkewitz disease
in_subset: NCIthesaurus
imported from: doid.owl

mood disorder
type: Class
subclass of: cognitive disorder
database_cross_reference: MESH:D019964
database_cross_reference: ICD10CM:F39
database_cross_reference: SNOMEDCT_US_2020_03_01:46206005
id: DOID:3324
database_cross_reference: UMLS_CUI:C0525045
has_obo_namespace: disease_ontology
comment: Updating outdated UMLS CUI.
definition: A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.
database_cross_reference: EFO:0004247
database_cross_reference: NCI:C92200
has_exact_synonym: episodic mood disorder
in_subset: NCIthesaurus
imported from: doid.owl

hyperglobulinemic purpura
type: Class
subclass of: purpura
id: DOID:3325
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:402852007
database_cross_reference: MESH:D011694
database_cross_reference: UMLS_CUI:C0034151
imported from: doid.owl

purpura
type: Class
subclass of: hemorrhagic disease
database_cross_reference: UMLS_CUI:C0034150
database_cross_reference: ICD10CM:D69.2
database_cross_reference: SNOMEDCT_US_2020_03_01:423902002
database_cross_reference: MESH:D011693
database_cross_reference: NCI:C78787
id: DOID:3326
has_exact_synonym: Purpuric disorder
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

benign epilepsy with centrotemporal spikes
type: Class
subclass of: childhood electroclinical syndrome
has_obo_namespace: disease_ontology
id: DOID:3329
has_exact_synonym: BCECTS
database_cross_reference: MESH:D019305
database_cross_reference: OMIM:117100
database_cross_reference: UMLS_CUI:C0376532
has_exact_synonym: benign Rolandic epilepsy
has_exact_synonym: benign childhood epilepsy with centrotemporal spike
has_exact_synonym: rolandic epilepsy
has_exact_synonym: sylvan seizures
imported from: doid.owl

histrionic personality disorder
type: Class
subclass of: personality disorder
database_cross_reference: NCI:C92634
database_cross_reference: ICD10CM:F60.4
definition: A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood.
has_obo_namespace: disease_ontology
id: DOID:334
database_cross_reference: ICD9CM:301.5
database_cross_reference: UMLS_CUI:C0019681
database_cross_reference: MESH:D006677
database_cross_reference: SNOMEDCT_US_2020_03_01:192489002
in_subset: NCIthesaurus
imported from: doid.owl

osteitis fibrosa
type: Class
subclass of: bone resorption disease
definition: A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:190451000
database_cross_reference: NCI:C34875
has_exact_synonym: Osteitis fibrosa cystica generalisata
database_cross_reference: UMLS_CUI:C0029405
id: DOID:3341
database_cross_reference: MESH:D010002
has_exact_synonym: Von Recklinghausen's bone disease
has_exact_synonym: hyperparathyroid bone disease
in_subset: NCIthesaurus
imported from: doid.owl

bone inflammation disease
type: Class
subclass of: bone disease
database_cross_reference: UMLS_CUI:C0029400
definition: A bone disease that results_in inflammation of the located_in bone.
database_cross_reference: MESH:D010000
id: DOID:3342
database_cross_reference: SNOMEDCT_US_2020_03_01:274144001
has_obo_namespace: disease_ontology
has_exact_synonym: Inflammatory disorder of bone
has_exact_synonym: bone inflammatory disease
has_exact_synonym: osteitis
imported from: doid.owl

glycoproteinosis
type: Class
subclass of: mucolipidosis
database_cross_reference: UMLS_CUI:C0026697
definition: A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
database_cross_reference: GARD:10670
database_cross_reference: SNOMEDCT_US_2020_03_01:70528007
comment: OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference: MESH:D009081
id: DOID:3343
has_exact_synonym: Mucolipidosis type I
database_cross_reference: NCI:C61267
database_cross_reference: OMIM:256550
has_obo_namespace: disease_ontology
has_exact_synonym: sialidosis
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

xanthomatosis
type: Class
subclass of: lipid storage disease
database_cross_reference: UMLS_CUI:C0043325
definition: A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.
database_cross_reference: MESH:D014973
database_cross_reference: SNOMEDCT_US_2020_03_01:63103006
has_obo_namespace: disease_ontology
id: DOID:3345
has_exact_synonym: xanthelasmatosis
imported from: doid.owl

osteosarcoma
type: Class
subclass of: bone sarcoma
database_cross_reference: GARD:7284
database_cross_reference: OMIM:259500
database_cross_reference: UMLS_CUI:C0029463
id: DOID:3347
has_alternative_id: DOID:183
database_cross_reference: SNOMEDCT_US_2020_03_01:189878003
database_cross_reference: MESH:D012516
database_cross_reference: MESH:D018213
database_cross_reference: ORDO:668
definition: A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin.
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Skeletal sarcoma
database_cross_reference: UMLS_CUI:C0206639
database_cross_reference: NCI:C9145
has_exact_synonym: Osteogenic sarcoma
has_exact_synonym: bone tissue neoplasm
has_obo_namespace: disease_ontology
has_exact_synonym: osteoid sarcoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

mesenchymal cell neoplasm
type: Class
subclass of: cell type cancer
database_cross_reference: NCI:C6587
database_cross_reference: NCI:C7059
id: DOID:3350
definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:1630
database_cross_reference: UMLS_CUI:C1332517
database_cross_reference: UMLS_CUI:C1334699
has_exact_synonym: benign miscellaneous mesenchymal tumor
has_exact_synonym: mesenchymal tumor
in_subset: NCIthesaurus
imported from: doid.owl

fibrosarcoma
type: Class
subclass of: connective tissue cancer
database_cross_reference: UMLS_CUI:C0206643
database_cross_reference: UMLS_CUI:C1336021
database_cross_reference: NCI:C7075
database_cross_reference: MESH:D005354
database_cross_reference: NCI:C3043
database_cross_reference: GARD:2327
database_cross_reference: UMLS_CUI:C0016057
definition: A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
id: DOID:3355
has_alternative_id: DOID:3509
has_alternative_id: DOID:156
has_exact_synonym: Fibrocytic tumor
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6605
database_cross_reference: MESH:D018218
database_cross_reference: SNOMEDCT_US_2020_03_01:443250000
has_exact_synonym: fibrosarcoma of soft tissue
has_exact_synonym: fibrous tissue neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

localized osteosarcoma
type: Class
subclass of: osteosarcoma
id: DOID:3356
database_cross_reference: UMLS_CUI:C0278511
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7780
has_exact_synonym: localised Osteogenic sarcoma
has_exact_synonym: localised osteosarcoma
has_exact_synonym: localized Osteogenic sarcoma
in_subset: NCIthesaurus
imported from: doid.owl

coronary aneurysm
type: Class
subclass of: heart aneurysm
has_exact_synonym: Aneurysm of coronary vessels
id: DOID:3362
database_cross_reference: MESH:D003323
database_cross_reference: UMLS_CUI:C0010051
database_cross_reference: GARD:6200
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:I25.41
has_exact_synonym: Aneurysmal lesion of coronary artery
database_cross_reference: SNOMEDCT_US_2020_03_01:50570003
database_cross_reference: ICD9CM:414.11
has_exact_synonym: Arteriovenous aneurysm of coronary vessels
imported from: doid.owl

Ewing sarcoma
type: Class
subclass of: sarcoma
subclass of: connective tissue cancer
has_alternative_id: DOID:4158
database_cross_reference: SNOMEDCT_US_2020_03_01:76909002
database_cross_reference: UMLS_CUI:C0796547
database_cross_reference: UMLS_CUI:C1334408
database_cross_reference: SNOMEDCT_US_2020_03_01:73676002
has_alternative_id: DOID:4392
has_alternative_id: DOID:4391
has_alternative_id: DOID:4390
database_cross_reference: OMIM:612219
database_cross_reference: NCI:C7542
database_cross_reference: SNOMEDCT_US_2020_03_01:134210007
has_alternative_id: DOID:4980
has_alternative_id: DOID:0050607
database_cross_reference: MESH:D018241
database_cross_reference: GARD:6390
database_cross_reference: UMLS_CUI:C0877849
definition: A connective tissue cancer that has_material_basis in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
database_cross_reference: UMLS_CUI:C0553580
id: DOID:3369
has_exact_synonym: Ewing's family localized tumor
has_exact_synonym: Ewing's sarcoma/peripheral primitive neuroectodermal tumor
has_exact_synonym: Ewing's tumor
has_exact_synonym: Ewings sarcoma
has_exact_synonym: Ewings sarcoma-primitive neuroectodermal tumor
database_cross_reference: MESH:D012512
database_cross_reference: MESH:C563168
database_cross_reference: UMLS_CUI:C0863029
database_cross_reference: NCI:C7806
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0684337
database_cross_reference: NCI:C4817
database_cross_reference: NCI:C27901
database_cross_reference: NCI:C9341
database_cross_reference: NCI:C27903
has_exact_synonym: PNET of Thoracopulmonary Region
has_obo_namespace: disease_ontology
has_exact_synonym: localized Ewing sarcoma
has_exact_synonym: localized Ewing's sarcoma
has_exact_synonym: localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor
has_exact_synonym: localized Ewing's tumor
has_exact_synonym: localized peripheral primitive neuroectodermal tumor
has_exact_synonym: peripheral primitive neuroectodermal tumor
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

chondrosarcoma
type: Class
subclass of: bone sarcoma
database_cross_reference: SNOMEDCT_US_2020_03_01:735679005
has_exact_synonym: Cartilaginous cancer
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:443520009
database_cross_reference: NCI:C2946
has_alternative_id: DOID:3370
database_cross_reference: UMLS_CUI:C0008479
database_cross_reference: NCI:C7155
definition: A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.
id: DOID:3371
database_cross_reference: GARD:6004
database_cross_reference: OMIM:215300
database_cross_reference: MESH:D002813
database_cross_reference: GARD:6055
has_exact_synonym: chondrosarcoma of bone
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1335473
has_exact_synonym: primary chondrosarcoma of the bone
in_subset: NCIthesaurus
imported from: doid.owl

juxtacortical osteosarcoma
type: Class
subclass of: peripheral osteosarcoma
id: DOID:3373
database_cross_reference: UMLS_CUI:C0206642
database_cross_reference: NCI:C8969
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018217
has_exact_synonym: Parosteal Osteogenic sarcoma
has_exact_synonym: Parosteal Osteosarcoma
database_cross_reference: SNOMEDCT_US_2020_03_01:91242000
in_subset: NCIthesaurus
imported from: doid.owl

peripheral osteosarcoma
type: Class
subclass of: bone osteosarcoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7134
id: DOID:3374
has_exact_synonym: Surface Osteosarcoma
database_cross_reference: UMLS_CUI:C1332591
in_subset: NCIthesaurus
imported from: doid.owl

bone osteosarcoma
type: Class
subclass of: osteosarcoma
database_cross_reference: NCI:C53707
database_cross_reference: UMLS_CUI:C0585442
database_cross_reference: SNOMEDCT_US_2020_03_01:307576001
has_alternative_id: DOID:8580
id: DOID:3376
has_exact_synonym: Osteosarcoma of bone
has_obo_namespace: disease_ontology
has_exact_synonym: primary Osteosarcoma of bone
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

small cell osteogenic sarcoma
type: Class
subclass of: conventional central osteosarcoma
id: DOID:3377
database_cross_reference: NCI:C4023
has_exact_synonym: Round cell osteosarcoma
database_cross_reference: SNOMEDCT_US_2020_03_01:12302002
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0279622
has_exact_synonym: small cell Osteosarcoma
in_subset: NCIthesaurus
imported from: doid.owl

conventional central osteosarcoma
type: Class
subclass of: bone osteosarcoma
id: DOID:3378
has_exact_synonym: Medullary Osteosarcoma
has_exact_synonym: Medullary osteosarcoma
has_exact_synonym: conventional Osteosarcoma
has_obo_namespace: disease_ontology
imported from: doid.owl

cranial nerve neoplasm
type: Class
subclass of: central nervous system cancer
subclass of: cranial nerve disease
database_cross_reference: NCI:C2963
database_cross_reference: UMLS_CUI:C0010267
definition: A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.
database_cross_reference: SNOMEDCT_US_2020_03_01:126966009
has_obo_namespace: disease_ontology
id: DOID:338
database_cross_reference: MESH:D003390
has_exact_synonym: neoplasm of cranial nerve
in_subset: NCIthesaurus
imported from: doid.owl

liposarcoma
type: Class
subclass of: lipomatous cancer
database_cross_reference: MESH:D008080
database_cross_reference: GARD:6913
id: DOID:3382
definition: A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities.
database_cross_reference: NCI:C3194
database_cross_reference: UMLS_CUI:C0023827
database_cross_reference: SNOMEDCT_US_2020_03_01:254829001
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

bacterial vaginosis
type: Class
subclass of: bacterial infectious disease
subclass of: vaginitis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0085166
database_cross_reference: MESH:D016585
definition: A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.
id: DOID:3385
database_cross_reference: SNOMEDCT_US_2020_03_01:237092002
database_cross_reference: NCI:C116973
in_subset: NCIthesaurus
imported from: doid.owl

periodontal disease
type: Class
subclass of: mouth disease
database_cross_reference: SNOMEDCT_US_2020_03_01:196354003
database_cross_reference: NCI:C63743
database_cross_reference: UMLS_CUI:C0031090
id: DOID:3388
definition: A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.
database_cross_reference: MESH:D010510
has_exact_synonym: Periodontal disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K05.6
has_exact_synonym: disease of supporting structures of teeth
has_exact_synonym: periodontium disorder
in_subset: NCIthesaurus
imported from: doid.owl

Papillon-Lefevre disease
type: Class
subclass of: autosomal recessive disease
subclass of: tooth disease
subclass of: ectodermal dysplasia
database_cross_reference: OMIM:245000
id: DOID:3389
database_cross_reference: UMLS_CUI:C0030360
database_cross_reference: SNOMEDCT_US_2020_03_01:40158001
database_cross_reference: GARD:3100
database_cross_reference: ORDO:678
database_cross_reference: NCI:C84992
has_obo_namespace: disease_ontology
definition: An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D010214
has_exact_synonym: Papillon Lefevre syndrome
has_exact_synonym: Papillon-Lefvre syndrome
in_subset: NCIthesaurus
imported from: doid.owl

palmoplantar keratosis
type: Class
subclass of: keratosis
database_cross_reference: GARD:8167
id: DOID:3390
database_cross_reference: SNOMEDCT_US_2020_03_01:28596004
database_cross_reference: UMLS_CUI:C0022596
has_obo_namespace: disease_ontology
has_exact_synonym: palmo-plantar keratodermas
definition: A keratosis characterized by abnormal thickening of the palms and the soles.
database_cross_reference: ICD10CM:L85.2
has_exact_synonym: Palmoplantar Keratoderma
has_exact_synonym: Keratosis palmaris et plantaris @fr
in_subset: NCIthesaurus
imported from: doid.owl

coronary artery disease
type: Class
subclass of: artery disease
database_cross_reference: OMIM:611139
has_exact_synonym: Coronary disease
database_cross_reference: ICD9CM:414.9
database_cross_reference: ICD9CM:410-414.99
database_cross_reference: SNOMEDCT_US_2020_03_01:233822007
definition: An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
database_cross_reference: ICD9CM:414.0
has_alternative_id: DOID:10506
database_cross_reference: OMIM:608316
database_cross_reference: SNOMEDCT_US_2020_03_01:53741008
database_cross_reference: OMIM:610947
database_cross_reference: OMIM:608318
database_cross_reference: SNOMEDCT_US_2020_03_01:41702007
database_cross_reference: OMIM:300464
has_alternative_id: DOID:3363
database_cross_reference: OMIM:614293
database_cross_reference: UMLS_CUI:C0010068
database_cross_reference: ICD10CM:I25.1
has_exact_synonym: CHD
comment: Xref MGI.
database_cross_reference: OMIM:612030
database_cross_reference: NCI:C50625
database_cross_reference: NCI:C35505
database_cross_reference: UMLS_CUI:C0264694
database_cross_reference: MESH:D017202
database_cross_reference: OMIM:608320
database_cross_reference: ICD10CM:I25
database_cross_reference: EFO:0001645
database_cross_reference: OMIM:607339
has_alternative_id: DOID:3394
has_alternative_id: DOID:9420
database_cross_reference: MESH:D003324
database_cross_reference: UMLS_CUI:C0010054
database_cross_reference: MESH:D003327
id: DOID:3393
database_cross_reference: ICD10CM:I25.10
has_exact_synonym: coronary heart disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:194852007
database_cross_reference: UMLS_CUI:C0151744
database_cross_reference: ICD10CM:I20-I25
has_exact_synonym: coronary arteriosclerosis
in_subset: NCIthesaurus
imported from: doid.owl

inappropriate ADH syndrome
type: Class
subclass of: pituitary gland disease
database_cross_reference: MESH:D007177
database_cross_reference: UMLS_CUI:C0021141
has_obo_namespace: disease_ontology
id: DOID:3401
database_cross_reference: ICD10CM:E22.2
database_cross_reference: SNOMEDCT_US_2020_03_01:55004003
database_cross_reference: NCI:C3988
has_exact_synonym: syndrome of Inappropriate Antidiuretic Hormone Secretion
has_exact_synonym: syndrome of inappropriate secretion of ADH
has_exact_synonym: syndrome of inappropriate secretion of antidiuretic hormone
has_exact_synonym: syndrome of inappropriate vasopressin secretion
in_subset: NCIthesaurus
imported from: doid.owl

histiocytosis
type: Class
subclass of: lymphatic system disease
database_cross_reference: MESH:D015614
definition: A lymphatic system disease that is characterized by an excessive number of histiocytes.
database_cross_reference: NCI:C3106
has_alternative_id: DOID:3344
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:60657004
database_cross_reference: UMLS_CUI:C0019618
id: DOID:3405
has_exact_synonym: Hand Schuller Christian disease
has_exact_synonym: chronic Histiocytosis X
in_subset: NCIthesaurus
imported from: doid.owl

carotid artery disease
type: Class
subclass of: artery disease
subclass of: cerebrovascular disease
id: DOID:3407
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84476
database_cross_reference: UMLS_CUI:C0007273
database_cross_reference: SNOMEDCT_US_2020_03_01:371160000
database_cross_reference: MESH:D002340
has_exact_synonym: disorder of carotid artery
in_subset: NCIthesaurus
imported from: doid.owl

peripheral vascular disease
type: Class
subclass of: vascular disease
has_alternative_id: DOID:2868
id: DOID:341
database_cross_reference: SNOMEDCT_US_2020_03_01:195624006
definition: A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain.
database_cross_reference: SNOMEDCT_US_2020_03_01:2929001
database_cross_reference: MESH:D001157
database_cross_reference: UMLS_CUI:C0003838
database_cross_reference: UMLS_CUI:C0031115
has_exact_synonym: arterial occlusive disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:443.81
imported from: doid.owl

alpha-mannosidosis
type: Class
subclass of: lysosomal storage disease
database_cross_reference: NCI:C84548
database_cross_reference: GARD:6968
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:65524005
definition: A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.
has_exact_synonym: Alpha-D-mannosidosis
id: DOID:3413
database_cross_reference: UMLS_CUI:C0024748
database_cross_reference: MESH:D008363
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:248500
has_exact_synonym: alpha-mannosidase deficiency
has_exact_synonym: deficiency of alpha-mannosidase
in_subset: NCIthesaurus
imported from: doid.owl

glossopharyngeal nerve disease
type: Class
subclass of: cranial nerve disease
database_cross_reference: ICD9CM:352
id: DOID:3418
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G52
database_cross_reference: UMLS_CUI:C0154730
definition: A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla.
database_cross_reference: SNOMEDCT_US_2020_03_01:193098000
has_exact_synonym: ninth cranial nerve disease
imported from: doid.owl

optic nerve neoplasm
type: Class
subclass of: optic nerve disease
subclass of: cranial nerve neoplasm
id: DOID:3419
database_cross_reference: NCI:C4801
database_cross_reference: MESH:D019574
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0524802
database_cross_reference: SNOMEDCT_US_2020_03_01:126968005
has_exact_synonym: Tumour of optic nerve
has_exact_synonym: neoplasm of optic nerve
has_exact_synonym: tumor of Second Cranial nerve
in_subset: NCIthesaurus
imported from: doid.owl

subclavian artery aneurysm
type: Class
subclass of: artery disease
database_cross_reference: ICD9CM:442.82
database_cross_reference: SNOMEDCT_US_2020_03_01:40136003
id: DOID:342
database_cross_reference: UMLS_CUI:C0155746
has_obo_namespace: disease_ontology
imported from: doid.owl

vestibular disease
type: Class
subclass of: inner ear disease
database_cross_reference: ICD10CM:H81.9
id: DOID:3426
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015837
database_cross_reference: SNOMEDCT_US_2020_03_01:20425006
database_cross_reference: UMLS_CUI:C0042594
has_exact_synonym: Vertigo, vestibular disorder
imported from: doid.owl

inclusion body myositis
type: Class
subclass of: myositis
database_cross_reference: SNOMEDCT_US_2020_03_01:72315009
database_cross_reference: ICD10CM:G72.41
database_cross_reference: GARD:3896
database_cross_reference: NCI:C84786
id: DOID:3429
database_cross_reference: ORDO:611
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018979
database_cross_reference: ICD9CM:359.71
database_cross_reference: OMIM:147421
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0238190
definition: A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

laryngitis
type: Class
subclass of: laryngeal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:45913009
database_cross_reference: UMLS_CUI:C0023067
definition: A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption.
database_cross_reference: NCI:C26811
database_cross_reference: MESH:D007827
id: DOID:3437
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

mammary Paget's disease
type: Class
subclass of: breast adenocarcinoma
has_obo_namespace: disease_ontology
definition: A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus.
database_cross_reference: NCI:C7073
id: DOID:3443
has_exact_synonym: Paget cell neoplasm
has_exact_synonym: Paget's disease
has_exact_synonym: Paget's disease of the breast
database_cross_reference: UMLS_CUI:C1368019
has_exact_synonym: mammary Paget disease
in_subset: NCIthesaurus
imported from: doid.owl

anal Paget's disease
type: Class
subclass of: anus adenocarcinoma
id: DOID:3446
database_cross_reference: UMLS_CUI:C1332274
database_cross_reference: NCI:C5598
has_obo_namespace: disease_ontology
has_exact_synonym: Paget's disease of anus
has_related_synonym: Paget's disease of the anus
has_exact_synonym: anal Paget disease
in_subset: NCIthesaurus
imported from: doid.owl

anus adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: anal carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:423607006
id: DOID:3447
database_cross_reference: NCI:C5600
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1332257
definition: An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
has_exact_synonym: adenocarcinoma of anus
has_related_synonym: adenocarcinoma of the anus
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

penis carcinoma
type: Class
subclass of: penile cancer
subclass of: carcinoma
database_cross_reference: NCI:C9061
has_exact_synonym: Penile carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:372106005
definition: A penile cancer that is located_in the skin or tissues of the penis.
has_obo_namespace: disease_ontology
id: DOID:3449
database_cross_reference: UMLS_CUI:C0853105
has_exact_synonym: carcinoma of penis
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

uterine disease
type: Class
subclass of: female reproductive system disease
database_cross_reference: ICD10CM:N85.9
database_cross_reference: ICD9CM:621.9
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26907
database_cross_reference: UMLS_CUI:C0042131
definition: A female reproductive system disease that is located_in the uterus.
database_cross_reference: MESH:D014591
id: DOID:345
database_cross_reference: SNOMEDCT_US_2020_03_01:237068005
in_subset: NCIthesaurus
imported from: doid.owl

skin carcinoma
type: Class
subclass of: carcinoma
subclass of: skin cancer
database_cross_reference: UMLS_CUI:C0699893
id: DOID:3451
has_obo_namespace: disease_ontology
definition: A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
database_cross_reference: NCI:C4914
has_exact_synonym: carcinoma of skin
in_subset: NCIthesaurus
imported from: doid.owl

brain infarction
type: Class
subclass of: cerebrovascular disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020520
definition: A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.
database_cross_reference: UMLS_CUI:C0751955
id: DOID:3454
imported from: doid.owl

invasive lobular carcinoma
type: Class
subclass of: breast lobular carcinoma
database_cross_reference: NCI:C3771
id: DOID:3457
database_cross_reference: UMLS_CUI:C0206692
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018275
database_cross_reference: SNOMEDCT_US_2020_03_01:89740008
definition: A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.
has_exact_synonym: Lobular carcinoma
has_exact_synonym: Lobular carcinoma of breast
has_exact_synonym: Lobular carcinoma of the breast
in_subset: NCIthesaurus
imported from: doid.owl

breast adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: breast carcinoma
definition: A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
database_cross_reference: NCI:C5214
id: DOID:3458
has_obo_namespace: disease_ontology
has_exact_synonym: Mammary adenocarcinoma
database_cross_reference: UMLS_CUI:C0858252
has_related_synonym: adenocarcinoma of breast
in_subset: NCIthesaurus
imported from: doid.owl

breast carcinoma
type: Class
subclass of: breast cancer
database_cross_reference: EFO:0000305
definition: A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
database_cross_reference: UMLS_CUI:C0678222
database_cross_reference: SNOMEDCT_US_2020_03_01:154513000
database_cross_reference: MESH:D001943
has_obo_namespace: disease_ontology
id: DOID:3459
has_exact_synonym: Mammary carcinoma
database_cross_reference: NCI:C4872
has_exact_synonym: carcinoma of breast
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

breast disease
type: Class
subclass of: thoracic disease
database_cross_reference: SNOMEDCT_US_2020_03_01:79604008
database_cross_reference: MESH:D001941
id: DOID:3463
definition: A thoracic disease that is located_in the breast.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26709
database_cross_reference: ICD9CM:610-612.99
database_cross_reference: ICD10CM:N64.9
database_cross_reference: UMLS_CUI:C0006145
in_subset: NCIthesaurus
imported from: doid.owl

uveal cancer
type: Class
subclass of: ocular cancer
subclass of: uveal disease
definition: An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes.
database_cross_reference: NCI:C3436
id: DOID:3479
database_cross_reference: NCI:C6105
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1334629
has_alternative_id: DOID:12754
database_cross_reference: UMLS_CUI:C0042162
database_cross_reference: MESH:D014604
has_exact_synonym: Uveal tumor
has_exact_synonym: malignant Uveal tumor
has_exact_synonym: malignant uvea neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

blepharochalasis
type: Class
subclass of: eyelid disease
database_cross_reference: SNOMEDCT_US_2020_03_01:193944001
definition: An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.
database_cross_reference: UMLS_CUI:C0005742
has_obo_namespace: disease_ontology
id: DOID:348
database_cross_reference: ICD9CM:374.34
database_cross_reference: ICD10CM:H02.3
imported from: doid.owl

uveal disease
type: Class
subclass of: eye disease
definition: An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
id: DOID:3480
database_cross_reference: GARD:8192
database_cross_reference: UMLS_CUI:C0042161
database_cross_reference: NCI:C26908
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:95678007
database_cross_reference: MESH:D014603
in_subset: NCIthesaurus
imported from: doid.owl

plague
type: Class
subclass of: primary bacterial infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0032064
database_cross_reference: ICD9CM:020
database_cross_reference: SNOMEDCT_US_2020_03_01:58750007
definition: A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food.
database_cross_reference: NCI:C85015
database_cross_reference: MESH:D010930
database_cross_reference: ICD10CM:A20
id: DOID:3482
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

systemic mastocytosis
type: Class
subclass of: mastocytosis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:123310005
id: DOID:349
database_cross_reference: NCI:C9235
database_cross_reference: GARD:8616
has_exact_synonym: SMCD - systemic mast cell disease
database_cross_reference: UMLS_CUI:C0221013
database_cross_reference: MESH:D034721
database_cross_reference: ICD10CM:D47.02
has_exact_synonym: systemic tissue mast cell disease
in_subset: NCIthesaurus
imported from: doid.owl

Noonan syndrome
type: Class
subclass of: monogenic disease
subclass of: RASopathy
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:88327006
definition: A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
id: DOID:3490
database_cross_reference: UMLS_CUI:C0028326
database_cross_reference: OMIM:PS163950
database_cross_reference: GARD:10955
database_cross_reference: MESH:D009634
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q87.19
database_cross_reference: NCI:C34854
database_cross_reference: ORDO:648
has_exact_synonym: Turner's phenotype, karyotype normal
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Turner syndrome
type: Class
subclass of: gonadal dysgenesis
definition: A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.
id: DOID:3491
database_cross_reference: UMLS_CUI:C1527168
has_obo_namespace: disease_ontology
has_alternative_id: DOID:5448
database_cross_reference: NCI:C26900
database_cross_reference: MESH:D014424
comment: No OMIM mapping, confirmed by DO. [LS].
database_cross_reference: GARD:2540
database_cross_reference: NCI:C34434
database_cross_reference: GARD:7831
database_cross_reference: SNOMEDCT_US_2020_03_01:38804009
has_exact_synonym: Bonnevie-Ullrich syndrome
has_exact_synonym: Gonadal dysgenesis - Turner
database_cross_reference: UMLS_CUI:C0041408
database_cross_reference: ICD10CM:Q96
has_exact_synonym: Karyotype 45, X
has_exact_synonym: Monosomy X
has_exact_synonym: XO syndrome
has_exact_synonym: monosomy X syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

mixed connective tissue disease
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: collagen disease
id: DOID:3492
definition: A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
has_exact_synonym: Connective tissue disease overlap syndrome
database_cross_reference: NCI:C84892
database_cross_reference: SNOMEDCT_US_2020_03_01:33110008
database_cross_reference: ICD10CM:M35.1
database_cross_reference: UMLS_CUI:C0026272
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7051
database_cross_reference: MESH:D008947
has_exact_synonym: mixed collagen vascular disease
in_subset: NCIthesaurus
imported from: doid.owl

signet ring cell adenocarcinoma
type: Class
subclass of: adenocarcinoma
database_cross_reference: NCI:C3774
definition: An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance.
database_cross_reference: MESH:D018279
has_exact_synonym: Signet ring carcinoma
database_cross_reference: UMLS_CUI:C0206696
has_obo_namespace: disease_ontology
id: DOID:3493
database_cross_reference: SNOMEDCT_US_2020_03_01:189701002
has_exact_synonym: Signet Ring cell adenocarcinoma
has_exact_synonym: Signet ring cell carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

pancreatic ductal adenocarcinoma
type: Class
subclass of: pancreatic adenocarcinoma
database_cross_reference: UMLS_CUI:C1335302
database_cross_reference: NCI:C9120
database_cross_reference: SNOMEDCT_US_2020_03_01:792907004
definition: A pancreatic adenocarcinoma that derives_from pancreatic duct cells.
id: DOID:3498
has_obo_namespace: disease_ontology
has_exact_synonym: ductal adenocarcinoma of the pancreas
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

mastocytosis
type: Class
subclass of: leukocyte disease
database_cross_reference: MESH:D008415
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: SNOMEDCT_US_2020_03_01:78745000
database_cross_reference: OMIM:154800
has_obo_namespace: disease_ontology
id: DOID:350
database_cross_reference: ICD10CM:D47.09
database_cross_reference: UMLS_CUI:C0024899
database_cross_reference: NCI:C84269
database_cross_reference: GARD:6987
has_exact_synonym: mast cell hyperplasia
in_subset: NCIthesaurus
imported from: doid.owl

dermatofibrosarcoma protuberans
type: Class
subclass of: fibrosarcoma
database_cross_reference: GARD:9569
database_cross_reference: SNOMEDCT_US_2020_03_01:302844005
database_cross_reference: OMIM:607907
has_obo_namespace: disease_ontology
definition: A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.
id: DOID:3507
database_cross_reference: MESH:D018223
database_cross_reference: UMLS_CUI:C0206647
comment: MESH:C538219 added from NeuroDevNet [WAK].
in_subset: DO cancer slim
imported from: doid.owl

neurofibrosarcoma
type: Class
subclass of: neurofibroma
database_cross_reference: SNOMEDCT_US_2020_03_01:19897006
database_cross_reference: MESH:D018319
id: DOID:3512
has_exact_synonym: Neurosarcoma
database_cross_reference: UMLS_CUI:C0206729
has_obo_namespace: disease_ontology
database_cross_reference: GARD:8211
imported from: doid.owl

pediatric fibrosarcoma
type: Class
subclass of: fibrosarcoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C8088
database_cross_reference: UMLS_CUI:C0279981
id: DOID:3520
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

middle cerebral artery infarction
type: Class
subclass of: cerebral infarction
database_cross_reference: UMLS_CUI:C0740392
has_obo_namespace: disease_ontology
id: DOID:3525
database_cross_reference: MESH:D020244
imported from: doid.owl

cerebral infarction
type: Class
subclass of: brain infarction
database_cross_reference: MESH:D002544
database_cross_reference: ICD10CM:I63
database_cross_reference: SNOMEDCT_US_2020_03_01:195188006
has_obo_namespace: disease_ontology
id: DOID:3526
definition: A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.
has_exact_synonym: CVA - Cerebral infarction
has_exact_synonym: Cerebral infarct
database_cross_reference: NCI:C50486
database_cross_reference: UMLS_CUI:C0007785
has_exact_synonym: Cerebral infarction
database_cross_reference: OMIM:601367
in_subset: NCIthesaurus
imported from: doid.owl

cerebral arterial disease
type: Class
subclass of: artery disease
subclass of: intracranial arterial disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002539
id: DOID:3527
database_cross_reference: UMLS_CUI:C0007774
imported from: doid.owl

central core myopathy
type: Class
subclass of: congenital structural myopathy
database_cross_reference: NCI:C83010
database_cross_reference: SNOMEDCT_US_2020_03_01:43152001
database_cross_reference: UMLS_CUI:C0751951
has_obo_namespace: disease_ontology
id: DOID:3529
database_cross_reference: MESH:D020512
database_cross_reference: OMIM:117000
database_cross_reference: ICD10CM:G71.2
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: central core disease
in_subset: NCIthesaurus
imported from: doid.owl

chronic wasting disease
type: Class
subclass of: prion disease
database_cross_reference: MESH:D034081
id: DOID:3530
database_cross_reference: UMLS_CUI:C1135993
has_obo_namespace: disease_ontology
imported from: doid.owl

Unverricht-Lundborg syndrome
type: Class
subclass of: progressive myoclonus epilepsy
database_cross_reference: SNOMEDCT_US_2020_03_01:192847001
has_obo_namespace: disease_ontology
definition: A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.
database_cross_reference: UMLS_CUI:C0751785
database_cross_reference: MESH:D020194
comment: OMIM mapping confirmed by DO. [LS].
id: DOID:3535
database_cross_reference: GARD:3876
has_exact_synonym: Unverricht - Lundborg disease
has_exact_synonym: Unverricht's disease
has_exact_synonym: Unverricht-Lundborg disease
imported from: doid.owl

choroid plexus cancer
type: Class
subclass of: cerebral ventricle cancer
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D016545
definition: A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain.
database_cross_reference: UMLS_CUI:C0085138
database_cross_reference: SNOMEDCT_US_2020_03_01:254942002
id: DOID:3540
database_cross_reference: NCI:C3473
has_related_synonym: choroid plexus neoplasm
has_exact_synonym: tumor of choroid plexus
has_exact_synonym: tumor of the Choroid Plexus
in_subset: NCIthesaurus
imported from: doid.owl

cerebral ventricle cancer
type: Class
subclass of: cerebrum cancer
database_cross_reference: NCI:C2937
has_alternative_id: DOID:10856
database_cross_reference: SNOMEDCT_US_2020_03_01:126958000
database_cross_reference: UMLS_CUI:C0007798
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002551
definition: A cerebrum cancer that is located_in the cerebral ventricles.
id: DOID:3541
database_cross_reference: SNOMEDCT_US_2020_03_01:363471001
database_cross_reference: ICD10CM:C71.5
database_cross_reference: GARD:6025
has_exact_synonym: Intraventricular tumor of brain
database_cross_reference: UMLS_CUI:C0346906
database_cross_reference: ICD9CM:191.5
has_exact_synonym: cerebral ventricle neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

mast-cell sarcoma
type: Class
subclass of: sarcoma
subclass of: mast cell neoplasm
database_cross_reference: NCI:C9348
database_cross_reference: UMLS_CUI:C0036221
database_cross_reference: ICD10CM:C96.22
database_cross_reference: SNOMEDCT_US_2020_03_01:118615008
definition: A sarcoma that has_material_basis in mast cells.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D012515
id: DOID:355
database_cross_reference: ICD9CM:202.6
in_subset: NCIthesaurus
imported from: doid.owl

superior mesenteric artery syndrome
type: Class
subclass of: duodenal obstruction
id: DOID:3557
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C85175
database_cross_reference: GARD:7712
database_cross_reference: UMLS_CUI:C0038828
database_cross_reference: SNOMEDCT_US_2020_03_01:24988007
database_cross_reference: MESH:D013478
has_exact_synonym: Superior mesenteric artery syndrome
in_subset: NCIthesaurus
imported from: doid.owl

duodenal obstruction
type: Class
subclass of: duodenum disease
database_cross_reference: MESH:D004380
database_cross_reference: ICD10CM:K31.5
database_cross_reference: UMLS_CUI:C0013292
id: DOID:3558
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C79548
database_cross_reference: SNOMEDCT_US_2020_03_01:95532008
in_subset: NCIthesaurus
imported from: doid.owl

pseudomyxoma peritonei
type: Class
subclass of: appendix cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:307601000
definition: An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.
database_cross_reference: NCI:C3345
database_cross_reference: GARD:7488
database_cross_reference: UMLS_CUI:C0033822
database_cross_reference: MESH:D011553
id: DOID:3559
has_exact_synonym: Pseudomyxoma peritonei
has_obo_namespace: disease_ontology
has_exact_synonym: mucinous Ascites
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

meningioma
type: Class
subclass of: central nervous system cancer
database_cross_reference: MESH:D008577
database_cross_reference: NCI:C4656
database_cross_reference: NCI:C3229
database_cross_reference: SNOMEDCT_US_2020_03_01:302820008
definition: A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
database_cross_reference: UMLS_CUI:C0025286
has_alternative_id: DOID:1137
database_cross_reference: UMLS_CUI:C0025284
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7048
database_cross_reference: NCI:C6971
database_cross_reference: MESH:D008579
database_cross_reference: ICDO:M9530/3
has_alternative_id: DOID:3554
database_cross_reference: GARD:7015
database_cross_reference: NCI:C3230
database_cross_reference: ICD10CM:D32.9
database_cross_reference: UMLS_CUI:C1334698
database_cross_reference: UMLS_CUI:C1336537
database_cross_reference: SNOMEDCT_US_2020_03_01:269643009
has_alternative_id: DOID:3567
has_alternative_id: DOID:4750
id: DOID:3565
database_cross_reference: UMLS_CUI:C0349604
database_cross_reference: SNOMEDCT_US_2020_03_01:127579001
has_exact_synonym: intracranial meningioma
has_exact_synonym: meningeal neoplasm
has_exact_synonym: meningothelial cell tumor
has_exact_synonym: neoplasm of the meninges
has_exact_synonym: primary Meningeal tumor
has_exact_synonym: supratentorial meningioma
in_subset: DO cancer slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

liver cancer
type: Class
subclass of: hepatobiliary system cancer
subclass of: endocrine gland cancer
subclass of: liver disease
database_cross_reference: ICD10CM:C22.0
has_alternative_id: DOID:915
database_cross_reference: SNOMEDCT_US_2020_03_01:126851005
database_cross_reference: UMLS_CUI:C0345904
definition: A hepatobiliary system cancer that is located_in the liver.
has_exact_synonym: Ca liver - primary
has_alternative_id: DOID:919
database_cross_reference: NCI:C7692
database_cross_reference: UMLS_CUI:C0024620
has_alternative_id: DOID:269
database_cross_reference: ICD9CM:155.0
database_cross_reference: MESH:D008113
database_cross_reference: NCI:C34803
database_cross_reference: UMLS_CUI:C0023903
database_cross_reference: UMLS_CUI:C0854795
has_alternative_id: DOID:12300
database_cross_reference: SNOMEDCT_US_2020_03_01:93870000
has_exact_synonym: ca liver - primary
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C22.9
has_alternative_id: DOID:7330
id: DOID:3571
database_cross_reference: ICD9CM:155.2
has_exact_synonym: Resectable malignant neoplasm of Liver
database_cross_reference: SNOMEDCT_US_2020_03_01:187771009
has_exact_synonym: hepatic cancer
has_exact_synonym: hepatic neoplasm
has_exact_synonym: malignant hepato-biliary neoplasm
has_exact_synonym: malignant neoplasm of liver
has_exact_synonym: malignant neoplasm of liver, not specified as primary or secondary
has_exact_synonym: malignant neoplasm of liver, primary
has_exact_synonym: malignant tumor of liver
has_exact_synonym: neoplasm of liver
has_exact_synonym: non-resectable primary hepatic malignant neoplasm
has_exact_synonym: primary liver cancer
has_exact_synonym: primary malignant neoplasm of Liver
has_exact_synonym: primary malignant neoplasm of liver
has_exact_synonym: resectable malignant neoplasm of the liver
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

intracranial sinus thrombosis
type: Class
subclass of: intracranial thrombosis
database_cross_reference: MESH:D012851
id: DOID:3572
database_cross_reference: UMLS_CUI:C0037198
has_obo_namespace: disease_ontology
imported from: doid.owl

lateral sinus thrombosis
type: Class
subclass of: intracranial sinus thrombosis
database_cross_reference: SNOMEDCT_US_2020_03_01:21258007
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020227
has_exact_synonym: Thrombosis of lateral venous sinus
has_exact_synonym: Thrombosis transverse sinus
database_cross_reference: UMLS_CUI:C0270639
id: DOID:3574
imported from: doid.owl

sagittal sinus thrombosis
type: Class
subclass of: intracranial sinus thrombosis
database_cross_reference: UMLS_CUI:C0338575
database_cross_reference: SNOMEDCT_US_2020_03_01:70607008
has_obo_namespace: disease_ontology
id: DOID:3576
database_cross_reference: MESH:D020225
has_exact_synonym: Thrombosis of superior longitudinal sinus
has_exact_synonym: Thrombosis of superior sagittal sinus
imported from: doid.owl

Sertoli cell tumor
type: Class
subclass of: sex cord-gonadal stromal tumor
definition: A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells.
database_cross_reference: UMLS_CUI:C0036769
database_cross_reference: NCI:C39976
has_alternative_id: DOID:0050617
database_cross_reference: MESH:D012707
database_cross_reference: SNOMEDCT_US_2020_03_01:89089007
id: DOID:3577
has_obo_namespace: disease_ontology
has_exact_synonym: tubular androblastoma
in_subset: NCIthesaurus
imported from: doid.owl

testicular gonadoblastoma
type: Class
subclass of: male reproductive organ benign neoplasm
subclass of: testicular disease
subclass of: gonadoblastoma
database_cross_reference: NCI:C39911
id: DOID:3579
database_cross_reference: UMLS_CUI:C1515283
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

gestational trophoblastic neoplasm
type: Class
subclass of: endometrial cancer
subclass of: trophoblastic neoplasm
database_cross_reference: ICD9CM:630
database_cross_reference: NCI:C3110
database_cross_reference: UMLS_CUI:C0278796
database_cross_reference: SNOMEDCT_US_2020_03_01:417475006
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D031901
database_cross_reference: MESH:D006828
database_cross_reference: SNOMEDCT_US_2020_03_01:156085008
has_alternative_id: DOID:14071
database_cross_reference: NCI:C7887
database_cross_reference: UMLS_CUI:C1135868
has_alternative_id: DOID:3598
database_cross_reference: ICD10CM:O01
id: DOID:3590
database_cross_reference: OMIM:231090
database_cross_reference: UMLS_CUI:C0020217
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4699
has_exact_synonym: gestational trophoblastic neoplasia
has_exact_synonym: hydatidiform mole
has_exact_synonym: molar pregnancy
in_subset: NCIthesaurus
imported from: doid.owl

epithelioid trophoblastic tumor
type: Class
subclass of: lung cancer
subclass of: trophoblastic neoplasm
subclass of: cervical cancer
database_cross_reference: NCI:C6900
database_cross_reference: SNOMEDCT_US_2020_03_01:128767001
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1266159
id: DOID:3593
in_subset: NCIthesaurus
imported from: doid.owl

choriocarcinoma
type: Class
subclass of: placenta cancer
id: DOID:3594
database_cross_reference: SNOMEDCT_US_2020_03_01:189444004
database_cross_reference: ICD10CM:C58
database_cross_reference: GARD:6059
has_exact_synonym: Chorioepithelioma
database_cross_reference: UMLS_CUI:C0008497
database_cross_reference: NCI:C2948
definition: A placenta cancer that has_material_basis_in trophoblastic cells.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002822
in_subset: NCIthesaurus
imported from: doid.owl

placental site trophoblastic tumor
type: Class
subclass of: choriocarcinoma
definition: A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3757
database_cross_reference: MESH:D018245
id: DOID:3596
has_exact_synonym: Placental site trophoblastic tumor
database_cross_reference: SNOMEDCT_US_2020_03_01:75320001
database_cross_reference: UMLS_CUI:C0206666
has_exact_synonym: Placental site trophoblastic tumour
has_exact_synonym: Placental-Site Gestational Trophoblastic neoplasm
has_exact_synonym: placental site trophoblastic tumour
in_subset: NCIthesaurus
imported from: doid.owl

toxic encephalopathy
type: Class
subclass of: nervous system disease
id: DOID:3602
database_cross_reference: UMLS_CUI:C0235032
database_cross_reference: SNOMEDCT_US_2020_03_01:19466003
has_obo_namespace: disease_ontology
definition: A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.
database_cross_reference: NCI:C27961
database_cross_reference: MESH:D020258
has_exact_synonym: neurotoxicity
has_exact_synonym: neurotoxicity syndrome
in_subset: NCIthesaurus
imported from: doid.owl

mucinous cystadenocarcinoma
type: Class
subclass of: cystadenocarcinoma
id: DOID:3603
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018282
database_cross_reference: UMLS_CUI:C0206699
definition: A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
database_cross_reference: NCI:C3776
database_cross_reference: SNOMEDCT_US_2020_03_01:79143006
has_exact_synonym: Pseudomucinous cystadenocarcinoma
in_subset: NCIthesaurus
imported from: doid.owl

ovarian mucinous cystadenocarcinoma
type: Class
subclass of: ovarian cystadenocarcinoma
definition: An ovarian cystadenocarcinoma that is characterized by the presence of mucin.
database_cross_reference: NCI:C4026
has_obo_namespace: disease_ontology
id: DOID:3604
database_cross_reference: UMLS_CUI:C0279665
has_exact_synonym: Ovarian mucinous cystadenocarcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:254851009
has_exact_synonym: mucinous cystadenocarcinoma of ovary
in_subset: NCIthesaurus
imported from: doid.owl

ovarian cystadenocarcinoma
type: Class
subclass of: ovary adenocarcinoma
definition: An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces.
database_cross_reference: UMLS_CUI:C1096638
id: DOID:3605
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5228
database_cross_reference: SNOMEDCT_US_2020_03_01:314191009
has_exact_synonym: cystadenocarcinoma of ovary
has_exact_synonym: cystadenocarcinoma of the Ovary
in_subset: NCIthesaurus
imported from: doid.owl

ovarian mucinous adenocarcinoma
type: Class
subclass of: mucinous adenocarcinoma
subclass of: ovary adenocarcinoma
database_cross_reference: UMLS_CUI:C1335167
database_cross_reference: NCI:C5243
definition: An ovary adenocarcinoma that is characterized by the presence of mucin.
id: DOID:3606
has_obo_namespace: disease_ontology
has_exact_synonym: mucinous carcinoma of Ovary
in_subset: NCIthesaurus
imported from: doid.owl

appendix adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: appendix carcinoma
id: DOID:3608
database_cross_reference: NCI:C7718
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0238003
definition: An appendix carcinoma that derives_from epithelial cells of glandular origin.
has_exact_synonym: Appendiceal adenocarcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:413445002
in_subset: NCIthesaurus
imported from: doid.owl

cervix endometriosis
type: Class
subclass of: cervix disease
database_cross_reference: NCI:C27623
database_cross_reference: SNOMEDCT_US_2020_03_01:61640006
database_cross_reference: UMLS_CUI:C0269107
has_obo_namespace: disease_ontology
id: DOID:361
definition: A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix.
has_exact_synonym: Endometriosis of cervix
has_exact_synonym: cervical Endometriosis
in_subset: NCIthesaurus
imported from: doid.owl

retinitis
type: Class
subclass of: retinal disease
database_cross_reference: UMLS_CUI:C0035333
database_cross_reference: MESH:D012173
database_cross_reference: SNOMEDCT_US_2020_03_01:35426003
database_cross_reference: ICD10CM:H30.9
database_cross_reference: NCI:C115993
id: DOID:3612
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

Canavan disease
type: Class
subclass of: autosomal recessive disease
subclass of: leukodystrophy
id: DOID:3613
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0206307
database_cross_reference: SNOMEDCT_US_2020_03_01:80544005
database_cross_reference: OMIM:271900
has_exact_synonym: CANAVAN-VAN BOGAERT-BERTRAND DISEASE
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D017825
database_cross_reference: GARD:5984
database_cross_reference: NCI:C84611
has_exact_synonym: Spongy degeneration of central nervous system
in_subset: NCIthesaurus
imported from: doid.owl

Kallmann syndrome
type: Class
subclass of: hypogonadotropic hypogonadism
database_cross_reference: MESH:D017436
database_cross_reference: NCI:C75479
definition: A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
id: DOID:3614
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0162809
database_cross_reference: ORDO:478
database_cross_reference: SNOMEDCT_US_2020_03_01:190559001
database_cross_reference: GARD:10771
has_exact_synonym: Hypogonadism with anosmia
database_cross_reference: ICD10CM:E23.0
has_exact_synonym: Kallman syndrome
has_exact_synonym: Kallman's syndrome
has_exact_synonym: familial hypogonadism with anosmia
in_subset: NCIthesaurus
imported from: doid.owl

angiolipoma
type: Class
subclass of: lipoma
database_cross_reference: UMLS_CUI:C0206632
database_cross_reference: SNOMEDCT_US_2020_03_01:404057003
database_cross_reference: MESH:D018206
id: DOID:3616
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3733
definition: A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
in_subset: NCIthesaurus
imported from: doid.owl

central nervous system cancer
type: Class
subclass of: nervous system cancer
subclass of: central nervous system disease
database_cross_reference: NCI:C4627
database_cross_reference: EFO:0000326
has_obo_namespace: disease_ontology
id: DOID:3620
definition: A nervous system cancer that is located_in the central nervous system.
database_cross_reference: NCI:C9293
database_cross_reference: SNOMEDCT_US_2020_03_01:126951006
database_cross_reference: ICD10CM:C72.9
database_cross_reference: UMLS_CUI:C0085136
database_cross_reference: MESH:D016543
has_exact_synonym: CNS neoplasm
has_alternative_id: DOID:1318
database_cross_reference: UMLS_CUI:C0348374
has_alternative_id: DOID:0060093
database_cross_reference: SNOMEDCT_US_2020_03_01:93744007
has_exact_synonym: central nervous system tumor
has_exact_synonym: central nervous system tumors
has_exact_synonym: malignant neoplasm of central nervous system
has_exact_synonym: malignant tumor of CNS
has_exact_synonym: neoplasm of central nervous system
in_subset: NCIthesaurus
imported from: doid.owl

aortic aneurysm
type: Class
subclass of: aortic disease
database_cross_reference: NCI:C27046
database_cross_reference: NCI:C26697
has_alternative_id: DOID:7692
database_cross_reference: SNOMEDCT_US_2020_03_01:73067008
database_cross_reference: UMLS_CUI:C1305122
database_cross_reference: ICD9CM:441.1
database_cross_reference: ICD9CM:441.3
has_alternative_id: DOID:11138
id: DOID:3627
database_cross_reference: MESH:D001019
database_cross_reference: MESH:D001014
has_alternative_id: DOID:7703
database_cross_reference: NCI:C27299
database_cross_reference: ICD10CM:I71.3
database_cross_reference: ICD10CM:I71.1
database_cross_reference: ICD10CM:I71.8
database_cross_reference: UMLS_CUI:C0741160
has_alternative_id: DOID:7682
database_cross_reference: UMLS_CUI:C0003486
database_cross_reference: ICD10CM:I71.5
database_cross_reference: SNOMEDCT_US_2020_03_01:34365005
database_cross_reference: SNOMEDCT_US_2020_03_01:195265003
database_cross_reference: NCI:C27198
database_cross_reference: ICD9CM:441.6
definition: An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
database_cross_reference: ICD9CM:441.5
database_cross_reference: SNOMEDCT_US_2020_03_01:155419006
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:14336007
database_cross_reference: UMLS_CUI:C0265010
database_cross_reference: UMLS_CUI:C0265012
database_cross_reference: ICD10CM:I71.9
has_exact_synonym: ruptured aortic aneurysm
in_subset: NCIthesaurus
imported from: doid.owl

uterine cancer
type: Class
subclass of: female reproductive organ cancer
subclass of: uterine disease
definition: A female reproductive organ cancer that is located_in the uterus.
id: DOID:363
database_cross_reference: ICD10CM:C55
database_cross_reference: ICD9CM:179
database_cross_reference: NCI:C3552
database_cross_reference: NCI:C3435
has_exact_synonym: CA - cancer of uterus
database_cross_reference: SNOMEDCT_US_2020_03_01:371973000
database_cross_reference: UMLS_CUI:C0042138
database_cross_reference: MESH:D014594
database_cross_reference: SNOMEDCT_US_2020_03_01:126908007
has_alternative_id: DOID:4363
has_exact_synonym: Tumour of uterus
database_cross_reference: UMLS_CUI:C0153567
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of uterus
has_exact_synonym: malignant uterine tumor
has_exact_synonym: neoplasm of uterus
has_exact_synonym: uterine tumor
has_exact_synonym: uterus neoplasm
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

beta-mannosidosis
type: Class
subclass of: lysosomal storage disease
definition: A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
database_cross_reference: NCI:C84596
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:238047006
database_cross_reference: UMLS_CUI:C4048196
database_cross_reference: MESH:D044905
database_cross_reference: OMIM:248510
has_obo_namespace: disease_ontology
id: DOID:3633
has_exact_synonym: Beta-D-mannosidosis
has_exact_synonym: beta-mannosidase deficiency
has_exact_synonym: lysosomal beta-mannosidase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

congenital myasthenic syndrome
type: Class
subclass of: physical disorder
subclass of: neuromuscular junction disease
id: DOID:3635
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0751882
database_cross_reference: ORDO:590
database_cross_reference: OMIM:PS601462
database_cross_reference: GARD:11902
database_cross_reference: SNOMEDCT_US_2020_03_01:230672006
definition: A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
database_cross_reference: MESH:D020294
comment: Xref MGI.
database_cross_reference: NCI:C84647
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

central nervous system teratoma
type: Class
subclass of: sarcoma
subclass of: central nervous system germ cell tumor
definition: A teratoma that is located_in the central nervous system.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1332895
id: DOID:3640
database_cross_reference: NCI:C5441
has_exact_synonym: CNS teratoma
in_subset: NCIthesaurus
imported from: doid.owl

empty sella syndrome
type: Class
subclass of: pituitary gland disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0014008
has_exact_synonym: Empty sella syndrome
database_cross_reference: MESH:D004652
id: DOID:3642
database_cross_reference: NCI:C84686
database_cross_reference: GARD:6331
database_cross_reference: SNOMEDCT_US_2020_03_01:393569006
in_subset: NCIthesaurus
imported from: doid.owl

necrosis of pituitary
type: Class
subclass of: pituitary gland disease
id: DOID:3646
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0271558
database_cross_reference: SNOMEDCT_US_2020_03_01:59572000
database_cross_reference: NCI:C27066
has_exact_synonym: Pituitary necrosis
in_subset: NCIthesaurus
imported from: doid.owl

pyruvate decarboxylase deficiency
type: Class
subclass of: carbohydrate metabolic disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:46683007
database_cross_reference: NCI:C103968
database_cross_reference: ORDO:79243
database_cross_reference: OMIM:245348
database_cross_reference: OMIM:245349
database_cross_reference: OMIM:614111
id: DOID:3649
database_cross_reference: OMIM:312170
database_cross_reference: GARD:4620
database_cross_reference: GARD:7513
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:E74.4
database_cross_reference: OMIM:608782
definition: A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
database_cross_reference: MESH:D015325
database_cross_reference: UMLS_CUI:C0034345
has_exact_synonym: deficiency of pyruvic dehydrogenase
has_obo_namespace: disease_ontology
has_exact_synonym: pyruvate dehydrogenase complex deficiency disease
has_exact_synonym: pyruvate dehydrogenase deficiency
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

bladder disease
type: Class
subclass of: urinary system disease
definition: A urinary system disease that is located_in the bladder.
database_cross_reference: ICD9CM:596.9
database_cross_reference: MESH:D001745
database_cross_reference: UMLS_CUI:C0005686
id: DOID:365
database_cross_reference: ICD10CM:N32.9
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2900
database_cross_reference: SNOMEDCT_US_2020_03_01:42643001
has_exact_synonym: Urinary Bladder Disease
in_subset: NCIthesaurus
imported from: doid.owl

lactic acidosis
type: Class
subclass of: metabolic acidosis
definition: A metabolic acidosis characterized by buildup of lactate.
database_cross_reference: SNOMEDCT_US_2020_03_01:91273001
database_cross_reference: ICD10CM:E87.2
id: DOID:3650
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C98969
database_cross_reference: UMLS_CUI:C0001125
database_cross_reference: MESH:D000140
in_subset: NCIthesaurus
imported from: doid.owl

Leigh disease
type: Class
subclass of: mitochondrial metabolism disease
database_cross_reference: NCI:C84814
database_cross_reference: MESH:D007888
database_cross_reference: GARD:6877
database_cross_reference: ORDO:506
database_cross_reference: ICD10CM:G31.82
id: DOID:3652
database_cross_reference: UMLS_CUI:C0023264
database_cross_reference: OMIM:256000
database_cross_reference: SNOMEDCT_US_2020_03_01:29570005
has_obo_namespace: disease_ontology
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
has_exact_synonym: Infantile necrotizing encephalomyelopathy
has_exact_synonym: Leigh syndrome
has_exact_synonym: juvenile subacute necrotizing encephalomyelopathy
has_related_synonym: subacute necrotizing encephalomyelopathy
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

sialuria
type: Class
subclass of: lysosomal storage disease
database_cross_reference: UMLS_CUI:C0342853
database_cross_reference: MESH:D029461
database_cross_reference: NCI:C85067
id: DOID:3659
definition: A lysosomal storage disease characterized by increased sialic acid in the urine.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:238051008
comment: OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference: OMIM:269921
database_cross_reference: OMIM:604369
in_subset: NCIthesaurus
imported from: doid.owl

olfactory nerve neoplasm
type: Class
subclass of: cranial nerve malignant neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:126967000
database_cross_reference: NCI:C5121
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0346319
id: DOID:366
has_exact_synonym: neoplasm of olfactory nerve
has_exact_synonym: tumor of Olfactory nerve
in_subset: NCIthesaurus
imported from: doid.owl

mast cell neoplasm
type: Class
subclass of: cell type cancer
subclass of: hematologic cancer
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D47.09
id: DOID:3664
database_cross_reference: SNOMEDCT_US_2020_03_01:127581004
database_cross_reference: NCI:C9295
database_cross_reference: UMLS_CUI:C0334664
definition: A hematologic cancer that has_material_basis_in mast cells.
has_exact_synonym: Mast cell Proliferative disease
has_exact_synonym: mast cell tumor
has_exact_synonym: mastocytoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

intermittent claudication
type: Class
subclass of: arteriosclerosis
id: DOID:3669
database_cross_reference: ICD10CM:I73.9
has_exact_synonym: Charcot's syndrome
has_exact_synonym: Intermittent claudication
database_cross_reference: UMLS_CUI:C0021775
database_cross_reference: SNOMEDCT_US_2020_03_01:195312007
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007383
imported from: doid.owl

rhabdoid cancer
type: Class
subclass of: childhood kidney cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:83118000
database_cross_reference: NCI:C3808
database_cross_reference: GARD:7572
definition: A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.
database_cross_reference: UMLS_CUI:C0206743
database_cross_reference: MESH:D018335
id: DOID:3672
has_exact_synonym: Rhabdoid sarcoma
has_obo_namespace: disease_ontology
has_exact_synonym: malignant rhabdoid tumour
has_related_synonym: rhabdoid tumor
in_subset: NCIthesaurus
imported from: doid.owl

childhood kidney cancer
type: Class
subclass of: kidney cancer
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1333003
database_cross_reference: NCI:C6563
id: DOID:3675
has_exact_synonym: pediatric renal tumor
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

cerebrum cancer
type: Class
subclass of: supratentorial cancer
id: DOID:368
has_alternative_id: DOID:912
database_cross_reference: SNOMEDCT_US_2020_03_01:126953009
database_cross_reference: ICD9CM:191.8
definition: A supratentorial cancer that is located_in the cerebrum.
database_cross_reference: NCI:C4874
database_cross_reference: UMLS_CUI:C1263885
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:188300006
database_cross_reference: UMLS_CUI:C0153642
has_exact_synonym: cerebral cancer
has_exact_synonym: neoplasm of cerebrum
has_exact_synonym: tumor of Cerebrum
in_subset: NCIthesaurus
imported from: doid.owl

lung benign neoplasm
type: Class
subclass of: respiratory system benign neoplasm
subclass of: lung disease
database_cross_reference: SNOMEDCT_US_2020_03_01:126713003
database_cross_reference: UMLS_CUI:C0024121
database_cross_reference: MESH:D008175
database_cross_reference: NCI:C3200
id: DOID:3683
has_obo_namespace: disease_ontology
has_exact_synonym: tumor of the lung
in_subset: NCIthesaurus
imported from: doid.owl

MELAS syndrome
type: Class
subclass of: mitochondrial encephalomyopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:39925003
id: DOID:3687
database_cross_reference: MESH:D017241
has_exact_synonym: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E88.41
database_cross_reference: NCI:C84885
definition: A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0162671
database_cross_reference: OMIM:540000
in_subset: NCIthesaurus
imported from: doid.owl

brachial plexus neuritis
type: Class
subclass of: neuritis
subclass of: brachial plexus neuropathy
database_cross_reference: NCI:C84600
database_cross_reference: UMLS_CUI:C0221759
database_cross_reference: ICD10CM:G54.5
has_exact_synonym: Brachial neuritis
database_cross_reference: MESH:D020968
database_cross_reference: SNOMEDCT_US_2020_03_01:26609002
id: DOID:3689
has_obo_namespace: disease_ontology
has_exact_synonym: Parsonage-Aldren-Turner syndrome
in_subset: NCIthesaurus
imported from: doid.owl

olfactory neuroblastoma
type: Class
subclass of: olfactory nerve neoplasm
database_cross_reference: GARD:2197
has_exact_synonym: Asthesioneuroblastoma
database_cross_reference: SNOMEDCT_US_2020_03_01:76060004
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0206717
id: DOID:369
has_exact_synonym: Esthesioneuroblastoma
has_exact_synonym: Esthesioneuroepithelioma
database_cross_reference: MESH:D018304
database_cross_reference: NCI:C3789
has_exact_synonym: Olfactory Esthesioneuroblastoma
has_exact_synonym: paranasal sinus Olfactory neuroblastoma
in_subset: NCIthesaurus
imported from: doid.owl

brachial plexus neuropathy
type: Class
subclass of: neuropathy
database_cross_reference: NCI:C27194
database_cross_reference: ICD10CM:G54.0
database_cross_reference: MESH:D020516
has_exact_synonym: Brachial plexus disorder
database_cross_reference: UMLS_CUI:C0700251
id: DOID:3690
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:3548001
has_exact_synonym: brachial plexopathy
in_subset: NCIthesaurus
imported from: doid.owl

skin disease
type: Class
subclass of: integumentary system disease
has_alternative_id: DOID:187
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C156032
database_cross_reference: ICD9CM:702
has_alternative_id: DOID:6486
id: DOID:37
database_cross_reference: MESH:D012873
database_cross_reference: MESH:D012871
database_cross_reference: SNOMEDCT_US_2020_03_01:5613003
database_cross_reference: UMLS_CUI:C0029574
has_alternative_id: DOID:1698
definition: An integumentary system disease that is located_in skin.
has_alternative_id: DOID:1576
has_exact_synonym: Genodermatosis
database_cross_reference: NCI:C3371
has_alternative_id: DOID:8948
database_cross_reference: SNOMEDCT_US_2020_03_01:201095006
database_cross_reference: SNOMEDCT_US_2020_03_01:95320005
database_cross_reference: UMLS_CUI:C0037277
database_cross_reference: UMLS_CUI:C0037274
has_exact_synonym: skin and subcutaneous tissue disease
in_subset: NCIthesaurus
imported from: doid.owl

fallopian tube adenocarcinoma
type: Class
subclass of: fallopian tube carcinoma
subclass of: adenocarcinoma
definition: A fallopian tube carcinoma that derives_from epithelial cells of glandular origin.
id: DOID:3706
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6265
database_cross_reference: UMLS_CUI:C1333590
has_exact_synonym: adenocarcinoma of the fallopian tube
in_subset: NCIthesaurus
imported from: doid.owl

bladder adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: bladder carcinoma
id: DOID:3711
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0279682
definition: A bladder carcinoma that derives_from epithelial cells of glandular origin.
database_cross_reference: SNOMEDCT_US_2020_03_01:255110003
database_cross_reference: NCI:C4032
has_exact_synonym: adenocarcinoma of bladder
has_exact_synonym: adenocarcinoma of the urinary bladder
has_exact_synonym: bladder adenocarcinoma, Not Otherwise Specified
in_subset: NCIthesaurus
imported from: doid.owl

ovary adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: ovarian carcinoma
definition: An ovarian carcinoma that derives_from epithelial cells of glandular origin.
id: DOID:3713
database_cross_reference: UMLS_CUI:C0948216
has_alternative_id: DOID:7816
database_cross_reference: NCI:C7700
has_exact_synonym: Ovarian adenocarcinoma
has_related_synonym: adenocarcinoma of the ovary
has_obo_namespace: disease_ontology
has_exact_synonym: ovarian adenoacanthoma
in_subset: NCIthesaurus
imported from: doid.owl

gastric adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: stomach carcinoma
id: DOID:3717
database_cross_reference: SNOMEDCT_US_2020_03_01:408647009
database_cross_reference: UMLS_CUI:C0278701
database_cross_reference: NCI:C4004
has_obo_namespace: disease_ontology
definition: A stomach carcinoma that derives_from epithelial cells of glandular origin.
has_exact_synonym: adenocarcinoma of stomach
has_exact_synonym: stomach adenocarcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

plasmacytoma
type: Class
subclass of: plasma cell neoplasm
database_cross_reference: NCI:C9349
id: DOID:3721
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C90.3
database_cross_reference: MESH:D010954
has_exact_synonym: Myeloma - solitary
has_exact_synonym: Myeloma, solitary
database_cross_reference: SNOMEDCT_US_2020_03_01:302852008
database_cross_reference: UMLS_CUI:C0032131
has_exact_synonym: Solitary myeloma
has_exact_synonym: Solitary plasmacytoma
in_subset: NCIthesaurus
imported from: doid.owl

theileriasis
type: Class
subclass of: parasitic protozoa infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:68771000
definition: A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks.
database_cross_reference: UMLS_CUI:C0039753
id: DOID:3733
has_exact_synonym: Infection by Theileria
database_cross_reference: MESH:D013801
has_exact_synonym: theileriosis
in_subset: tick-borne infectious disease
imported from: doid.owl

verrucous carcinoma
type: Class
subclass of: squamous cell carcinoma
database_cross_reference: UMLS_CUI:C0206706
database_cross_reference: MESH:D018289
id: DOID:3737
database_cross_reference: NCI:C3781
has_obo_namespace: disease_ontology
definition: A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium.
database_cross_reference: SNOMEDCT_US_2020_03_01:89906000
has_exact_synonym: Warty carcinoma
has_exact_synonym: verrucous squamous carcinoma
has_exact_synonym: verrucous squamous cell carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

nutrition disease
type: Class
subclass of: acquired metabolic disease
id: DOID:374
database_cross_reference: UMLS_CUI:C3714509
database_cross_reference: SNOMEDCT_US_2020_03_01:191077005
definition: An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26836
database_cross_reference: MESH:D009748
has_exact_synonym: Nutritional disorder
in_subset: NCIthesaurus
imported from: doid.owl

cervical squamous cell carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: cervix carcinoma
id: DOID:3744
database_cross_reference: SNOMEDCT_US_2020_03_01:254886006
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0279671
database_cross_reference: NCI:C4028
definition: A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
has_exact_synonym: squamous cell carcinoma of cervix
has_exact_synonym: squamous cell carcinoma of the Cervix Uteri
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

esophagus squamous cell carcinoma
type: Class
subclass of: esophageal carcinoma
subclass of: squamous cell carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:276804009
database_cross_reference: UMLS_CUI:C0279626
id: DOID:3748
database_cross_reference: MESH:D000077277
database_cross_reference: NCI:C4024
has_obo_namespace: disease_ontology
definition: An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: SCC of esophagus
has_exact_synonym: SCC of oesophagus
has_exact_synonym: oesophagus squamous cell carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

larynx verrucous carcinoma
type: Class
subclass of: laryngeal squamous cell carcinoma
id: DOID:3752
database_cross_reference: NCI:C8188
database_cross_reference: UMLS_CUI:C0280328
has_obo_namespace: disease_ontology
has_exact_synonym: verrucous carcinoma of the Larynx
in_subset: NCIthesaurus
imported from: doid.owl

Hermansky-Pudlak syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
database_cross_reference: ORDO:280663
database_cross_reference: MESH:D022861
database_cross_reference: SNOMEDCT_US_2020_03_01:60255003
database_cross_reference: UMLS_CUI:C0079504
database_cross_reference: NCI:C37261
database_cross_reference: ICD10CM:E70.331
has_obo_namespace: disease_ontology
id: DOID:3753
database_cross_reference: ORDO:231531
database_cross_reference: OMIM:PS203300
database_cross_reference: ORDO:79430
database_cross_reference: ORDO:231537
database_cross_reference: GARD:6643
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

antithrombin III deficiency
type: Class
subclass of: autosomal dominant disease
subclass of: autosomal recessive disease
subclass of: thrombophilia
definition: A thrombophilia that is characterized by the tendency to form clots in the veins.
id: DOID:3755
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0272375
database_cross_reference: OMIM:613118
comment: Xref MGI.
database_cross_reference: MESH:D020152
database_cross_reference: ICD10CM:D68.59
database_cross_reference: SNOMEDCT_US_2020_03_01:36351005
has_exact_synonym: AT III deficiency
database_cross_reference: NCI:C98815
has_exact_synonym: hereditary thrombophilia due to congenital antithrombin deficiency
in_subset: NCIthesaurus
imported from: doid.owl

protein C deficiency
type: Class
subclass of: autosomal dominant disease
subclass of: thrombophilia
definition: A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
database_cross_reference: NCI:C99025
database_cross_reference: ORDO:745
database_cross_reference: GARD:4521
database_cross_reference: SNOMEDCT_US_2020_03_01:76407009
database_cross_reference: MESH:D020151
has_obo_namespace: disease_ontology
id: DOID:3756
database_cross_reference: ICD10CM:D68.59
database_cross_reference: UMLS_CUI:C0398625
in_subset: NCIthesaurus
imported from: doid.owl

hermaphroditism
type: Class
subclass of: disorder of sexual development
database_cross_reference: UMLS_CUI:C0019269
database_cross_reference: MESH:D012734
id: DOID:3763
database_cross_reference: SNOMEDCT_US_2020_03_01:52572004
database_cross_reference: NCI:C45909
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

Denys-Drash syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
comment: OMIM mapping confirmed by DO. [SN].
definition: A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
database_cross_reference: OMIM:194080
database_cross_reference: MESH:D030321
has_obo_namespace: disease_ontology
id: DOID:3764
database_cross_reference: UMLS_CUI:C0950121
database_cross_reference: NCI:C84668
database_cross_reference: SNOMEDCT_US_2020_03_01:236385009
database_cross_reference: GARD:5576
in_subset: NCIthesaurus
imported from: doid.owl

pseudohermaphroditism
type: Class
subclass of: disorder of sexual development
database_cross_reference: SNOMEDCT_US_2020_03_01:204895009
has_obo_namespace: disease_ontology
id: DOID:3765
database_cross_reference: SNOMEDCT_US_2020_03_01:268328009
has_alternative_id: DOID:11226
database_cross_reference: MESH:D012734
database_cross_reference: UMLS_CUI:C0021193
database_cross_reference: UMLS_CUI:C0033804
database_cross_reference: ICD9CM:752.7
database_cross_reference: ICD10CM:Q56.3
has_exact_synonym: Indeterminate sex and pseudohermaphroditism
database_cross_reference: NCI:C124575
database_cross_reference: ICD10CM:Q56
in_subset: NCIthesaurus
imported from: doid.owl

leukorrhea
type: Class
subclass of: vaginal discharge
has_obo_namespace: disease_ontology
id: DOID:3766
database_cross_reference: SNOMEDCT_US_2020_03_01:156017008
database_cross_reference: NCI:C34775
definition: A vaginal discharge that is characterized by a whitish or yellow color.
database_cross_reference: UMLS_CUI:C0023533
database_cross_reference: ICD10CM:N89.8
has_exact_synonym: Leukorrhea of vagina
database_cross_reference: MESH:D007973
has_exact_synonym: discharge - leukorrhea
in_subset: NCIthesaurus
imported from: doid.owl

vaginal discharge
type: Class
subclass of: vaginal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:70856007
database_cross_reference: NCI:C50795
database_cross_reference: UMLS_CUI:C0227791
database_cross_reference: MESH:D019522
definition: A vaginal disease that is characterized by the presence of discharge.
id: DOID:3767
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary fibrosis
type: Class
subclass of: interstitial lung disease
database_cross_reference: SNOMEDCT_US_2020_03_01:155613001
id: DOID:3770
definition: An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation.
database_cross_reference: MESH:D011658
database_cross_reference: NCI:C26869
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0034069
has_exact_synonym: Fibrosis of lung
in_subset: NCIthesaurus
imported from: doid.owl

chordoid glioma
type: Class
subclass of: malignant glioma
database_cross_reference: UMLS_CUI:C1322252
has_exact_synonym: Chordoid glioma
database_cross_reference: SNOMEDCT_US_2020_03_01:128789002
id: DOID:3774
database_cross_reference: NCI:C5592
has_obo_namespace: disease_ontology
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

anovulation
type: Class
subclass of: ovarian disease
definition: An ovarian disease that is characterized by the absence of ovulation.
id: DOID:3781
database_cross_reference: UMLS_CUI:C0003128
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:34571000
database_cross_reference: NCI:C34388
database_cross_reference: MESH:D000858
in_subset: NCIthesaurus
imported from: doid.owl

Coffin-Lowry syndrome
type: Class
subclass of: X-linked dominant disease
subclass of: syndrome
database_cross_reference: OMIM:303600
id: DOID:3783
definition: A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
database_cross_reference: NCI:C84643
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6123
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D038921
database_cross_reference: SNOMEDCT_US_2020_03_01:15182000
database_cross_reference: UMLS_CUI:C0265252
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

external ear disease
type: Class
subclass of: auditory system disease
database_cross_reference: ICD10CM:H61.9
database_cross_reference: UMLS_CUI:C0155388
id: DOID:379
has_alternative_id: DOID:835
database_cross_reference: NCI:C26972
database_cross_reference: SNOMEDCT_US_2020_03_01:49130001
has_alternative_id: DOID:13122
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:380
has_exact_synonym: Preauricular cyst
has_exact_synonym: Preauricular sinus and fistula
has_exact_synonym: Preauricular sinus or fistula
in_subset: NCIthesaurus
imported from: doid.owl

pleural empyema
type: Class
subclass of: pleural disease
database_cross_reference: ICD10CM:J86
id: DOID:3798
database_cross_reference: MESH:D016724
has_alternative_id: DOID:11023
database_cross_reference: UMLS_CUI:C0014013
comment: Updating outdated UMLS CUI.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14304
has_alternative_id: DOID:13630
database_cross_reference: NCI:C45692
definition: A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
has_exact_synonym: Empyema
has_exact_synonym: Empyema of pleura
has_exact_synonym: Empyema of pleura without fistula
has_exact_synonym: Empyema with fistula
has_exact_synonym: Empyema with no fistula
has_exact_synonym: Empyema with pleural fistula
has_exact_synonym: Empyema without mention of fistula
has_exact_synonym: Empyema, chest
has_exact_synonym: Pleural empyema with fistula
has_exact_synonym: Purulent pleurisy
database_cross_reference: SNOMEDCT_US_2020_03_01:196069007
has_exact_synonym: Thorax abscess
has_exact_synonym: abscess of pleural cavity
has_exact_synonym: abscess of thorax
has_exact_synonym: empyema
has_exact_synonym: empyema with fistula
has_exact_synonym: lung empyema
has_exact_synonym: pleural empyema with no fistula
has_exact_synonym: purulent pleuritis
has_exact_synonym: pyothorax
in_subset: NCIthesaurus
imported from: doid.owl

arthropathy
type: Class
subclass of: bone disease
database_cross_reference: MESH:D007592
database_cross_reference: ICD9CM:719.90
has_alternative_id: DOID:13960
has_obo_namespace: disease_ontology
has_alternative_id: DOID:226
has_alternative_id: DOID:1903
definition: A bone disease that is located_in the joint.
database_cross_reference: ICD10CM:M00-M02
id: DOID:381
database_cross_reference: SNOMEDCT_US_2020_03_01:48548006
has_alternative_id: DOID:546
has_alternative_id: DOID:2318
has_alternative_id: DOID:2317
has_exact_synonym: Ankylosis of joint of ankle and/or foot
has_exact_synonym: Ankylosis of joint of forearm
has_exact_synonym: Ankylosis of joint of hand
has_exact_synonym: Ankylosis of joint of lower leg
has_exact_synonym: Ankylosis of joint of multiple sites
has_exact_synonym: Ankylosis of joint of upper arm
database_cross_reference: ICD10CM:M12.9
database_cross_reference: UMLS_CUI:C0157749
has_exact_synonym: Ankylosis of multiple joints
database_cross_reference: NCI:C78402
database_cross_reference: ICD9CM:711
has_alternative_id: DOID:9489
database_cross_reference: SNOMEDCT_US_2020_03_01:8316001
has_exact_synonym: Ankylosis of joint of shoulder region
has_alternative_id: DOID:1843
has_exact_synonym: Infectious arthropathy
has_exact_synonym: Joint ankylosis of the ankle and foot
has_exact_synonym: Joint ankylosis of the ankle and/or foot
has_exact_synonym: Joint ankylosis of the forearm
has_exact_synonym: Joint ankylosis of the hand
has_exact_synonym: Joint ankylosis of the lower leg
has_exact_synonym: Joint ankylosis of the pelvic region and thigh
has_exact_synonym: Joint ankylosis of the shoulder region
has_exact_synonym: Joint ankylosis of the upper arm
database_cross_reference: NCI:C35760
has_alternative_id: DOID:13871
database_cross_reference: UMLS_CUI:C0022408
has_exact_synonym: ankylosis of ankle and foot joint
has_exact_synonym: ankylosis of forearm joint
has_exact_synonym: ankylosis of hand joint
has_exact_synonym: ankylosis of joint of multiple sites
has_exact_synonym: ankylosis of joint of pelvic region and thigh
has_exact_synonym: ankylosis of joint of shoulder region
has_exact_synonym: ankylosis of lower leg joint
has_exact_synonym: ankylosis of upper arm joint
in_subset: NCIthesaurus
imported from: doid.owl

photoallergic dermatitis
type: Class
subclass of: allergic contact dermatitis
id: DOID:3818
database_cross_reference: MESH:D017454
database_cross_reference: UMLS_CUI:C0162824
has_obo_namespace: disease_ontology
definition: An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema.
has_exact_synonym: Photoallergic contact dermatitis
has_exact_synonym: Photoallergic dermatitis
has_exact_synonym: Photoallergic eczema
database_cross_reference: SNOMEDCT_US_2020_03_01:111209006
imported from: doid.owl

congenital diaphragmatic hernia
type: Class
subclass of: physical disorder
subclass of: diaphragm disease
database_cross_reference: MESH:D006548
database_cross_reference: ICD10CM:K44
database_cross_reference: UMLS_CUI:C0019284
has_obo_namespace: disease_ontology
definition: A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.
database_cross_reference: OMIM:610187
database_cross_reference: GARD:1481
database_cross_reference: ORDO:2140
database_cross_reference: SNOMEDCT_US_2020_03_01:155748004
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C34687
id: DOID:3827
has_exact_synonym: Diaphragmatic Hernia
database_cross_reference: OMIM:142340
database_cross_reference: OMIM:222400
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

pituitary adenoma
type: Class
subclass of: pituitary gland benign neoplasm
subclass of: adenoma
id: DOID:3829
database_cross_reference: NCI:C3329
database_cross_reference: MESH:D010911
database_cross_reference: SNOMEDCT_US_2020_03_01:154621002
database_cross_reference: UMLS_CUI:C0032000
database_cross_reference: OMIM:PS102200
definition: A pituitary gland benign neoplasm that derives_from glandular epithelial cells.
has_exact_synonym: adenoma of the Pituitary gland
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

Wolff-Parkinson-White syndrome
type: Class
subclass of: heart conduction disease
has_alternative_id: DOID:10392
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35132
has_exact_synonym: Anomalous A-V excitation
database_cross_reference: SNOMEDCT_US_2020_03_01:74390002
database_cross_reference: ICD10CM:I45.6
database_cross_reference: SNOMEDCT_US_2020_03_01:195057009
database_cross_reference: OMIM:194200
id: DOID:384
database_cross_reference: GARD:7897
database_cross_reference: UMLS_CUI:C0043202
comment: OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0392470
database_cross_reference: ICD9CM:426.7
database_cross_reference: MESH:D014927
has_exact_synonym: Wolff-Parkinson-White pattern
has_exact_synonym: anomalous atrioventricular excitation
in_subset: NCIthesaurus
imported from: doid.owl

craniopharyngioma
type: Class
subclass of: central nervous system benign neoplasm
database_cross_reference: GARD:10486
id: DOID:3840
database_cross_reference: UMLS_CUI:C0010276
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2964
database_cross_reference: SNOMEDCT_US_2020_03_01:189179009
database_cross_reference: MESH:D003397
has_exact_synonym: neoplasm of Rathke's Pouch
in_subset: NCIthesaurus
imported from: doid.owl

skull base cancer
type: Class
subclass of: skull cancer
database_cross_reference: MESH:D019292
database_cross_reference: UMLS_CUI:C0376527
id: DOID:3842
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4676
has_exact_synonym: tumors of Skull Base
in_subset: NCIthesaurus
imported from: doid.owl

diencephalic neoplasm
type: Class
subclass of: supratentorial cancer
database_cross_reference: UMLS_CUI:C1334576
database_cross_reference: NCI:C5125
database_cross_reference: UMLS_CUI:C1333286
id: DOID:3843
database_cross_reference: NCI:C5126
has_alternative_id: DOID:6097
has_obo_namespace: disease_ontology
has_exact_synonym: malignant Diencephalic tumor
has_exact_synonym: malignant diencephalic neoplasm
has_exact_synonym: tumor of Diencephalon
in_subset: NCIthesaurus
imported from: doid.owl

Peutz-Jeghers syndrome
type: Class
subclass of: intestinal disease
database_cross_reference: UMLS_CUI:C0031269
id: DOID:3852
database_cross_reference: NCI:C4733
has_exact_synonym: Colonic hamartomatous polyp
database_cross_reference: NCI:C3324
database_cross_reference: SNOMEDCT_US_2020_03_01:157029009
database_cross_reference: ORDO:2869
database_cross_reference: SNOMEDCT_US_2020_03_01:53633000
database_cross_reference: ICD10CM:Q85.8
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:7378
database_cross_reference: SNOMEDCT_US_2020_03_01:277161008
database_cross_reference: OMIM:175200
has_obo_namespace: disease_ontology
has_alternative_id: DOID:4134
database_cross_reference: NCI:C7755
has_alternative_id: DOID:4133
has_alternative_id: DOID:6253
has_alternative_id: DOID:6252
database_cross_reference: MESH:D010580
has_exact_synonym: Peutz-Jeghers polyp of small Intestine
database_cross_reference: UMLS_CUI:C0265323
has_exact_synonym: Peutz Jeghers colon polyp
database_cross_reference: UMLS_CUI:C0456487
has_exact_synonym: Peutz Jeghers polyp
has_exact_synonym: gastric Peutz-Jeghers polyp
has_exact_synonym: peutz-jeghers small bowel hamartoma
in_subset: NCIthesaurus
imported from: doid.owl

seminal vesicle tumor
type: Class
subclass of: male reproductive organ benign neoplasm
database_cross_reference: NCI:C39908
database_cross_reference: UMLS_CUI:C0341767
id: DOID:3855
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:236740006
has_exact_synonym: Seminal Vesicle neoplasm
has_exact_synonym: seminal vesicle tumour
has_exact_synonym: tumor of seminal vesicle
has_exact_synonym: tumour of seminal vesicle
in_subset: NCIthesaurus
imported from: doid.owl

male reproductive organ cancer
type: Class
subclass of: reproductive organ cancer
subclass of: male reproductive system disease
database_cross_reference: MESH:D005834
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3054
database_cross_reference: SNOMEDCT_US_2020_03_01:126895004
database_cross_reference: ICD10CM:C63.9
has_alternative_id: DOID:10284
database_cross_reference: NCI:C8561
database_cross_reference: ICD9CM:187.9
id: DOID:3856
database_cross_reference: UMLS_CUI:C0153606
database_cross_reference: UMLS_CUI:C0017417
definition: A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.
database_cross_reference: SNOMEDCT_US_2020_03_01:363515000
has_exact_synonym: male genital cancer
has_related_synonym: male genital neoplasm
has_exact_synonym: male reproductive system neoplasm
has_exact_synonym: malignant neoplasm of male genital organ
has_exact_synonym: malignant neoplasm of male genital organ or tract
has_exact_synonym: malignant neoplasm of male genital organs
has_exact_synonym: malignant tumor of male Reproductive system
has_exact_synonym: malignant tumor of male genital organ
has_exact_synonym: neoplasm of male genital organ
has_exact_synonym: tumor of male Reproductive system
in_subset: NCIthesaurus
imported from: doid.owl

large cell medulloblastoma
type: Class
subclass of: medulloblastoma
id: DOID:3857
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6904
database_cross_reference: UMLS_CUI:C1266180
database_cross_reference: SNOMEDCT_US_2020_03_01:128790006
definition: A medulloblastoma that is characterized by cells that are larger than would be normally expected.
has_exact_synonym: large cell Medulloblastoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

medullomyoblastoma
type: Class
subclass of: medulloblastoma
database_cross_reference: SNOMEDCT_US_2020_03_01:24604009
database_cross_reference: MESH:D008527
id: DOID:3861
has_obo_namespace: disease_ontology
has_exact_synonym: Medullomyoblastoma
database_cross_reference: UMLS_CUI:C0205833
database_cross_reference: NCI:C3706
in_subset: NCIthesaurus
imported from: doid.owl

adult medulloblastoma
type: Class
subclass of: medulloblastoma
database_cross_reference: UMLS_CUI:C0278876
database_cross_reference: NCI:C9373
database_cross_reference: NCI:C4011
has_alternative_id: DOID:6380
database_cross_reference: MESH:D008527
id: DOID:3864
database_cross_reference: UMLS_CUI:C1332188
has_exact_synonym: adult brain medulloblastoma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

childhood medulloblastoma
type: Class
subclass of: medulloblastoma
database_cross_reference: MESH:D008527
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3997
id: DOID:3869
database_cross_reference: UMLS_CUI:C0278510
has_exact_synonym: pediatric Medulloblastoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

functional colonic disease
type: Class
subclass of: colonic disease
database_cross_reference: UMLS_CUI:C0009374
database_cross_reference: MESH:D003109
id: DOID:3877
has_obo_namespace: disease_ontology
imported from: doid.owl

Lynch syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: UMLS_CUI:C0009405
definition: A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
id: DOID:3883
database_cross_reference: ORDO:144
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:315058005
has_alternative_id: DOID:3040
has_exact_synonym: HNPCC - hereditary nonpolyposis colon cancer
database_cross_reference: NCI:C120083
database_cross_reference: MESH:D003123
database_cross_reference: UMLS_CUI:C1333990
has_exact_synonym: COCA 1
has_alternative_id: DOID:0050586
has_exact_synonym: Hereditary Defective Mismatch Repair syndrome
database_cross_reference: OMIM:PS120435
database_cross_reference: GARD:9905
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: hereditary nonpolyposis colorectal cancer
has_exact_synonym: hereditary nonpolyposis colorectal neoplasm
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

acute intermittent porphyria
type: Class
subclass of: acute porphyria
database_cross_reference: NCI:C84536
database_cross_reference: GARD:5732
id: DOID:3890
database_cross_reference: OMIM:176000
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:190914003
database_cross_reference: MESH:D017118
database_cross_reference: UMLS_CUI:C0162565
has_exact_synonym: AIP - acute intermittent porphyria
has_exact_synonym: Pyrroloporphyria
has_exact_synonym: porphyria intermittent acute
in_subset: NCIthesaurus
imported from: doid.owl

placental insufficiency
type: Class
subclass of: placenta disease
definition: A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0032051
database_cross_reference: SNOMEDCT_US_2020_03_01:156185006
database_cross_reference: MESH:D010927
id: DOID:3891
imported from: doid.owl

insulinoma
type: Class
subclass of: cell type benign neoplasm
subclass of: pancreatic cystadenoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C95598
database_cross_reference: SNOMEDCT_US_2020_03_01:25324008
database_cross_reference: MESH:D007516
database_cross_reference: UMLS_CUI:C0021670
database_cross_reference: MESH:D007340
database_cross_reference: GARD:3010
database_cross_reference: NCI:C65184
database_cross_reference: UMLS_CUI:C0022134
id: DOID:3892
database_cross_reference: SNOMEDCT_US_2020_03_01:189586007
definition: A pancreatic cystadenoma that is characterized by the overproduction of insulin.
has_alternative_id: DOID:3903
has_exact_synonym: Insulin-Producing tumor of Islet cells
has_exact_synonym: Islet cell adenoma
in_subset: NCIthesaurus
imported from: doid.owl

hidrocystoma
type: Class
subclass of: apocrine sweat gland neoplasm
has_obo_namespace: disease_ontology
has_exact_synonym: Apocrine Cystadenoma
has_exact_synonym: Apocrine cystadenoma
database_cross_reference: NCI:C3760
id: DOID:3893
has_exact_synonym: Eccrine Cystadenoma
has_exact_synonym: Hidrocystoma
database_cross_reference: SNOMEDCT_US_2020_03_01:80549000
database_cross_reference: UMLS_CUI:C0206672
database_cross_reference: MESH:D018251
has_exact_synonym: Eccrine hidrocystoma of skin
in_subset: NCIthesaurus
imported from: doid.owl

apocrine adenoma
type: Class
subclass of: apocrine sweat gland neoplasm
database_cross_reference: UMLS_CUI:C0334345
database_cross_reference: NCI:C4168
has_obo_namespace: disease_ontology
id: DOID:3895
database_cross_reference: SNOMEDCT_US_2020_03_01:307596009
has_exact_synonym: tubular Apocrine adenoma
in_subset: NCIthesaurus
imported from: doid.owl

hidradenoma
type: Class
subclass of: cell type benign neoplasm
subclass of: sweat gland benign neoplasm
id: DOID:3896
database_cross_reference: UMLS_CUI:C0019522
definition: A sweat gland benign neoplasm that is located_in an apical sweat gland.
database_cross_reference: SNOMEDCT_US_2020_03_01:81393009
has_exact_synonym: Hidradenoma of skin
database_cross_reference: NCI:C7560
has_exact_synonym: Sweat gland adenoma
has_exact_synonym: Syringoadenoma
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D006607
in_subset: NCIthesaurus
imported from: doid.owl

vulvitis
type: Class
subclass of: vulvar disease
database_cross_reference: ICD10CM:N76.2
has_obo_namespace: disease_ontology
id: DOID:3901
definition: A vulvar disease that is characterized by inflammation of the vulva.
database_cross_reference: UMLS_CUI:C0042996
database_cross_reference: MESH:D014847
database_cross_reference: SNOMEDCT_US_2020_03_01:63144007
imported from: doid.owl

bronchus carcinoma
type: Class
subclass of: bronchus cancer
subclass of: carcinoma
database_cross_reference: NCI:C35875
id: DOID:3904
definition: A bronchus cancer that has_material_basis_in epithelial cells.
database_cross_reference: UMLS_CUI:C0007121
database_cross_reference: SNOMEDCT_US_2020_03_01:254622008
database_cross_reference: MESH:D002283
has_exact_synonym: BC - Bronchogenic carcinoma
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

lung carcinoma
type: Class
subclass of: lung cancer
subclass of: carcinoma
comment: OMIM mapping confirmed by DO. [SN].
definition: A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
database_cross_reference: NCI:C4878
has_obo_namespace: disease_ontology
id: DOID:3905
database_cross_reference: SNOMEDCT_US_2020_03_01:154485001
database_cross_reference: EFO:0001071
database_cross_reference: UMLS_CUI:C0684249
has_exact_synonym: cancer of lung
has_related_synonym: carcinoma of lung
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

bronchial benign neoplasm
type: Class
subclass of: respiratory system benign neoplasm
subclass of: bronchial disease
database_cross_reference: MESH:D001984
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0006264
id: DOID:3906
database_cross_reference: SNOMEDCT_US_2020_03_01:126705004
has_exact_synonym: bronchus neoplasm
has_exact_synonym: neoplasm of bronchus
imported from: doid.owl

lung squamous cell carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: lung non-small cell carcinoma
database_cross_reference: UMLS_CUI:C0149782
has_obo_namespace: disease_ontology
id: DOID:3907
definition: A non-small cell lung carcinoma that has_material_basis_in the squamous cell.
has_exact_synonym: Epidermoid cell carcinoma of the lung
database_cross_reference: SNOMEDCT_US_2020_03_01:254634000
database_cross_reference: NCI:C3493
has_related_synonym: squamous cell carcinoma of lung
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

lung non-small cell carcinoma
type: Class
subclass of: lung carcinoma
database_cross_reference: NCI:C2926
database_cross_reference: UMLS_CUI:C0007131
id: DOID:3908
definition: A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
database_cross_reference: EFO:0003060
database_cross_reference: SNOMEDCT_US_2020_03_01:254637007
database_cross_reference: MESH:D002289
database_cross_reference: KEGG:05223
has_exact_synonym: NSCLC
has_exact_synonym: Non-small cell lung cancer
has_obo_namespace: disease_ontology
has_exact_synonym: non-small cell lung carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

progeria
type: Class
subclass of: autosomal genetic disease
subclass of: syndrome
database_cross_reference: NCI:C34951
has_exact_synonym: Hutchinson Gilford syndrome
has_exact_synonym: Hutchinson-Gilford disease
database_cross_reference: ORDO:740
database_cross_reference: UMLS_CUI:C0033300
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:7467
database_cross_reference: SNOMEDCT_US_2020_03_01:190590004
database_cross_reference: MEDDRA:10036794
definition: A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22.
database_cross_reference: OMIM:176670
database_cross_reference: ICD10CM:E34.8
has_obo_namespace: disease_ontology
id: DOID:3911
has_exact_synonym: HGPS
has_exact_synonym: Hutchinson-Gilford Progeria syndrome
database_cross_reference: MESH:D011371
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

pancreatic cystadenoma
type: Class
subclass of: gastrointestinal system benign neoplasm
subclass of: pancreas disease
database_cross_reference: UMLS_CUI:C0341486
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4374
id: DOID:3918
database_cross_reference: SNOMEDCT_US_2020_03_01:235967003
in_subset: NCIthesaurus
imported from: doid.owl

diffuse lipomatosis
type: Class
subclass of: lipomatosis
database_cross_reference: NCI:C6504
id: DOID:3923
database_cross_reference: UMLS_CUI:C1333298
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

pelvic lipomatosis
type: Class
subclass of: lipomatosis
database_cross_reference: GARD:7350
database_cross_reference: UMLS_CUI:C0406608
database_cross_reference: SNOMEDCT_US_2020_03_01:190802005
has_obo_namespace: disease_ontology
id: DOID:3927
database_cross_reference: MESH:C535549
database_cross_reference: NCI:C27486
in_subset: NCIthesaurus
imported from: doid.owl

otitis interna
type: Class
subclass of: inner ear disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C27339
definition: An inner ear disease which involves inflammation of the inner ear.
id: DOID:3930
database_cross_reference: UMLS_CUI:C1168225
has_exact_synonym: inner ear infection
in_subset: NCIthesaurus
imported from: doid.owl

lipomatous cancer
type: Class
subclass of: connective tissue cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:254828009
database_cross_reference: NCI:C4501
has_obo_namespace: disease_ontology
id: DOID:3939
database_cross_reference: UMLS_CUI:C0346117
has_exact_synonym: malignant lipomatous tumor
has_exact_synonym: malignant tumor of Adipose tissue
in_subset: NCIthesaurus
imported from: doid.owl

pituitary-dependent Cushing's disease
type: Class
subclass of: hyperpituitarism
database_cross_reference: ICD10CM:E24.0
database_cross_reference: MESH:D047748
id: DOID:3946
database_cross_reference: SNOMEDCT_US_2020_03_01:190502001
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0221406
database_cross_reference: NCI:C113210
has_exact_synonym: Overproduction of ACTH
has_exact_synonym: pituitary-dependent Cushing disease
in_subset: NCIthesaurus
imported from: doid.owl

adrenal gland hyperfunction
type: Class
subclass of: adrenal gland disease
has_exact_synonym: Adrenocortical hyperfunction
database_cross_reference: MESH:D000308
database_cross_reference: SNOMEDCT_US_2020_03_01:47270006
database_cross_reference: UMLS_CUI:C0001622
id: DOID:3947
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C113208
has_exact_synonym: hyperadrenalism
has_exact_synonym: hypercortisolism
in_subset: NCIthesaurus
imported from: doid.owl

adrenocortical carcinoma
type: Class
subclass of: carcinoma
subclass of: adrenal cortex cancer
database_cross_reference: OMIM:202300
database_cross_reference: MESH:D018268
has_obo_namespace: disease_ontology
database_cross_reference: GARD:558
database_cross_reference: NCI:C9325
database_cross_reference: UMLS_CUI:C0206686
definition: An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has_exact_synonym: Adrenal cortical carcinoma
id: DOID:3948
database_cross_reference: SNOMEDCT_US_2020_03_01:255035007
has_exact_synonym: carcinoma of the Adrenal cortex
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

adrenal carcinoma
type: Class
subclass of: carcinoma
subclass of: adrenal gland cancer
has_obo_namespace: disease_ontology
definition: An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
id: DOID:3950
has_exact_synonym: carcinoma of the Adrenal gland
imported from: doid.owl

acute myocarditis
type: Class
subclass of: myocarditis
database_cross_reference: NCI:C35206
database_cross_reference: UMLS_CUI:C0155686
database_cross_reference: SNOMEDCT_US_2020_03_01:155336004
has_obo_namespace: disease_ontology
id: DOID:3951
database_cross_reference: ICD9CM:422
database_cross_reference: ICD10CM:I40
in_subset: NCIthesaurus
imported from: doid.owl

adrenal cortex disease
type: Class
subclass of: adrenal gland disease
has_obo_namespace: disease_ontology
id: DOID:3952
database_cross_reference: UMLS_CUI:C0001614
database_cross_reference: MESH:D000303
database_cross_reference: SNOMEDCT_US_2020_03_01:129636003
imported from: doid.owl

adrenal gland cancer
type: Class
subclass of: endocrine gland cancer
subclass of: adrenal gland disease
database_cross_reference: ICD9CM:194.0
database_cross_reference: NCI:C2859
database_cross_reference: UMLS_CUI:C0750887
database_cross_reference: ICD10CM:C74
database_cross_reference: SNOMEDCT_US_2020_03_01:127021009
database_cross_reference: UMLS_CUI:C0001624
database_cross_reference: NCI:C9338
database_cross_reference: GARD:5751
has_alternative_id: DOID:11007
has_obo_namespace: disease_ontology
id: DOID:3953
definition: An endocrine gland cancer located_in the adrenal glands which are located above the kidneys.
database_cross_reference: MESH:D000310
database_cross_reference: SNOMEDCT_US_2020_03_01:93665005
has_exact_synonym: adrenal cancer
has_exact_synonym: adrenal neoplasm
has_exact_synonym: malignant Adrenal tumor
has_exact_synonym: malignant neoplasm of adrenal gland
has_exact_synonym: neoplasm of adrenal gland
has_exact_synonym: tumor of the Adrenal gland
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

thyroid gland carcinoma
type: Class
subclass of: thyroid gland cancer
subclass of: carcinoma
definition: A thyroid gland cancer that has_material_basis_in epithelial cells.
database_cross_reference: EFO:0002892
database_cross_reference: UMLS_CUI:C0549473
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4815
id: DOID:3963
database_cross_reference: MESH:D013964
has_exact_synonym: head and neck cancer, Thyroid
has_exact_synonym: thyroid gland carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

Merkel cell carcinoma
type: Class
subclass of: skin carcinoma
id: DOID:3965
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0302182
database_cross_reference: SNOMEDCT_US_2020_03_01:29792007
database_cross_reference: GARD:9266
database_cross_reference: NCI:C4068
has_exact_synonym: Trabecular adenocarcinoma
has_exact_synonym: trabecular carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

thyroid gland papillary carcinoma
type: Class
subclass of: differentiated thyroid gland carcinoma
database_cross_reference: UMLS_CUI:C0238463
definition: A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer abd arises from the follicular cells of the thyroid gland.
database_cross_reference: OMIM:188550
database_cross_reference: GARD:12027
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:255029007
id: DOID:3969
database_cross_reference: MESH:D000077273
database_cross_reference: NCI:C4035
has_exact_synonym: Papillary carcinoma of the Thyroid gland
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

restrictive cardiomyopathy
type: Class
subclass of: intrinsic cardiomyopathy
definition: An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.
has_exact_synonym: Cardiomyopathy, constrictive
has_related_synonym: Familial restrictive cardiomyopathy
database_cross_reference: ORDO:75249
comment: Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK].
database_cross_reference: ICD10CM:I42.5
database_cross_reference: SNOMEDCT_US_2020_03_01:389996009
database_cross_reference: OMIM:PS115210
database_cross_reference: OMIM:115210
database_cross_reference: MESH:D002313
database_cross_reference: UMLS_CUI:C0007196
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C62798
id: DOID:397
has_exact_synonym: Restrictive cardiomyopathy
has_exact_synonym: primary restrictive cardiomyopathy
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

thyroid gland medullary carcinoma
type: Class
subclass of: thyroid gland carcinoma
database_cross_reference: NCI:C3879
id: DOID:3973
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:255032005
database_cross_reference: UMLS_CUI:C0238462
definition: A thyroid gland carcinoma that has_material_basis_in parafollicular cells.
database_cross_reference: MESH:C536914
has_exact_synonym: Medullary carcinoma of the Thyroid gland
has_exact_synonym: Medullary thyroid carcinoma
has_exact_synonym: Ultimobranchial thyroid tumor
has_exact_synonym: Ultimobranchial thyroid tumour
has_exact_synonym: medullary thyroid carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

extrinsic cardiomyopathy
type: Class
subclass of: cardiomyopathy
database_cross_reference: ICD9CM:425.8
database_cross_reference: SNOMEDCT_US_2020_03_01:195580005
definition: A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium.
database_cross_reference: UMLS_CUI:C0155699
has_obo_namespace: disease_ontology
id: DOID:3978
imported from: doid.owl

pantothenate kinase-associated neurodegeneration
type: Class
subclass of: autosomal recessive disease
subclass of: neurodegeneration with brain iron accumulation
database_cross_reference: ICD10CM:G23.0
comment: OMIM mapping confirmed by DO. [SN].
definition: A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
database_cross_reference: GARD:6564
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:157850
database_cross_reference: OMIM:234200
database_cross_reference: MESH:D006211
database_cross_reference: SNOMEDCT_US_2020_03_01:2992000
database_cross_reference: UMLS_CUI:C0018523
database_cross_reference: NCI:C8967
id: DOID:3981
has_exact_synonym: Hallervorden-Spatz disease
has_exact_synonym: Hallervorden-Spatz syndrome
has_exact_synonym: NBIA1
has_exact_synonym: Pigmentary pallidal degeneration
has_exact_synonym: brain Iron Accumulation type I syndrome
has_exact_synonym: neurodegeneration with brain iron accumulation 1
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Meige syndrome
type: Class
subclass of: cranio-facial dystonia
id: DOID:3982
database_cross_reference: MESH:D008538
database_cross_reference: GARD:7008
database_cross_reference: UMLS_CUI:C0025183
database_cross_reference: SNOMEDCT_US_2020_03_01:230325003
has_obo_namespace: disease_ontology
definition: A cranio-facial dystonia that is accompanied by blepharospasm.
imported from: doid.owl

ostertagiasis
type: Class
subclass of: trichostrongyloidiasis
has_obo_namespace: disease_ontology
definition: A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia.
database_cross_reference: UMLS_CUI:C0029471
id: DOID:3985
database_cross_reference: MESH:D010029
imported from: doid.owl

tuberculosis
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: GARD:7827
database_cross_reference: MESH:D014375
has_alternative_id: DOID:415
database_cross_reference: UMLS_CUI:C0041295
has_alternative_id: DOID:10096
has_obo_namespace: disease_ontology
has_alternative_id: DOID:12691
definition: A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.
id: DOID:399
has_alternative_id: DOID:12688
has_alternative_id: DOID:9902
has_alternative_id: DOID:9901
database_cross_reference: SNOMEDCT_US_2020_03_01:15202009
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

urinary system cancer
type: Class
subclass of: organ system cancer
subclass of: urinary system disease
definition: An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra.
database_cross_reference: ICD10CM:C68.9
database_cross_reference: SNOMEDCT_US_2020_03_01:448233000
database_cross_reference: ICD9CM:189.9
id: DOID:3996
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0348371
imported from: doid.owl

disease
type: Class
id: DOID:4
database_cross_reference: NCI:C2991
definition: A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
database_cross_reference: UMLS_CUI:C0012634
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004194
database_cross_reference: SNOMEDCT_US_2020_03_01:64572001
in_subset: NCIthesaurus
imported from: doid.owl

ovarian carcinoma
type: Class
subclass of: malignant ovarian surface epithelial-stromal neoplasm
comment: OMIM mapping confirmed by DO. [SN].
definition: An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.
id: DOID:4001
database_cross_reference: EFO:0001075
has_exact_synonym: Ovarian carcinoma
database_cross_reference: UMLS_CUI:C0677886
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

bladder urothelial carcinoma
type: Class
subclass of: transitional cell carcinoma
subclass of: bladder carcinoma
database_cross_reference: UMLS_CUI:C0279680
database_cross_reference: NCI:C39851
database_cross_reference: SNOMEDCT_US_2020_03_01:393562002
has_obo_namespace: disease_ontology
id: DOID:4006
definition: A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.
has_exact_synonym: bladder transitional cell carcinoma
has_exact_synonym: transitional cell carcinoma of bladder
has_exact_synonym: urinary bladder urothelial carcinoma
has_exact_synonym: urothelial bladder carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

bladder carcinoma
type: Class
subclass of: urinary bladder cancer
subclass of: carcinoma
id: DOID:4007
database_cross_reference: NCI:C4912
has_obo_namespace: disease_ontology
definition: A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
database_cross_reference: UMLS_CUI:C0699885
database_cross_reference: EFO:0000292
database_cross_reference: SNOMEDCT_US_2020_03_01:269607003
has_exact_synonym: carcinoma of urinary bladder
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

multidrug-resistant tuberculosis
type: Class
subclass of: tuberculosis
definition: A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.
database_cross_reference: UMLS_CUI:C0206526
database_cross_reference: SNOMEDCT_US_2020_03_01:423092005
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018088
id: DOID:401
database_cross_reference: NCI:C128415
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

papillary transitional carcinoma
type: Class
subclass of: transitional cell carcinoma
database_cross_reference: UMLS_CUI:C0334274
definition: A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.
id: DOID:4012
has_exact_synonym: Papillary transitional cell carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:12400006
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4122
in_subset: NCIthesaurus
imported from: doid.owl

ureterocele
type: Class
subclass of: ureteral disease
database_cross_reference: UMLS_CUI:C0041960
database_cross_reference: MESH:D014518
database_cross_reference: OMIM:191650
database_cross_reference: NCI:C123159
comment: OMIM mapping confirmed by DO. [LS].
id: DOID:4022
database_cross_reference: SNOMEDCT_US_2020_03_01:12818004
has_obo_namespace: disease_ontology
definition: A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder.
in_subset: NCIthesaurus
imported from: doid.owl

angioma serpiginosum
type: Class
subclass of: skin hemangioma
database_cross_reference: UMLS_CUI:C0263637
database_cross_reference: OMIM:300652
database_cross_reference: ICD10CM:L81.7
database_cross_reference: SNOMEDCT_US_2020_03_01:49465005
database_cross_reference: OMIM:106050
definition: A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin.
has_exact_synonym: Angioma serpiginosum of skin
database_cross_reference: NCI:C3926
database_cross_reference: ORDO:95429
has_obo_namespace: disease_ontology
comment: Xref MGI.
id: DOID:4028
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

gastritis
type: Class
subclass of: stomach disease
database_cross_reference: MESH:D005756
has_alternative_id: DOID:4032
has_alternative_id: DOID:8697
has_alternative_id: DOID:8845
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0017152
id: DOID:4029
database_cross_reference: SNOMEDCT_US_2020_03_01:155711008
has_alternative_id: DOID:9190
definition: A stomach disease that is an inflammation of the lining of the stomach.
has_exact_synonym: Erosive Gastritis
has_exact_synonym: Erosive gastropathy
database_cross_reference: NCI:C26780
database_cross_reference: ICD10CM:K29.7
has_exact_synonym: acute gastric mucosal erosion
in_subset: NCIthesaurus
imported from: doid.owl

mouth disease
type: Class
subclass of: gastrointestinal system disease
id: DOID:403
database_cross_reference: NCI:C27641
database_cross_reference: MESH:D009059
definition: A gastrointestinal system disease that is located_in the mouth.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0026636
database_cross_reference: SNOMEDCT_US_2020_03_01:118938008
in_subset: NCIthesaurus
imported from: doid.owl

eosinophilic gastroenteritis
type: Class
subclass of: gastroenteritis
id: DOID:4031
database_cross_reference: NCI:C35330
has_obo_namespace: disease_ontology
has_exact_synonym: Eosinophilic Gastroenteritis
has_exact_synonym: Eosinophilic gastroenteritis
database_cross_reference: SNOMEDCT_US_2020_03_01:359804008
database_cross_reference: ICD9CM:558.41
database_cross_reference: UMLS_CUI:C1262481
in_subset: NCIthesaurus
imported from: doid.owl

lymphocytic gastritis
type: Class
subclass of: gastritis
database_cross_reference: SNOMEDCT_US_2020_03_01:235658000
database_cross_reference: UMLS_CUI:C1283271
database_cross_reference: NCI:C27051
has_obo_namespace: disease_ontology
id: DOID:4035
in_subset: NCIthesaurus
imported from: doid.owl

gastrointestinal tuberculosis
type: Class
subclass of: abdominal tuberculosis
id: DOID:404
database_cross_reference: SNOMEDCT_US_2020_03_01:154286002
has_obo_namespace: disease_ontology
has_alternative_id: DOID:9802
definition: An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting.
database_cross_reference: MESH:D014385
has_exact_synonym: Tuberculosis of gastrointestinal tract
has_exact_synonym: Tuberculosis of intestines, peritoneum and mesenteric glands
has_exact_synonym: Tuberculosis of intestines, peritoneum, and mesenteric glands
database_cross_reference: UMLS_CUI:C0041312
has_exact_synonym: tuberculosis of intestines, peritoneum and mesenteric glands
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

skeletal muscle cancer
type: Class
subclass of: muscle cancer
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6516
database_cross_reference: UMLS_CUI:C1334619
id: DOID:4043
has_exact_synonym: malignant tumor of Skeletal Muscle
in_subset: NCIthesaurus
imported from: doid.owl

skeletal muscle neoplasm
type: Class
subclass of: muscle benign neoplasm
id: DOID:4044
database_cross_reference: UMLS_CUI:C1335971
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6514
database_cross_reference: SNOMEDCT_US_2020_03_01:699955004
has_exact_synonym: tumor of Skeletal Muscle
in_subset: NCIthesaurus
imported from: doid.owl

muscle cancer
type: Class
subclass of: musculoskeletal system cancer
subclass of: muscular disease
database_cross_reference: SNOMEDCT_US_2020_03_01:20667008
id: DOID:4045
has_alternative_id: DOID:4046
database_cross_reference: MESH:D009217
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0684743
database_cross_reference: NCI:C4883
database_cross_reference: MESH:D019042
database_cross_reference: UMLS_CUI:C0027095
database_cross_reference: SNOMEDCT_US_2020_03_01:93913006
definition: A musculoskeletal system cancer that is located_in muscle.
database_cross_reference: ICD10CM:C49
has_exact_synonym: malignant neoplasm of muscle
has_exact_synonym: malignant tumor of muscle
has_exact_synonym: malignant tumor of the Muscle
has_exact_synonym: myosarcoma
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

alveolar rhabdomyosarcoma
type: Class
subclass of: rhabdomyosarcoma
id: DOID:4051
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:268220
has_alternative_id: DOID:4382
has_exact_synonym: Alveolar rhabdomyosarcoma
database_cross_reference: SNOMEDCT_US_2020_03_01:404053004
database_cross_reference: GARD:4701
database_cross_reference: UMLS_CUI:C0279613
database_cross_reference: NCI:C3749
database_cross_reference: UMLS_CUI:C0206655
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7958
database_cross_reference: MESH:D018232
has_exact_synonym: alveolar childhood rhabdomyosarcoma
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

prostate sarcoma
type: Class
subclass of: prostate cancer
subclass of: sarcoma
has_obo_namespace: disease_ontology
definition: A prostate cancer that is located_in the prostate.
database_cross_reference: NCI:C7731
database_cross_reference: UMLS_CUI:C0238393
id: DOID:4054
has_exact_synonym: sarcoma of the prostate
in_subset: NCIthesaurus
imported from: doid.owl

ectomesenchymoma
type: Class
subclass of: central nervous system mesenchymal non-meningothelial tumor
id: DOID:4055
database_cross_reference: NCI:C4716
database_cross_reference: UMLS_CUI:C0431111
has_exact_synonym: Rhabdomyosarcoma with ganglionic differentiation
database_cross_reference: SNOMEDCT_US_2020_03_01:128750008
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

duodenogastric reflux
type: Class
subclass of: duodenum disease
has_obo_namespace: disease_ontology
id: DOID:4071
has_exact_synonym: Duodenogastric reflux
database_cross_reference: MESH:D004383
database_cross_reference: SNOMEDCT_US_2020_03_01:9733003
database_cross_reference: UMLS_CUI:C0013299
imported from: doid.owl

duodenum disease
type: Class
subclass of: intestinal disease
id: DOID:4072
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004378
database_cross_reference: UMLS_CUI:C0013289
database_cross_reference: SNOMEDCT_US_2020_03_01:196598004
has_exact_synonym: duodenal disease
has_exact_synonym: duodenum disorder
imported from: doid.owl

pancreatic cystadenocarcinoma
type: Class
subclass of: pancreatic adenocarcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:235966007
database_cross_reference: UMLS_CUI:C0238337
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3874
id: DOID:4073
has_exact_synonym: cystadenocarcinoma of pancreas
in_subset: NCIthesaurus
imported from: doid.owl

pancreatic adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: pancreatic carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:700423003
id: DOID:4074
definition: A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
database_cross_reference: NCI:C8294
database_cross_reference: UMLS_CUI:C0281361
has_related_synonym: adenocarcinoma of the pancreas
has_obo_namespace: disease_ontology
has_exact_synonym: pancreas adenocarcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

tricuspid valve stenosis
type: Class
subclass of: tricuspid valve disease
database_cross_reference: NCI:C50783
id: DOID:4078
definition: A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve.
database_cross_reference: SNOMEDCT_US_2020_03_01:49915006
has_exact_synonym: Tricuspid stenosis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0040963
database_cross_reference: MESH:D014264
in_subset: NCIthesaurus
imported from: doid.owl

heart valve disease
type: Class
subclass of: heart disease
database_cross_reference: SNOMEDCT_US_2020_03_01:368009
has_alternative_id: DOID:989
database_cross_reference: MESH:D006349
database_cross_reference: NCI:C45525
id: DOID:4079
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D016127
database_cross_reference: UMLS_CUI:C0018824
definition: A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).
database_cross_reference: SNOMEDCT_US_2020_03_01:398995000
database_cross_reference: UMLS_CUI:C0079485
has_exact_synonym: Valvular heart disease
in_subset: NCIthesaurus
imported from: doid.owl

tricuspid valve insufficiency
type: Class
subclass of: tricuspid valve disease
database_cross_reference: SNOMEDCT_US_2020_03_01:111287006
database_cross_reference: UMLS_CUI:C0040961
database_cross_reference: NCI:C50842
id: DOID:4080
definition: A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal.
database_cross_reference: MESH:D014262
has_exact_synonym: Tricuspid incompetence
has_exact_synonym: Tricuspid regurgitation
has_obo_namespace: disease_ontology
has_exact_synonym: Tricuspid valve regurgitation
in_subset: NCIthesaurus
imported from: doid.owl

trophoblastic neoplasm
type: Class
subclass of: germ cell and embryonal cancer
id: DOID:4085
definition: A germ cell and embryonal cancer that derives_from trophoblastic tissue.
database_cross_reference: UMLS_CUI:C0041182
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3422
database_cross_reference: SNOMEDCT_US_2020_03_01:115234004
database_cross_reference: MESH:D014328
has_exact_synonym: Trophoblastic neoplasm
has_exact_synonym: Trophoblastic tumor
in_subset: NCIthesaurus
imported from: doid.owl

liver disease
type: Class
subclass of: hepatobiliary disease
database_cross_reference: ICD9CM:573.9
database_cross_reference: SNOMEDCT_US_2020_03_01:62857009
database_cross_reference: NCI:C3196
id: DOID:409
has_alternative_id: DOID:2164
has_alternative_id: DOID:2165
database_cross_reference: UMLS_CUI:C0023895
database_cross_reference: MESH:D008107
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K76.9
has_alternative_id: DOID:46
has_exact_synonym: disorder of liver
has_exact_synonym: hepatic disorder
in_subset: NCIthesaurus
imported from: doid.owl

agnosia
type: Class
subclass of: communication disorder
has_alternative_id: DOID:4019
id: DOID:4090
definition: A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
database_cross_reference: SNOMEDCT_US_2020_03_01:42341009
database_cross_reference: MESH:D000377
database_cross_reference: GARD:8
has_exact_synonym: Dyspraxia
has_exact_synonym: Dyspraxia syndrome
database_cross_reference: NCI:C84542
database_cross_reference: UMLS_CUI:C0001816
database_cross_reference: ICD10CM:R48.1
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

tick infestation
type: Class
subclass of: parasitic ectoparasitic infectious disease
definition: A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0040196
database_cross_reference: MESH:D013984
id: DOID:4109
imported from: doid.owl

parasitic ectoparasitic infectious disease
type: Class
subclass of: parasitic infectious disease
definition: A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host.
id: DOID:4110
database_cross_reference: MESH:D004478
database_cross_reference: UMLS_CUI:C0013578
has_obo_namespace: disease_ontology
has_exact_synonym: ectoparasitism
imported from: doid.owl

nail disease
type: Class
subclass of: integumentary system disease
database_cross_reference: ICD9CM:703
database_cross_reference: SNOMEDCT_US_2020_03_01:17790008
database_cross_reference: MESH:D009260
definition: An integumentary system disease that is located_in nail.
database_cross_reference: UMLS_CUI:C0027339
database_cross_reference: ICD10CM:L60
id: DOID:4123
has_obo_namespace: disease_ontology
imported from: doid.owl

common bile duct disease
type: Class
subclass of: bile duct disease
database_cross_reference: UMLS_CUI:C0009440
database_cross_reference: MESH:D003137
id: DOID:4137
has_obo_namespace: disease_ontology
imported from: doid.owl

bile duct disease
type: Class
subclass of: biliary tract disease
has_obo_namespace: disease_ontology
id: DOID:4138
database_cross_reference: MESH:D001649
database_cross_reference: UMLS_CUI:C0005395
database_cross_reference: SNOMEDCT_US_2020_03_01:118926004
database_cross_reference: NCI:C96716
has_exact_synonym: bile duct disorder
has_exact_synonym: disorder of bile duct
in_subset: NCIthesaurus
imported from: doid.owl

biliary dyskinesia
type: Class
subclass of: gallbladder disease
database_cross_reference: MESH:D001657
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:43469007
database_cross_reference: UMLS_CUI:C0005416
id: DOID:4140
definition: A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree.
has_alternative_id: DOID:4139
has_exact_synonym: sphincter of oddi dysfunction
imported from: doid.owl

orbital cancer
type: Class
subclass of: bone cancer
subclass of: orbital disease
database_cross_reference: UMLS_CUI:C0153626
database_cross_reference: SNOMEDCT_US_2020_03_01:363462005
database_cross_reference: NCI:C3290
id: DOID:4143
database_cross_reference: ICD9CM:190.1
database_cross_reference: NCI:C3562
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029185
database_cross_reference: ICD10CM:C69.6
definition: A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis.
database_cross_reference: MESH:D009918
has_alternative_id: DOID:9984
database_cross_reference: SNOMEDCT_US_2020_03_01:127003006
has_exact_synonym: malignant neoplasm of orbit
has_exact_synonym: neoplasm of orbit proper
has_exact_synonym: orbit cancer
has_exact_synonym: orbital tumor
in_subset: NCIthesaurus
imported from: doid.owl

dentinogenesis imperfecta
type: Class
subclass of: tooth disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84667
database_cross_reference: GARD:6258
id: DOID:4154
database_cross_reference: MESH:D003811
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:125500
database_cross_reference: ICD10CM:K00.5
database_cross_reference: UMLS_CUI:C0011436
database_cross_reference: OMIM:125490
database_cross_reference: SNOMEDCT_US_2020_03_01:367461002
database_cross_reference: ORDO:49042
in_subset: NCIthesaurus
imported from: doid.owl

primary syphilis
type: Class
subclass of: syphilis
definition: A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes.
id: DOID:4156
database_cross_reference: SNOMEDCT_US_2020_03_01:186846005
database_cross_reference: ICD9CM:091
has_exact_synonym: Symptomatic early syphilis
database_cross_reference: UMLS_CUI:C0153139
has_obo_namespace: disease_ontology
has_exact_synonym: early symptomatic syphilis
has_exact_synonym: early syphilis, symptomatic
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

skin cancer
type: Class
subclass of: integumentary system cancer
subclass of: skin disease
database_cross_reference: SNOMEDCT_US_2020_03_01:94047004
id: DOID:4159
has_obo_namespace: disease_ontology
has_exact_synonym: CA - skin cancer
database_cross_reference: NCI:C2920
database_cross_reference: UMLS_CUI:C0007114
definition: An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
database_cross_reference: MESH:D012878
database_cross_reference: GARD:10421
has_related_synonym: cancer of skin
has_exact_synonym: malignant neoplasm of skin
has_exact_synonym: melanoma and Non-melanoma skin cancer
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

differentiating neuroblastoma
type: Class
subclass of: neuroblastoma
database_cross_reference: UMLS_CUI:C1511934
id: DOID:4160
database_cross_reference: NCI:C42048
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

ganglioneuroblastoma
type: Class
subclass of: neuroblastoma
database_cross_reference: MESH:D018305
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0206718
id: DOID:4163
has_exact_synonym: Ganglioneuroblastoma
database_cross_reference: NCI:C3790
database_cross_reference: SNOMEDCT_US_2020_03_01:116381000119105
in_subset: NCIthesaurus
imported from: doid.owl

syphilis
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: MESH:D002601
has_alternative_id: DOID:11095
database_cross_reference: SNOMEDCT_US_2020_03_01:736686006
definition: A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A51.0
database_cross_reference: UMLS_CUI:C0007939
id: DOID:4166
has_exact_synonym: syphilitic chancre
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

autoimmune disease
type: Class
subclass of: primary immunodeficiency disease
database_cross_reference: ICD9CM:720
definition: An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.
has_obo_namespace: disease_ontology
comment: Xref MGI.
database_cross_reference: OMIM:109100
id: DOID:417
IEDB alternative term: autoimmune disease
database_cross_reference: UMLS_CUI:C0003089
has_exact_synonym: autoimmune hypersensitivity disease
has_exact_synonym: hypersensitivity reaction type II disease
imported from: doid.owl

Rh isoimmunization
type: Class
subclass of: blood group incompatibility
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:199580004
database_cross_reference: NCI:C113150
id: DOID:4175
has_exact_synonym: Rh incompatibility affecting management of mother
database_cross_reference: UMLS_CUI:C0035404
database_cross_reference: MESH:D012203
in_subset: NCIthesaurus
imported from: doid.owl

blood group incompatibility
type: Class
subclass of: hematopoietic system disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0005806
database_cross_reference: MESH:D001787
id: DOID:4176
imported from: doid.owl

systemic scleroderma
type: Class
subclass of: scleroderma
database_cross_reference: MESH:D012595
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:710.1
definition: A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
database_cross_reference: NCI:C72070
database_cross_reference: UMLS_CUI:C0036421
database_cross_reference: GARD:9748
id: DOID:418
database_cross_reference: ICD10CM:M34.0
database_cross_reference: SNOMEDCT_US_2020_03_01:89155008
database_cross_reference: EFO:0000717
database_cross_reference: OMIM:181750
has_exact_synonym: Scleroderma
has_exact_synonym: Scleroderma syndrome
has_exact_synonym: progressive systemic sclerosis
has_exact_synonym: systemic sclerosis
in_subset: NCIthesaurus
imported from: doid.owl

pseudopseudohypoparathyroidism
type: Class
subclass of: pseudohypoparathyroidism
id: DOID:4183
database_cross_reference: GARD:7860
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:612463
database_cross_reference: NCI:C129722
database_cross_reference: UMLS_CUI:C0033835
database_cross_reference: MESH:D011556
has_obo_namespace: disease_ontology
has_exact_synonym: Normocalcemic pseudohypoparathyroidism
has_exact_synonym: Pseudopseudohypoparathyroidism
database_cross_reference: SNOMEDCT_US_2020_03_01:190867002
in_subset: NCIthesaurus
imported from: doid.owl

pseudohypoparathyroidism
type: Class
subclass of: metal metabolism disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:190867002
database_cross_reference: OMIM:612462
database_cross_reference: GARD:10758
id: DOID:4184
database_cross_reference: ICD10CM:E20.1
database_cross_reference: NCI:C99027
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D011547
database_cross_reference: UMLS_CUI:C0033806
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

articulation disorder
type: Class
subclass of: speech disorder
database_cross_reference: MESH:D001184
definition: A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand.
has_exact_synonym: Articulation impairment
database_cross_reference: UMLS_CUI:C0003910
has_obo_namespace: disease_ontology
id: DOID:4186
has_exact_synonym: Phonological disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:8187005
imported from: doid.owl

mutism
type: Class
subclass of: speech disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:267771000
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D009155
id: DOID:4189
definition: A speech disorder that involves a complete inability to speak.
database_cross_reference: UMLS_CUI:C0026884
imported from: doid.owl

scleroderma
type: Class
subclass of: rheumatic disease
definition: A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
id: DOID:419
database_cross_reference: SNOMEDCT_US_2020_03_01:201440007
database_cross_reference: MESH:D012594
database_cross_reference: UMLS_CUI:C0011644
database_cross_reference: NCI:C26746
has_exact_synonym: dermatosclerosis
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

intracranial thrombosis
type: Class
subclass of: thrombosis
subclass of: cerebrovascular disease
has_alternative_id: DOID:12751
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020767
database_cross_reference: UMLS_CUI:C0752143
database_cross_reference: ICD9CM:434.0
database_cross_reference: SNOMEDCT_US_2020_03_01:155401002
database_cross_reference: UMLS_CUI:C0079102
id: DOID:4193
has_exact_synonym: cerebral thrombosis
imported from: doid.owl

glucose metabolism disease
type: Class
subclass of: carbohydrate metabolism disease
database_cross_reference: SNOMEDCT_US_2020_03_01:126877002
id: DOID:4194
database_cross_reference: MESH:D044882
database_cross_reference: UMLS_CUI:C1257958
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C53655
has_exact_synonym: disorder of glucose metabolism
in_subset: NCIthesaurus
imported from: doid.owl

hyperglycemia
type: Class
subclass of: glucose metabolism disease
database_cross_reference: MESH:D006943
id: DOID:4195
database_cross_reference: NCI:C26797
database_cross_reference: SNOMEDCT_US_2020_03_01:144187006
database_cross_reference: ICD10CM:R73.9
database_cross_reference: UMLS_CUI:C0020456
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

hypertrichosis
type: Class
subclass of: hair disease
database_cross_reference: ICD10CM:L68
has_obo_namespace: disease_ontology
id: DOID:420
database_cross_reference: SNOMEDCT_US_2020_03_01:201164001
database_cross_reference: ORDO:79365
database_cross_reference: NCI:C79597
database_cross_reference: MESH:D006983
definition: A hair disease characterized by hair growth that is abnormal in quantity or location.
database_cross_reference: UMLS_CUI:C0020555
in_subset: NCIthesaurus
imported from: doid.owl

peroneal neuropathy
type: Class
subclass of: mononeuropathy
database_cross_reference: NCI:C27596
id: DOID:4201
database_cross_reference: UMLS_CUI:C0747533
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020427
has_exact_synonym: Peroneal Neuropathy
in_subset: NCIthesaurus
imported from: doid.owl

brain stem glioma
type: Class
subclass of: malignant glioma
subclass of: brain stem cancer
has_exact_synonym: Brainstem Neuroglial tumor
database_cross_reference: SNOMEDCT_US_2020_03_01:444545003
definition: A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells.
database_cross_reference: UMLS_CUI:C0677865
database_cross_reference: NCI:C8501
id: DOID:4202
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

brain stem cancer
type: Class
subclass of: infratentorial cancer
has_alternative_id: DOID:13974
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0751886
database_cross_reference: UMLS_CUI:C0153641
database_cross_reference: SNOMEDCT_US_2020_03_01:93726004
database_cross_reference: UMLS_CUI:C0677866
database_cross_reference: UMLS_CUI:C1332192
id: DOID:4203
database_cross_reference: NCI:C4975
database_cross_reference: ICD10CM:C71.7
database_cross_reference: GARD:8244
database_cross_reference: SNOMEDCT_US_2020_03_01:126961004
database_cross_reference: NCI:C5967
has_alternative_id: DOID:4208
has_alternative_id: DOID:4204
database_cross_reference: NCI:C3570
database_cross_reference: MESH:D020295
database_cross_reference: ICD9CM:191.7
database_cross_reference: NCI:C4869
has_exact_synonym: malignant neoplasm of brain stem
has_exact_synonym: malignant neoplasm of brainstem
has_exact_synonym: neoplasm of adult brain stem
has_exact_synonym: neoplasm of brain stem
has_exact_synonym: primary brain Stem tumor
has_exact_synonym: primary brain stem neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

cerebellum cancer
type: Class
subclass of: cerebellar disease
subclass of: infratentorial cancer
database_cross_reference: ICD9CM:191.6
database_cross_reference: ICD10CM:C71.6
id: DOID:4205
database_cross_reference: NCI:C3569
database_cross_reference: MESH:D002528
database_cross_reference: SNOMEDCT_US_2020_03_01:126960003
database_cross_reference: SNOMEDCT_US_2020_03_01:449420002
database_cross_reference: NCI:C2935
has_alternative_id: DOID:12786
has_exact_synonym: cerebellar cancer
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0007762
database_cross_reference: UMLS_CUI:C0153640
has_exact_synonym: malignant tumor of Cerebellum
in_subset: NCIthesaurus
imported from: doid.owl

hair disease
type: Class
subclass of: integumentary system disease
definition: An integumentary system disease that is located_in hair.
id: DOID:421
database_cross_reference: NCI:C34656
database_cross_reference: MESH:D006201
database_cross_reference: SNOMEDCT_US_2020_03_01:267862002
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0018500
in_subset: NCIthesaurus
imported from: doid.owl

malignant ovarian Brenner tumor
type: Class
subclass of: malignant ovarian surface epithelial-stromal neoplasm
database_cross_reference: MESH:D001948
database_cross_reference: UMLS_CUI:C0334495
definition: A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary.
database_cross_reference: SNOMEDCT_US_2020_03_01:42194009
database_cross_reference: NCI:C4270
id: DOID:4217
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

congenital structural myopathy
type: Class
subclass of: physical disorder
subclass of: myopathy
database_cross_reference: UMLS_CUI:C0752282
database_cross_reference: MESH:D020914
has_obo_namespace: disease_ontology
id: DOID:422
database_cross_reference: NCI:C84648
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

pyoderma
type: Class
subclass of: dermatitis
database_cross_reference: ICD9CM:686.0
database_cross_reference: UMLS_CUI:C0034212
database_cross_reference: SNOMEDCT_US_2020_03_01:267838007
database_cross_reference: ICD10CM:L08.0
database_cross_reference: MESH:D011711
has_obo_namespace: disease_ontology
id: DOID:4223
definition: A dermatitis that is characterized by a pyogenic infection causing the formation of pus.
imported from: doid.owl

endometrial stromal sarcoma
type: Class
subclass of: endometrial stromal tumor
definition: An endometrial stromal tumor that has_material_basis in connective tissue.
database_cross_reference: MESH:D018203
database_cross_reference: UMLS_CUI:C0206630
has_obo_namespace: disease_ontology
id: DOID:4226
has_exact_synonym: ESS
database_cross_reference: GARD:6339
database_cross_reference: NCI:C8973
database_cross_reference: SNOMEDCT_US_2020_03_01:70555003
has_exact_synonym: Undifferentiated endometrial sarcoma
has_exact_synonym: endometrial stromal sarcoma, high grade
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

myopathy
type: Class
subclass of: muscle tissue disease
database_cross_reference: NCI:C101216
database_cross_reference: ICD10CM:G72.9
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:359.9
database_cross_reference: SNOMEDCT_US_2020_03_01:155094005
definition: A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
database_cross_reference: UMLS_CUI:C0026848
id: DOID:423
database_cross_reference: MESH:D009135
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

smooth muscle cancer
type: Class
subclass of: muscle cancer
database_cross_reference: UMLS_CUI:C1334620
id: DOID:4230
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6511
has_exact_synonym: malignant tumor of Smooth Muscle
in_subset: NCIthesaurus
imported from: doid.owl

histiocytoma
type: Class
subclass of: connective tissue benign neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D051642
database_cross_reference: NCI:C35765
id: DOID:4231
database_cross_reference: UMLS_CUI:C1509147
database_cross_reference: SNOMEDCT_US_2020_03_01:154614002
in_subset: NCIthesaurus
imported from: doid.owl

extraosseous Ewing sarcoma
type: Class
subclass of: Ewing sarcoma
definition: A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations.
has_obo_namespace: disease_ontology
id: DOID:4232
database_cross_reference: ORDO:370334
database_cross_reference: NCI:C27293
database_cross_reference: UMLS_CUI:C1333514
has_exact_synonym: extraosseous Ewing's sarcoma
has_exact_synonym: extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor
has_exact_synonym: extraskeletal Ewing sarcom
in_subset: NCIthesaurus
imported from: doid.owl

clear cell sarcoma
type: Class
subclass of: sarcoma
database_cross_reference: NCI:C27370
database_cross_reference: MESH:D018227
database_cross_reference: UMLS_CUI:C0206651
database_cross_reference: UMLS_CUI:C1332198
definition: A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated.
has_exact_synonym: Clear cell sarcoma
database_cross_reference: NCI:C3745
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:12622007
has_exact_synonym: Clear cell sarcoma of soft Parts
id: DOID:4233
has_alternative_id: DOID:4881
has_exact_synonym: adult soft part clear cell sarcoma
has_related_synonym: malignant melanoma of soft parts
has_exact_synonym: malignant melanoma of soft tissues
has_exact_synonym: melanoma, malignant, of soft parts
in_subset: NCIthesaurus
imported from: doid.owl

spindle cell sarcoma
type: Class
subclass of: sarcoma
database_cross_reference: UMLS_CUI:C0205945
definition: A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy.
id: DOID:4235
database_cross_reference: NCI:C27005
database_cross_reference: MESH:D012509
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:9801004
in_subset: NCIthesaurus
imported from: doid.owl

carcinosarcoma
type: Class
subclass of: mixed cell type cancer
database_cross_reference: UMLS_CUI:C1334603
database_cross_reference: MESH:D018199
database_cross_reference: NCI:C8975
has_alternative_id: DOID:1971
definition: A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
database_cross_reference: MESH:D002296
database_cross_reference: NCI:C3730
database_cross_reference: SNOMEDCT_US_2020_03_01:112684005
database_cross_reference: MESH:D018200
has_alternative_id: DOID:2610
database_cross_reference: SNOMEDCT_US_2020_03_01:84427001
has_obo_namespace: disease_ontology
id: DOID:4236
has_alternative_id: DOID:4234
has_exact_synonym: MMMT
has_exact_synonym: Mesodermal mixed tumor
database_cross_reference: SNOMEDCT_US_2020_03_01:63264007
database_cross_reference: NCI:C34448
database_cross_reference: UMLS_CUI:C0206627
database_cross_reference: UMLS_CUI:C0007140
has_exact_synonym: malignant mixed Mullerian tumor
has_exact_synonym: malignant mixed mesodermal (mullerian) tumor
has_exact_synonym: mesodermal mixed tumor
has_exact_synonym: mixed Mesodermal (mullerian) tumor
has_exact_synonym: mullerian mixed tumor
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

alveolar soft part sarcoma
type: Class
subclass of: skeletal muscle cancer
database_cross_reference: UMLS_CUI:C0206657
database_cross_reference: NCI:C3750
database_cross_reference: GARD:5654
database_cross_reference: UMLS_CUI:C0279985
database_cross_reference: UMLS_CUI:C0279544
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Alveolar Soft Part sarcoma
database_cross_reference: ORDO:163699
database_cross_reference: NCI:C8092
database_cross_reference: OMIM:606243
database_cross_reference: SNOMEDCT_US_2020_03_01:88195001
database_cross_reference: MESH:D018234
has_obo_namespace: disease_ontology
id: DOID:4239
has_alternative_id: DOID:5315
database_cross_reference: NCI:C7943
has_alternative_id: DOID:5318
definition: A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary immaturity
type: Class
subclass of: lung disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:P28.0
database_cross_reference: UMLS_CUI:C0270163
definition: A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio.
id: DOID:424
database_cross_reference: ICD9CM:770.4
database_cross_reference: SNOMEDCT_US_2020_03_01:42908004
has_exact_synonym: primary atelectasis of newborn
has_exact_synonym: primary atelectasis, in perinatal period
imported from: doid.owl

kidney sarcoma
type: Class
subclass of: kidney cancer
database_cross_reference: UMLS_CUI:C0346251
database_cross_reference: NCI:C4525
has_obo_namespace: disease_ontology
id: DOID:4242
definition: A kidney cancer that is located in the kidney's connective tissue.
database_cross_reference: SNOMEDCT_US_2020_03_01:254918001
has_exact_synonym: renal sarcoma
has_exact_synonym: sarcoma of kidney
in_subset: NCIthesaurus
imported from: doid.owl

coronary restenosis
type: Class
subclass of: coronary stenosis
database_cross_reference: UMLS_CUI:C0948480
has_obo_namespace: disease_ontology
id: DOID:4247
database_cross_reference: MESH:D023903
imported from: doid.owl

coronary stenosis
type: Class
subclass of: coronary artery disease
has_exact_synonym: Coronary artery stenosis
id: DOID:4248
database_cross_reference: SNOMEDCT_US_2020_03_01:233970002
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C80427
database_cross_reference: MESH:D023921
database_cross_reference: UMLS_CUI:C0242231
in_subset: NCIthesaurus
imported from: doid.owl

Gerstmann-Straussler-Scheinker syndrome
type: Class
subclass of: prion disease
database_cross_reference: GARD:7690
database_cross_reference: ICD10CM:A81.82
database_cross_reference: UMLS_CUI:C0017495
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:137440
has_exact_synonym: Gerstmann-Straussler-Scheinker disease
database_cross_reference: NCI:C84727
database_cross_reference: SNOMEDCT_US_2020_03_01:67155006
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D016098
database_cross_reference: ICD9CM:046.71
id: DOID:4249
definition: A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
has_exact_synonym: PRION DEMENTIA
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

conjunctivochalasis
type: Class
subclass of: conjunctival disease
database_cross_reference: ICD10CM:H11.82
database_cross_reference: SNOMEDCT_US_2020_03_01:408663001
database_cross_reference: ICD9CM:372.81
database_cross_reference: UMLS_CUI:C0878693
id: DOID:4250
has_obo_namespace: disease_ontology
imported from: doid.owl

conjunctival disease
type: Class
subclass of: eye disease
database_cross_reference: UMLS_CUI:C0009759
database_cross_reference: ICD10CM:H11.9
database_cross_reference: MESH:D003229
has_obo_namespace: disease_ontology
definition: An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.
database_cross_reference: NCI:C27605
id: DOID:4251
database_cross_reference: ICD9CM:372.9
database_cross_reference: SNOMEDCT_US_2020_03_01:194583004
in_subset: NCIthesaurus
imported from: doid.owl

Alexander disease
type: Class
subclass of: autosomal dominant disease
subclass of: leukodystrophy
database_cross_reference: MESH:D038261
database_cross_reference: NCI:C84545
database_cross_reference: GARD:5774
id: DOID:4252
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:81854007
database_cross_reference: UMLS_CUI:C0270726
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:203450
definition: A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.
has_exact_synonym: Alexander's disease
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

melorheostosis
type: Class
subclass of: osteosclerosis
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:155950
database_cross_reference: SNOMEDCT_US_2020_03_01:240173003
database_cross_reference: MESH:D008557
id: DOID:4253
database_cross_reference: UMLS_CUI:C0025239
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:9474
definition: An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
database_cross_reference: NCI:C84887
in_subset: NCIthesaurus
imported from: doid.owl

osteosclerosis
type: Class
subclass of: bone remodeling disease
database_cross_reference: UMLS_CUI:C0029464
database_cross_reference: MESH:D010026
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C41236
definition: A bone remodeling disease that results_in abnormal elevated bone density or mass.
database_cross_reference: SNOMEDCT_US_2020_03_01:49347007
id: DOID:4254
database_cross_reference: ICD10CM:Q78.2
in_subset: NCIthesaurus
imported from: doid.owl

Caffey disease
type: Class
subclass of: bone inflammation disease
database_cross_reference: OMIM:114000
database_cross_reference: ICD10CM:M89.8
id: DOID:4257
database_cross_reference: MESH:D006958
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0020497
definition: A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.
database_cross_reference: SNOMEDCT_US_2020_03_01:24752008
database_cross_reference: NCI:C84645
database_cross_reference: GARD:1051
has_exact_synonym: cortical congenital hyperostosis
has_obo_namespace: disease_ontology
has_exact_synonym: infantile cortical hyperostosis
in_subset: NCIthesaurus
imported from: doid.owl

gait apraxia
type: Class
subclass of: apraxia
id: DOID:4260
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1510417
database_cross_reference: SNOMEDCT_US_2020_03_01:30767006
database_cross_reference: MESH:D020235
imported from: doid.owl

akinetic mutism
type: Class
subclass of: brain disease
database_cross_reference: SNOMEDCT_US_2020_03_01:53333005
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000405
definition: A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.
has_exact_synonym: Coma vigilans
id: DOID:4267
database_cross_reference: UMLS_CUI:C0001889
imported from: doid.owl

encephalitozoonosis
type: Class
subclass of: microsporidiosis
definition: A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem.
id: DOID:4270
database_cross_reference: UMLS_CUI:C0085412
database_cross_reference: SNOMEDCT_US_2020_03_01:12825006
has_exact_synonym: Infection by Encephalitozoon
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D016890
in_subset: zoonotic infectious disease
imported from: doid.owl

microsporidiosis
type: Class
subclass of: opportunistic mycosis
database_cross_reference: MESH:D016881
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:61842000
database_cross_reference: NCI:C84891
database_cross_reference: ICD10CM:B60.8
id: DOID:4271
definition: An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.
database_cross_reference: UMLS_CUI:C0085407
database_cross_reference: GARD:3655
has_exact_synonym: Infection by Microspora
has_exact_synonym: Infection by Microsporea
has_exact_synonym: Infection by Microsporida
in_subset: NCIthesaurus
imported from: doid.owl

nodular basal cell carcinoma
type: Class
subclass of: basal cell carcinoma
has_exact_synonym: Circumscribed solid basal cell carcinoma
id: DOID:4280
has_alternative_id: DOID:4296
database_cross_reference: UMLS_CUI:C1304300
database_cross_reference: SNOMEDCT_US_2020_03_01:716274007
database_cross_reference: NCI:C62282
definition: A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.
has_exact_synonym: Basal cell carcinoma, nodular
has_obo_namespace: disease_ontology
has_exact_synonym: skin nodulo-ulcerative basal cell carcinoma
has_exact_synonym: skin solid (nodular) Basal cell carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

external ear carcinoma
type: Class
subclass of: carcinoma
subclass of: external ear cancer
database_cross_reference: NCI:C6081
definition: An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
id: DOID:4288
database_cross_reference: UMLS_CUI:C1333492
has_exact_synonym: carcinoma of the External ear
has_obo_namespace: disease_ontology
has_related_synonym: carcinoma of external ear
in_subset: NCIthesaurus
imported from: doid.owl

scimitar syndrome
type: Class
subclass of: congenital heart disease
has_exact_synonym: mirror-image lung syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: Halasz syndrome
database_cross_reference: ORDO:185
id: DOID:4297
database_cross_reference: ICD10CM:Q26.8
database_cross_reference: SNOMEDCT_US_2020_03_01:39905002
has_exact_synonym: vena cava bronchovascular syndrome
database_cross_reference: OMIM:106700
database_cross_reference: NCI:C85056
definition: A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung.
database_cross_reference: MESH:D012587
has_exact_synonym: congenital venolobar syndrome
has_exact_synonym: hypogenetic lung syndrome
database_cross_reference: UMLS_CUI:C0036400
has_exact_synonym: pulmonary venolobar syndrome
has_exact_synonym: total anomalous pulmonary venous return
in_subset: NCIthesaurus
imported from: doid.owl

bone giant cell tumor
type: Class
subclass of: benign giant cell tumor
database_cross_reference: MESH:D018212
id: DOID:4305
has_exact_synonym: Giant cell neoplasm of bone
has_exact_synonym: Giant cell tumor of bone
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:697970009
database_cross_reference: NCI:C121932
database_cross_reference: UMLS_CUI:C0206638
definition: A benign giant cell tumor that results_in the presence of multinucleated giant cells.
has_exact_synonym: Giant cell tumour of bone
has_exact_synonym: bone giant cell tumour
has_related_synonym: giant cell myeloma
has_related_synonym: osteoclastoma
in_subset: NCIthesaurus
imported from: doid.owl

radiculopathy
type: Class
subclass of: peripheral nervous system disease
has_exact_synonym: pinched nerve
database_cross_reference: MESH:D011843
database_cross_reference: ICD10CM:M54.1
id: DOID:4306
has_obo_namespace: disease_ontology
definition: A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling.
database_cross_reference: SNOMEDCT_US_2020_03_01:394640000
database_cross_reference: UMLS_CUI:C0700594
imported from: doid.owl

myofascial pain syndrome
type: Class
subclass of: myopathy
database_cross_reference: UMLS_CUI:C0027073
id: DOID:431
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D009209
imported from: doid.owl

smooth muscle tumor
type: Class
subclass of: muscle benign neoplasm
database_cross_reference: NCI:C3751
database_cross_reference: UMLS_CUI:C0206658
id: DOID:4310
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018235
database_cross_reference: SNOMEDCT_US_2020_03_01:75109009
in_subset: NCIthesaurus
imported from: doid.owl

epidermolysis bullosa acquisita
type: Class
subclass of: autoimmune disease of skin and connective tissue
subclass of: epidermolysis bullosa
database_cross_reference: MESH:D016107
database_cross_reference: UMLS_CUI:C0079293
definition: An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L12.3
id: DOID:4313
database_cross_reference: NCI:C84690
database_cross_reference: SNOMEDCT_US_2020_03_01:2772003
has_exact_synonym: acquired epidermolysis bullosa
in_subset: NCIthesaurus
imported from: doid.owl

epidermolytic acanthoma
type: Class
subclass of: acanthoma
database_cross_reference: SNOMEDCT_US_2020_03_01:733892008
id: DOID:4323
database_cross_reference: UMLS_CUI:C1333414
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C27516
in_subset: NCIthesaurus
imported from: doid.owl

Ebola hemorrhagic fever
type: Class
subclass of: viral infectious disease
database_cross_reference: GARD:2035
database_cross_reference: NCI:C36171
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.
has_exact_synonym: Ebola virus disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A98.4
database_cross_reference: MESH:D019142
id: DOID:4325
database_cross_reference: SNOMEDCT_US_2020_03_01:123323003
database_cross_reference: UMLS_CUI:C0282687
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

Marburg hemorrhagic fever
type: Class
subclass of: viral infectious disease
database_cross_reference: UMLS_CUI:C0024788
database_cross_reference: ICD10CM:A98.3
database_cross_reference: GARD:9444
database_cross_reference: NCI:C84883
has_obo_namespace: disease_ontology
id: DOID:4327
database_cross_reference: MESH:D008379
has_exact_synonym: Marburg disease
database_cross_reference: SNOMEDCT_US_2020_03_01:123322008
definition: A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding.
has_exact_synonym: Marburg virus disease
in_subset: NCIthesaurus
imported from: doid.owl

non-Langerhans-cell histiocytosis
type: Class
subclass of: histiocytosis
database_cross_reference: MESH:D015616
database_cross_reference: GARD:8231
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0019624
database_cross_reference: SNOMEDCT_US_2020_03_01:127069007
id: DOID:4330
imported from: doid.owl

parovarian cyst
type: Class
subclass of: female reproductive system disease
has_obo_namespace: disease_ontology
id: DOID:4333
database_cross_reference: SNOMEDCT_US_2020_03_01:204831002
definition: A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary.
has_exact_synonym: Cyst, fimbrial
has_exact_synonym: Embryonic fimbrial cyst
database_cross_reference: ICD10CM:Q50.5
database_cross_reference: MESH:D010310
database_cross_reference: UMLS_CUI:C0030584
imported from: doid.owl

tinea favosa
type: Class
subclass of: skin disease
subclass of: nail disease
subclass of: tinea capitis
database_cross_reference: NCI:C35072
database_cross_reference: MESH:D014007
has_alternative_id: DOID:0050109
definition: A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring.
id: DOID:4336
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0040254
database_cross_reference: ICD10CM:B35
database_cross_reference: SNOMEDCT_US_2020_03_01:85375000
has_exact_synonym: favus
in_subset: NCIthesaurus
imported from: doid.owl

tinea capitis
type: Class
subclass of: hair disease
subclass of: dermatophytosis
definition: A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern.
database_cross_reference: UMLS_CUI:C0011640
id: DOID:4337
database_cross_reference: SNOMEDCT_US_2020_03_01:186985002
has_obo_namespace: disease_ontology
has_alternative_id: DOID:0050114
has_alternative_id: DOID:12319
has_related_synonym: Dermatophytosis of scalp
database_cross_reference: ICD9CM:110.0
database_cross_reference: NCI:C34536
has_exact_synonym: Scalp ringworm
has_exact_synonym: Trichophyton rubrum tinea capitis
has_exact_synonym: dermatophytosis of scalp or beard
has_exact_synonym: tinea capitis due to Trichophyton rubrum
in_subset: NCIthesaurus
imported from: doid.owl

variegate porphyria
type: Class
subclass of: acute porphyria
database_cross_reference: NCI:C85219
database_cross_reference: GARD:7848
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0162532
database_cross_reference: SNOMEDCT_US_2020_03_01:58275005
database_cross_reference: OMIM:176200
database_cross_reference: MESH:D046350
id: DOID:4346
has_exact_synonym: Protocoproporphyria
has_exact_synonym: Protoporphyrinogen oxidase deficiency
has_exact_synonym: Variegate porphyria
in_subset: NCIthesaurus
imported from: doid.owl

lymphocele
type: Class
subclass of: lymphatic system disease
database_cross_reference: MESH:D008210
database_cross_reference: SNOMEDCT_US_2020_03_01:234109007
database_cross_reference: UMLS_CUI:C0024248
id: DOID:4347
has_exact_synonym: Lymph cyst
database_cross_reference: NCI:C78442
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

cervical cancer
type: Class
subclass of: cervix disease
subclass of: uterine cancer
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:123841004
database_cross_reference: ICD9CM:180
database_cross_reference: NCI:C2940
id: DOID:4362
database_cross_reference: UMLS_CUI:C0007873
has_alternative_id: DOID:4361
database_cross_reference: SNOMEDCT_US_2020_03_01:254885005
definition: A female reproductive organ cancer that is located_in the cervix.
database_cross_reference: UMLS_CUI:C0007847
database_cross_reference: MESH:D002583
database_cross_reference: ICD10CM:C53
database_cross_reference: OMIM:603956
database_cross_reference: NCI:C9311
has_exact_synonym: cervical neoplasm
has_exact_synonym: cervix cancer
has_exact_synonym: cervix uteri cancer
has_exact_synonym: neoplasm of uterine cervix
has_exact_synonym: tumor of the Cervix Uteri
has_exact_synonym: uterine cervical neoplasm
in_subset: DO cancer slim
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

apparent mineralocorticoid excess syndrome
type: Class
subclass of: steroid inherited metabolic disorder
subclass of: genetic disease
database_cross_reference: UMLS_CUI:C0342488
definition: A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:218030
database_cross_reference: ORDO:320
database_cross_reference: NCI:C123231
database_cross_reference: GARD:433
database_cross_reference: MESH:D043204
has_exact_synonym: 11-beta-hydroxysteroid dehydrogenase deficiency type 2
id: DOID:4367
has_alternative_id: DOID:0090121
database_cross_reference: SNOMEDCT_US_2020_03_01:237770005
has_exact_synonym: Ulick syndrome
has_exact_synonym: cortisol 11-beta-ketoreductase deficiency
has_exact_synonym: syndrome of apparent mineralocorticoid excess
in_subset: NCIthesaurus
imported from: doid.owl

myasthenia gravis
type: Class
subclass of: autoimmune disease of the nervous system
database_cross_reference: OMIM:254200
database_cross_reference: UMLS_CUI:C0026896
has_alternative_id: DOID:444
database_cross_reference: GARD:7122
id: DOID:437
has_alternative_id: DOID:443
database_cross_reference: ICD10CM:G70.0
definition: An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.
database_cross_reference: ICD9CM:358.0
database_cross_reference: MESH:D009157
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:G70.00
database_cross_reference: NCI:C60989
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155092009
database_cross_reference: ICD9CM:358.00
database_cross_reference: UMLS_CUI:C1260409
in_subset: NCIthesaurus
imported from: doid.owl

Schnitzler syndrome
type: Class
subclass of: hypersensitivity reaction type IV disease
id: DOID:4371
database_cross_reference: UMLS_CUI:C0524988
database_cross_reference: MESH:D019873
has_obo_namespace: disease_ontology
definition: A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy.
database_cross_reference: GARD:12390
database_cross_reference: SNOMEDCT_US_2020_03_01:402415001
imported from: doid.owl

intracranial embolism
type: Class
subclass of: cerebrovascular disease
database_cross_reference: ICD10CM:I66
database_cross_reference: MESH:D020766
id: DOID:4372
database_cross_reference: UMLS_CUI:C0752140
has_obo_namespace: disease_ontology
has_alternative_id: DOID:1958
has_alternative_id: DOID:1957
has_exact_synonym: Cerebral embolism with cerebral infarction
database_cross_reference: UMLS_CUI:C0007780
database_cross_reference: SNOMEDCT_US_2020_03_01:75543006
database_cross_reference: ICD9CM:434.1
has_exact_synonym: cerebral embolism
imported from: doid.owl

egg allergy
type: Class
subclass of: food allergy
id: DOID:4377
database_cross_reference: UMLS_CUI:C0559469
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D021181
definition: A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.
database_cross_reference: SNOMEDCT_US_2020_03_01:91930004
has_exact_synonym: Allergy to eggs
in_subset: DO IEDB slim
imported from: doid.owl

peanut allergy
type: Class
subclass of: legume allergy
database_cross_reference: SNOMEDCT_US_2020_03_01:91935009
definition: A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D021183
id: DOID:4378
database_cross_reference: UMLS_CUI:C0559470
has_exact_synonym: allergy to peanuts
has_exact_synonym: peanut allergic reaction
in_subset: DO IEDB slim
imported from: doid.owl

autoimmune disease of the nervous system
type: Class
subclass of: autoimmune disease
subclass of: nervous system disease
database_cross_reference: MESH:D020274
database_cross_reference: UMLS_CUI:C0751871
has_obo_namespace: disease_ontology
definition: An autoimmune disease affecting the nervous system.
id: DOID:438
database_cross_reference: NCI:C99383
has_related_synonym: autoimmune nervous system disorder
in_subset: NCIthesaurus
imported from: doid.owl

myofibroma
type: Class
subclass of: connective tissue benign neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:128917003
database_cross_reference: MESH:D047708
database_cross_reference: UMLS_CUI:C1266121
id: DOID:4386
has_exact_synonym: Lipoleiomyoma
has_exact_synonym: Myofibroma
imported from: doid.owl

neuromuscular junction disease
type: Class
subclass of: neuromuscular disease
database_cross_reference: UMLS_CUI:C0751950
id: DOID:439
database_cross_reference: SNOMEDCT_US_2020_03_01:128213006
database_cross_reference: MESH:D020511
has_obo_namespace: disease_ontology
definition: A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
imported from: doid.owl

pustulosis of palm and sole
type: Class
subclass of: dermatitis
has_exact_synonym: Acropustulosis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:238610005
id: DOID:4398
database_cross_reference: MESH:D011565
has_exact_synonym: Pustular psoriasis of the palms and/or soles
database_cross_reference: UMLS_CUI:C0030246
database_cross_reference: ICD10CM:L40.3
database_cross_reference: NCI:C34888
has_exact_synonym: Palmoplantar Pustulosis
in_subset: NCIthesaurus
imported from: doid.owl

acneiform dermatitis
type: Class
subclass of: dermatitis
id: DOID:4399
database_cross_reference: UMLS_CUI:C0234894
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35277
in_subset: NCIthesaurus
imported from: doid.owl

neuromuscular disease
type: Class
subclass of: musculoskeletal system disease
subclass of: neuropathy
database_cross_reference: MESH:D009468
database_cross_reference: SNOMEDCT_US_2020_03_01:1664005
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027868
definition: A neuropathy that affect the nerves that control the voluntary muscles.
id: DOID:440
database_cross_reference: ICD9CM:358
database_cross_reference: ICD10CM:G70.9
imported from: doid.owl

folliculitis
type: Class
subclass of: dermatitis
subclass of: hair disease
database_cross_reference: MESH:D005499
id: DOID:4409
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C94408
database_cross_reference: SNOMEDCT_US_2020_03_01:156411003
database_cross_reference: UMLS_CUI:C0016436
in_subset: NCIthesaurus
imported from: doid.owl

hepatitis E
type: Class
subclass of: viral infectious disease
database_cross_reference: GARD:9541
id: DOID:4411
has_alternative_id: DOID:12431
definition: A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0085293
database_cross_reference: SNOMEDCT_US_2020_03_01:7111000119109
database_cross_reference: MESH:D016751
in_subset: zoonotic infectious disease
imported from: doid.owl

fibrous histiocytoma
type: Class
subclass of: histiocytoma
database_cross_reference: SNOMEDCT_US_2020_03_01:25889007
id: DOID:4415
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3739
database_cross_reference: MESH:D018219
database_cross_reference: UMLS_CUI:C0206644
has_exact_synonym: Fibroxanthoma
has_exact_synonym: benign fibrous histiocytoma
has_exact_synonym: fibrous Histiocytoma
in_subset: NCIthesaurus
imported from: doid.owl

cutaneous fibrous histiocytoma
type: Class
subclass of: skin benign neoplasm
subclass of: fibrous histiocytoma
database_cross_reference: UMLS_CUI:C0002991
database_cross_reference: GARD:9807
database_cross_reference: MESH:D018219
database_cross_reference: SNOMEDCT_US_2020_03_01:403999006
database_cross_reference: SNOMEDCT_US_2020_03_01:254749001
database_cross_reference: UMLS_CUI:C0346049
id: DOID:4418
has_alternative_id: DOID:4417
has_exact_synonym: Dermatofibroma
has_exact_synonym: Fibrohistiocytic tumor
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6801
database_cross_reference: NCI:C8402
has_exact_synonym: Pleomorphic fibroma
has_exact_synonym: Sclerosing angioma
has_exact_synonym: Sclerosing angioma of skin
has_exact_synonym: benign Cutaneous fibrous Histiocytoma
has_exact_synonym: dermatofibroma
has_exact_synonym: fibrohistiocytic tumor
has_exact_synonym: fibrous histiocytoma of skin
has_exact_synonym: fibrous xanthoma of skin
in_subset: NCIthesaurus
imported from: doid.owl

sea-blue histiocytosis
type: Class
subclass of: sphingolipidosis
database_cross_reference: OMIM:269600
database_cross_reference: UMLS_CUI:C0036489
id: DOID:4423
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:37821003
definition: A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.
database_cross_reference: NCI:C85062
database_cross_reference: MESH:D012618
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Sea-blue histiocyte syndrome
in_subset: NCIthesaurus
imported from: doid.owl

juvenile xanthogranuloma
type: Class
subclass of: non-Langerhans-cell histiocytosis
database_cross_reference: MESH:D014972
has_obo_namespace: disease_ontology
id: DOID:4424
database_cross_reference: UMLS_CUI:C0043324
database_cross_reference: SNOMEDCT_US_2020_03_01:71709009
has_exact_synonym: Multiple eruptive juvenile xanthogranuloma
database_cross_reference: NCI:C3451
has_exact_synonym: Naevoxanthoendothelioma
has_exact_synonym: Xanthoma neviforme
in_subset: NCIthesaurus
imported from: doid.owl

dyslexia
type: Class
subclass of: reading disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:154954003
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0476254
comment: Xref MGI.
definition: A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
id: DOID:4428
database_cross_reference: OMIM:300509
database_cross_reference: OMIM:604254
database_cross_reference: OMIM:608995
database_cross_reference: OMIM:606616
database_cross_reference: OMIM:600202
database_cross_reference: MESH:D004410
database_cross_reference: OMIM:606896
database_cross_reference: ICD10CM:F81.0
database_cross_reference: NCI:C96410
in_subset: NCIthesaurus
imported from: doid.owl

somatostatinoma
type: Class
subclass of: neuroendocrine tumor
has_obo_namespace: disease_ontology
database_cross_reference: GARD:4900
database_cross_reference: NCI:C3379
database_cross_reference: UMLS_CUI:C0037661
database_cross_reference: MESH:D013005
id: DOID:4430
database_cross_reference: SNOMEDCT_US_2020_03_01:128642005
has_exact_synonym: Somatostatin cell neoplasm
has_exact_synonym: Somatostatin cell tumour
in_subset: NCIthesaurus
imported from: doid.owl

skull base meningioma
type: Class
subclass of: skull base cancer
has_obo_namespace: disease_ontology
id: DOID:4437
database_cross_reference: UMLS_CUI:C1335976
database_cross_reference: NCI:C5272
has_exact_synonym: meningioma of the Skull Base
in_subset: NCIthesaurus
imported from: doid.owl

central nervous system germ cell tumor
type: Class
subclass of: germ cell cancer
subclass of: central nervous system cancer
has_obo_namespace: disease_ontology
id: DOID:4439
database_cross_reference: UMLS_CUI:C1332880
database_cross_reference: NCI:C5461
definition: A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells.
has_exact_synonym: central nervous system germ cell tumour
has_exact_synonym: germ cell tumor of the CNS
has_exact_synonym: germ cell tumour of the CNS
in_subset: NCIthesaurus
imported from: doid.owl

seminoma
type: Class
subclass of: germ cell cancer
id: DOID:4440
database_cross_reference: UMLS_CUI:C0036631
definition: A germinoma that has_material_basis_in cells that make sperm and eggs.
database_cross_reference: NCI:C9309
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: MESH:D018239
database_cross_reference: SNOMEDCT_US_2020_03_01:443675005
has_exact_synonym: Seminoma, Pure
in_subset: NCIthesaurus
imported from: doid.owl

dysgerminoma
type: Class
subclass of: ovarian cancer
subclass of: germ cell cancer
database_cross_reference: MESH:D004407
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0013377
database_cross_reference: NCI:C2996
database_cross_reference: SNOMEDCT_US_2020_03_01:60718004
id: DOID:4441
definition: A germ cell cancer that derives_from cells that give rise to egg cells.
in_subset: NCIthesaurus
imported from: doid.owl

cystoid macular edema
type: Class
subclass of: macular retinal edema
database_cross_reference: UMLS_CUI:C0024440
database_cross_reference: NCI:C34794
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:153880
database_cross_reference: MESH:D008269
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:193387007
id: DOID:4447
in_subset: NCIthesaurus
imported from: doid.owl

macular degeneration
type: Class
subclass of: retinal degeneration
database_cross_reference: UMLS_CUI:C0024437
database_cross_reference: NCI:C123330
database_cross_reference: ORDO:279
definition: A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.
database_cross_reference: MESH:D008268
id: DOID:4448
has_exact_synonym: Macular degeneration of retina
has_obo_namespace: disease_ontology
comment: Xref MGI.
database_cross_reference: SNOMEDCT_US_2020_03_01:302891003
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

macular retinal edema
type: Class
subclass of: retinal edema
database_cross_reference: MESH:D008269
database_cross_reference: UMLS_CUI:C0271051
has_obo_namespace: disease_ontology
id: DOID:4449
database_cross_reference: SNOMEDCT_US_2020_03_01:37231002
database_cross_reference: NCI:C35468
has_exact_synonym: macular edema
has_exact_synonym: macular oedema
has_exact_synonym: macular retinal oedema
in_subset: NCIthesaurus
imported from: doid.owl

Bartter disease
type: Class
subclass of: monogenic disease
subclass of: renal tubular transport disease
database_cross_reference: OMIM:PS601678
database_cross_reference: MESH:D001477
database_cross_reference: GARD:5893
has_exact_synonym: Bartter's syndrome
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34412
database_cross_reference: ICD9CM:255.13
id: DOID:445
has_exact_synonym: Aldosteronism with hyperplasia of the adrenal cortex
database_cross_reference: UMLS_CUI:C0004775
database_cross_reference: ICD10CM:E26.81
database_cross_reference: SNOMEDCT_US_2020_03_01:707742001
in_subset: NCIthesaurus
imported from: doid.owl

renal cell carcinoma
type: Class
subclass of: renal carcinoma
database_cross_reference: MESH:D002292
database_cross_reference: SNOMEDCT_US_2020_03_01:254915003
database_cross_reference: NCI:C9385
id: DOID:4450
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:300854
comment: Xref MGI.
definition: A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
database_cross_reference: GARD:13215
database_cross_reference: EFO:0000681
database_cross_reference: UMLS_CUI:C0007134
database_cross_reference: ORDO:217071
has_exact_synonym: RCC
has_exact_synonym: adenocarcinoma of kidney
has_exact_synonym: hypernephroma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

renal carcinoma
type: Class
subclass of: kidney cancer
subclass of: carcinoma
id: DOID:4451
database_cross_reference: NCI:C9384
has_obo_namespace: disease_ontology
definition: A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).
database_cross_reference: SNOMEDCT_US_2020_03_01:254915003
database_cross_reference: UMLS_CUI:C1378703
has_exact_synonym: carcinoma of kidney
has_exact_synonym: kidney carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

hereditary renal cell carcinoma
type: Class
subclass of: renal cell carcinoma
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9571
id: DOID:4455
imported from: doid.owl

primary hyperaldosteronism
type: Class
subclass of: adrenal gland hyperfunction
has_alternative_id: DOID:12252
comment: Xref MGI.
database_cross_reference: UMLS_CUI:C0010481
database_cross_reference: ICD9CM:255.0
database_cross_reference: ICD10CM:E24
database_cross_reference: ICD9CM:255.1
database_cross_reference: ICD10CM:E26
definition: An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.
has_exact_synonym: Cushing syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:88213004
database_cross_reference: OMIM:605635
database_cross_reference: NCI:C113213
database_cross_reference: MESH:D006929
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:235936
database_cross_reference: UMLS_CUI:C0020428
database_cross_reference: NCI:C2969
database_cross_reference: OMIM:613677
id: DOID:446
database_cross_reference: MESH:D003480
database_cross_reference: SNOMEDCT_US_2020_03_01:154705004
has_exact_synonym: Cushing's syndrome
has_exact_synonym: hyperaldosteronism
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

multilocular clear cell renal cell carcinoma
type: Class
subclass of: renal cell carcinoma
database_cross_reference: NCI:C4524
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0346249
database_cross_reference: SNOMEDCT_US_2020_03_01:254916002
id: DOID:4463
has_exact_synonym: cystadenocarcinoma of kidney
has_exact_synonym: renal cystadenocarcinoma
in_subset: NCIthesaurus
imported from: doid.owl

collecting duct carcinoma
type: Class
subclass of: renal cell carcinoma
database_cross_reference: MESH:D002292
database_cross_reference: UMLS_CUI:C1266044
database_cross_reference: SNOMEDCT_US_2020_03_01:733470002
database_cross_reference: NCI:C6194
id: DOID:4464
has_exact_synonym: carcinoma of renal Collecting duct
has_obo_namespace: disease_ontology
definition: A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material.
database_cross_reference: GARD:9573
has_exact_synonym: renal Medullary carcinoma
has_exact_synonym: renal carcinoma, collecting duct type
in_subset: NCIthesaurus
imported from: doid.owl

papillary renal cell carcinoma
type: Class
subclass of: renal cell carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:4797003
database_cross_reference: UMLS_CUI:C1306837
database_cross_reference: MESH:D002292
definition: A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.
has_alternative_id: DOID:8063
database_cross_reference: OMIM:605074
database_cross_reference: GARD:9572
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Chromophil carcinoma of kidney
id: DOID:4465
database_cross_reference: UMLS_CUI:C1336078
database_cross_reference: NCI:C6975
database_cross_reference: MESH:C538614
database_cross_reference: NCI:C27890
has_exact_synonym: Papillary renal cell carcinoma
has_obo_namespace: disease_ontology
has_exact_synonym: papillary kidney carcinoma
has_exact_synonym: sporadic papillary renal cell carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

clear cell renal cell carcinoma
type: Class
subclass of: renal cell carcinoma
id: DOID:4467
database_cross_reference: NCI:C4033
has_exact_synonym: Clear cell carcinoma of kidney
database_cross_reference: UMLS_CUI:C0279702
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9574
database_cross_reference: SNOMEDCT_US_2020_03_01:254915003
definition: A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.
comment: MESH:C538445 added from NeuroDevNet [WAK].
has_related_synonym: Clear-cell metastatic renal cell carcinoma
database_cross_reference: MESH:D002292
has_exact_synonym: clear cell kidney carcinoma
has_exact_synonym: conventional (Clear cell) renal cell carcinoma
has_exact_synonym: conventional renal cell carcinoma
has_exact_synonym: renal clear cell carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

clear cell adenocarcinoma
type: Class
subclass of: adenocarcinoma
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D018262
database_cross_reference: SNOMEDCT_US_2020_03_01:2221008
has_alternative_id: DOID:2617
database_cross_reference: SNOMEDCT_US_2020_03_01:30546008
database_cross_reference: UMLS_CUI:C0334322
database_cross_reference: MESH:D008649
id: DOID:4468
database_cross_reference: UMLS_CUI:C0025490
database_cross_reference: SNOMEDCT_US_2020_03_01:80727009
database_cross_reference: NCI:C36815
database_cross_reference: UMLS_CUI:C0206681
database_cross_reference: NCI:C4072
definition: An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
has_exact_synonym: Clear cell adenocarcinoma
database_cross_reference: NCI:C4156
has_alternative_id: DOID:4940
has_exact_synonym: Mesonephroid Clear cell carcinoma
has_exact_synonym: Mesonephroma
has_exact_synonym: Mesonephroma, malignant
has_exact_synonym: Water-Clear cell adenocarcinoma
has_exact_synonym: Water-clear cell adenocarcinoma
has_exact_synonym: Water-clear cell carcinoma
has_exact_synonym: Wolffian duct neoplasm
has_exact_synonym: malignant Mesonephroma
has_exact_synonym: mesonephroma
in_subset: NCIthesaurus
imported from: doid.owl

renal tubular transport disease
type: Class
subclass of: kidney disease
database_cross_reference: MESH:D015499
id: DOID:447
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0035091
has_exact_synonym: inborn renal tubular transport disorder
imported from: doid.owl

chromophobe renal cell carcinoma
type: Class
subclass of: renal cell carcinoma
definition: A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.
has_exact_synonym: Chromophobe carcinoma of kidney
database_cross_reference: UMLS_CUI:C1266042
database_cross_reference: SNOMEDCT_US_2020_03_01:128667008
database_cross_reference: MESH:D002292
id: DOID:4471
database_cross_reference: NCI:C4146
has_exact_synonym: chromophobe adenocarcinoma
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6064
has_exact_synonym: kidney chromophobe
has_exact_synonym: renal cell carcinoma, chromophobe cell
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

pseudohypoaldosteronism
type: Class
subclass of: renal tubular transport disease
has_obo_namespace: disease_ontology
id: DOID:4479
database_cross_reference: SNOMEDCT_US_2020_03_01:77098009
database_cross_reference: NCI:C85034
database_cross_reference: MESH:D011546
database_cross_reference: UMLS_CUI:C0033805
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

achondroplasia
type: Class
subclass of: osteochondrodysplasia
database_cross_reference: OMIM:100800
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34345
definition: An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.
database_cross_reference: GARD:8173
database_cross_reference: UMLS_CUI:C0001080
has_exact_synonym: Achondroplastic physique
has_exact_synonym: Chondrodystrophia
database_cross_reference: ICD10CM:Q77.4
database_cross_reference: MESH:D000130
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:268273004
id: DOID:4480
has_exact_synonym: osteosclerosis congenita
in_subset: NCIthesaurus
imported from: doid.owl

allergic rhinitis
type: Class
subclass of: respiratory allergy
subclass of: rhinitis
has_alternative_id: DOID:8241
has_alternative_id: DOID:8242
database_cross_reference: OMIM:607154
database_cross_reference: UMLS_CUI:C0002103
id: DOID:4481
has_alternative_id: DOID:14030
has_obo_namespace: disease_ontology
definition: A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
has_alternative_id: DOID:12089
database_cross_reference: EFO:0003956
database_cross_reference: NCI:C34987
has_exact_synonym: Non-seasonal allergic rhinitis
has_exact_synonym: Perenial allergic rhinitis
database_cross_reference: SNOMEDCT_US_2020_03_01:38103000
has_exact_synonym: atopic rhinitis
has_exact_synonym: hay fever
has_exact_synonym: pollenosis
has_exact_synonym: seasonal allergic rhinitis
in_subset: NCIthesaurus
imported from: doid.owl

rhinitis
type: Class
subclass of: nasal cavity disease
id: DOID:4483
definition: A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.
database_cross_reference: SNOMEDCT_US_2020_03_01:70076002
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34986
database_cross_reference: UMLS_CUI:C0035455
database_cross_reference: MESH:D012220
has_related_synonym: runny nose
in_subset: NCIthesaurus
imported from: doid.owl

avian influenza
type: Class
subclass of: influenza
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0016627
database_cross_reference: SNOMEDCT_US_2020_03_01:55604004
definition: An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.
id: DOID:4492
database_cross_reference: MESH:D005585
database_cross_reference: ICD10CM:J09.X
has_exact_synonym: avian flu
has_exact_synonym: bird flu
in_subset: zoonotic infectious disease
imported from: doid.owl

myotonic disease
type: Class
subclass of: muscular dystrophy
database_cross_reference: SNOMEDCT_US_2020_03_01:155096007
database_cross_reference: MESH:D020967
database_cross_reference: NCI:C84913
database_cross_reference: ICD9CM:359.2
has_obo_namespace: disease_ontology
id: DOID:450
database_cross_reference: UMLS_CUI:C0553604
definition: A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
database_cross_reference: ICD10CM:G71.1
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

hypokalemia
type: Class
subclass of: mineral metabolism disease
id: DOID:4500
database_cross_reference: UMLS_CUI:C1514284
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34939
has_exact_synonym: hypopotassemia
has_exact_synonym: potassium deficiency disorder
in_subset: NCIthesaurus
imported from: doid.owl

orofaciodigital syndrome
type: Class
subclass of: syndrome
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A syndrome that is characterized by malformations of the face, oral cavity, and digits.
database_cross_reference: MESH:D009958
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:52868006
id: DOID:4501
database_cross_reference: UMLS_CUI:C0029294
database_cross_reference: ICD10CM:Q87.0
has_exact_synonym: oral-facial-digital syndrome
imported from: doid.owl

pleomorphic adenoma
type: Class
subclass of: gastrointestinal system benign neoplasm
database_cross_reference: MESH:D008949
database_cross_reference: NCI:C35691
definition: A gastrointestinal system benign neoplasm that is a located_in the salivary glands.
has_obo_namespace: disease_ontology
id: DOID:452
database_cross_reference: SNOMEDCT_US_2020_03_01:8360001
database_cross_reference: OMIM:181030
has_exact_synonym: Pleomorphic adenoma
database_cross_reference: UMLS_CUI:C0026277
has_exact_synonym: mixed tumor of the Salivary gland
in_subset: NCIthesaurus
imported from: doid.owl

mucoepidermoid carcinoma
type: Class
subclass of: salivary gland carcinoma
database_cross_reference: NCI:C3772
definition: A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells.
id: DOID:4531
database_cross_reference: SNOMEDCT_US_2020_03_01:4079000
database_cross_reference: GARD:10671
database_cross_reference: MESH:D018277
database_cross_reference: UMLS_CUI:C0206694
has_obo_namespace: disease_ontology
has_exact_synonym: MEC
has_exact_synonym: Mucoepidermoid carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

Hallermann-Streiff syndrome
type: Class
subclass of: syndrome
database_cross_reference: OMIM:234100
definition: A syndrome that affects growth, cranial development, hair growth and dental development.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D006210
database_cross_reference: SNOMEDCT_US_2020_03_01:7903009
id: DOID:4534
has_exact_synonym: Francois dyscephalic syndrome
database_cross_reference: ORDO:2108
database_cross_reference: GARD:288
has_exact_synonym: Hallermann's syndrome
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0018522
database_cross_reference: NCI:C84746
has_exact_synonym: Hallerman - Streiff syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hypotrichosis
type: Class
subclass of: hair disease
database_cross_reference: OMIM:PS605389
database_cross_reference: MESH:D007039
id: DOID:4535
database_cross_reference: UMLS_CUI:C0020678
definition: A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:53602002
comment: Xref MGI.
database_cross_reference: ORDO:55654
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

dysgraphia
type: Class
subclass of: writing disorder
definition: A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper.
database_cross_reference: UMLS_CUI:C0001825
database_cross_reference: SNOMEDCT_US_2020_03_01:27206009
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000381
database_cross_reference: ICD10CM:R48.8
id: DOID:4540
imported from: doid.owl

retrograde amnesia
type: Class
subclass of: amnestic disorder
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000648
database_cross_reference: SNOMEDCT_US_2020_03_01:51921000
database_cross_reference: UMLS_CUI:C0002624
definition: An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.
id: DOID:4543
database_cross_reference: NCI:C34372
database_cross_reference: ICD10CM:R41.2
in_subset: NCIthesaurus
imported from: doid.owl

mesenchymal chondrosarcoma
type: Class
subclass of: chondrosarcoma
id: DOID:4545
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:56565002
database_cross_reference: MESH:D018211
database_cross_reference: NCI:C3737
database_cross_reference: UMLS_CUI:C0206637
in_subset: NCIthesaurus
imported from: doid.owl

extraskeletal mesenchymal chondrosarcoma
type: Class
subclass of: extraosseous chondrosarcoma
database_cross_reference: UMLS_CUI:C1275279
database_cross_reference: NCI:C27481
database_cross_reference: SNOMEDCT_US_2020_03_01:404080006
has_obo_namespace: disease_ontology
id: DOID:4548
has_exact_synonym: mesenchymal extraosseous chondrosarcoma
in_subset: NCIthesaurus
imported from: doid.owl

extraosseous chondrosarcoma
type: Class
subclass of: chondrosarcoma
definition: A chondrosarcoma that is located_in exclusively soft tissue.
has_obo_namespace: disease_ontology
id: DOID:4549
imported from: doid.owl

anus benign neoplasm
type: Class
subclass of: anus disease
subclass of: intestinal benign neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:126849006
database_cross_reference: UMLS_CUI:C0003463
id: DOID:4551
database_cross_reference: MESH:D001005
has_exact_synonym: anal neoplasm
has_exact_synonym: anal tumors
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2877
has_exact_synonym: neoplasm of anus
in_subset: NCIthesaurus
imported from: doid.owl

lung large cell carcinoma
type: Class
subclass of: lung non-small cell carcinoma
database_cross_reference: UMLS_CUI:C0345958
database_cross_reference: NCI:C4450
has_obo_namespace: disease_ontology
id: DOID:4556
database_cross_reference: SNOMEDCT_US_2020_03_01:254629004
has_exact_synonym: large cell carcinoma of lung
has_exact_synonym: large cell lung carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

ascariasis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: ICD10CM:B77
database_cross_reference: ICD9CM:127.0
database_cross_reference: MESH:D001196
has_related_synonym: Ascaris lumbricoides infection
has_obo_namespace: disease_ontology
definition: A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation.
database_cross_reference: NCI:C128392
has_exact_synonym: Ascariasis - roundworm
id: DOID:456
database_cross_reference: UMLS_CUI:C0003950
database_cross_reference: SNOMEDCT_US_2020_03_01:2435008
in_subset: NCIthesaurus
imported from: doid.owl

benign meningioma
type: Class
subclass of: central nervous system benign neoplasm
id: DOID:4587
database_cross_reference: MESH:D008579
database_cross_reference: SNOMEDCT_US_2020_03_01:724171006
database_cross_reference: NCI:C4055
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0281784
has_exact_synonym: meningioma, benign
in_subset: NCIthesaurus
imported from: doid.owl

lymphoplasmacyte-rich meningioma
type: Class
subclass of: meningioma
has_exact_synonym: Lymphoplasmacyte-Rich meningioma
database_cross_reference: UMLS_CUI:C0431119
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4720
database_cross_reference: SNOMEDCT_US_2020_03_01:19453003
id: DOID:4591
has_exact_synonym: Lymphoplasmocyte-rich meningioma
in_subset: NCIthesaurus
imported from: doid.owl

epidermolytic hyperkeratosis
type: Class
subclass of: skin disease
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Epidermolytic palmoplantar hyperkeratosis
database_cross_reference: UMLS_CUI:C0079153
database_cross_reference: ICD10CM:Q80.3
database_cross_reference: NCI:C62569
id: DOID:4603
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:113800
database_cross_reference: MESH:D017488
database_cross_reference: GARD:1039
has_exact_synonym: Bullous ichthyosiform erythroderma
database_cross_reference: SNOMEDCT_US_2020_03_01:20512000
has_exact_synonym: bullous congenital ichthyosiform erythroderma
in_subset: NCIthesaurus
imported from: doid.owl

bile duct cancer
type: Class
subclass of: bile duct disease
subclass of: biliary tract cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:93790004
id: DOID:4606
definition: A biliary tract cancer that is located_in the bile duct.
has_alternative_id: DOID:10019
database_cross_reference: UMLS_CUI:C0005396
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0153453
database_cross_reference: NCI:C7483
database_cross_reference: MESH:D001650
database_cross_reference: ICD9CM:156.1
has_exact_synonym: Ca extrahepatic bile ducts
database_cross_reference: NCI:C2898
database_cross_reference: ICD10CM:C24.0
has_exact_synonym: bile duct tumor
has_exact_synonym: malignant neoplasm of the extrahepatic bile duct
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

biliary tract cancer
type: Class
subclass of: hepatobiliary system cancer
database_cross_reference: UMLS_CUI:C0005426
has_alternative_id: DOID:8092
database_cross_reference: MESH:D001661
id: DOID:4607
database_cross_reference: GARD:9304
definition: A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0750952
database_cross_reference: SNOMEDCT_US_2020_03_01:93688006
database_cross_reference: ICD9CM:156.9
database_cross_reference: SNOMEDCT_US_2020_03_01:126853008
database_cross_reference: GARD:5924
database_cross_reference: ICD10CM:C24.9
has_exact_synonym: malignant tumour of biliary tract
imported from: doid.owl

muscle benign neoplasm
type: Class
subclass of: musculoskeletal system benign neoplasm
subclass of: muscular disease
database_cross_reference: UMLS_CUI:C0027664
database_cross_reference: SNOMEDCT_US_2020_03_01:115228006
database_cross_reference: NCI:C4063
database_cross_reference: MESH:D009379
has_alternative_id: DOID:2692
database_cross_reference: MESH:D019042
has_exact_synonym: Myomatous neoplasm
has_exact_synonym: Myomatous tumor
has_obo_namespace: disease_ontology
id: DOID:461
database_cross_reference: UMLS_CUI:C0282606
has_exact_synonym: muscle neoplasm
has_exact_synonym: muscle tissue neoplasm
has_exact_synonym: neoplasm of muscle
in_subset: NCIthesaurus
imported from: doid.owl

intestinal benign neoplasm
type: Class
subclass of: gastrointestinal system benign neoplasm
subclass of: intestinal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:126769007
database_cross_reference: NCI:C3141
database_cross_reference: UMLS_CUI:C0021841
definition: A gastrointestinal system benign neoplasm that is located_in the intestine.
has_obo_namespace: disease_ontology
id: DOID:4610
database_cross_reference: MESH:D007414
has_exact_synonym: intestinal tumors
has_exact_synonym: intestine growth
has_exact_synonym: neoplasm of intestinal tract
in_subset: NCIthesaurus
imported from: doid.owl

ulnar neuropathy
type: Class
subclass of: mononeuropathy
database_cross_reference: MESH:D020424
database_cross_reference: SNOMEDCT_US_2020_03_01:55802003
id: DOID:4613
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154743
has_exact_synonym: Ulnar neuropathy
imported from: doid.owl

holoprosencephaly
type: Class
subclass of: syndrome
subclass of: congenital nervous system abnormality
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:6665
database_cross_reference: UMLS_CUI:C0079541
database_cross_reference: ORDO:2162
database_cross_reference: ICD10CM:Q04.2
definition: A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
database_cross_reference: OMIM:PS236100
database_cross_reference: MESH:D016142
has_obo_namespace: disease_ontology
id: DOID:4621
has_exact_synonym: Holoprosencephaly sequence
database_cross_reference: SNOMEDCT_US_2020_03_01:30915001
database_cross_reference: NCI:C74988
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

Ollier disease
type: Class
subclass of: syndrome
database_cross_reference: UMLS_CUI:C0024454
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:46041001
id: DOID:4624
database_cross_reference: GARD:7251
database_cross_reference: ORDO:296
definition: A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.
has_exact_synonym: DYSCHONDROPLASIA
has_exact_synonym: ENCHONDROMATOSIS, MULTIPLE
has_exact_synonym: Enchondromatosis with haemangiomata
database_cross_reference: NCI:C3213
database_cross_reference: MESH:D004687
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q78.4
has_exact_synonym: Kast's syndrome
database_cross_reference: OMIM:166000
has_exact_synonym: OSTEOCHONDROMATOSIS
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hydranencephaly
type: Class
subclass of: anencephaly
database_cross_reference: SNOMEDCT_US_2020_03_01:30023002
database_cross_reference: MESH:D006832
database_cross_reference: ICD10CM:Q04.3
id: DOID:4626
database_cross_reference: UMLS_CUI:C0020225
database_cross_reference: GARD:6681
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C98949
in_subset: NCIthesaurus
imported from: doid.owl

ideomotor apraxia
type: Class
subclass of: apraxia
database_cross_reference: SNOMEDCT_US_2020_03_01:39746003
database_cross_reference: MESH:D020240
has_exact_synonym: Classic apraxia
id: DOID:4627
has_exact_synonym: Ideomotor dyspraxia
has_exact_synonym: Limb-kinetic apraxia
has_exact_synonym: Transcortical apraxia
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0234523
in_subset: DO FlyBase slim
imported from: doid.owl

cervical adenitis
type: Class
subclass of: lymphadenitis
database_cross_reference: UMLS_CUI:C0149642
id: DOID:4637
database_cross_reference: NCI:C26937
has_exact_synonym: cervical Lymphadenitis
has_exact_synonym: cervical lymphadenitis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:3502005
in_subset: NCIthesaurus
imported from: doid.owl

suppurative lymphadenitis
type: Class
subclass of: lymphadenitis
id: DOID:4639
database_cross_reference: NCI:C27135
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0392051
database_cross_reference: SNOMEDCT_US_2020_03_01:48573006
has_exact_synonym: Suppurative lymphadenopathy
in_subset: NCIthesaurus
imported from: doid.owl

epidermolysis bullosa simplex
type: Class
subclass of: epidermolysis bullosa
database_cross_reference: OMIM:601001
database_cross_reference: UMLS_CUI:C0079298
database_cross_reference: GARD:10752
database_cross_reference: ICD10CM:Q81.0
database_cross_reference: OMIM:615425
definition: An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.
database_cross_reference: ORDO:304
database_cross_reference: MESH:D016110
id: DOID:4644
has_exact_synonym: Epidermolysis bullosa simplex
database_cross_reference: NCI:C84692
database_cross_reference: SNOMEDCT_US_2020_03_01:205585003
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

retinal cancer
type: Class
subclass of: ocular cancer
subclass of: retinal disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3216
database_cross_reference: NCI:C4800
id: DOID:4645
database_cross_reference: MESH:D019572
has_alternative_id: DOID:770
database_cross_reference: SNOMEDCT_US_2020_03_01:93987004
database_cross_reference: UMLS_CUI:C0024622
database_cross_reference: ICD9CM:190.5
database_cross_reference: SNOMEDCT_US_2020_03_01:127002001
database_cross_reference: UMLS_CUI:C0524801
database_cross_reference: ICD10CM:C69.2
has_exact_synonym: Retinal tumor
has_exact_synonym: malignant Retinal neoplasm
has_exact_synonym: malignant neoplasm of retina
has_exact_synonym: malignant tumor of retina
has_exact_synonym: neoplasm of retina
in_subset: NCIthesaurus
imported from: doid.owl

familial retinoblastoma
type: Class
subclass of: retinoblastoma
database_cross_reference: NCI:C8495
id: DOID:4648
database_cross_reference: UMLS_CUI:C0751483
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D012175
has_exact_synonym: Hereditary Retinoblastoma
in_subset: NCIthesaurus
imported from: doid.owl

bilateral retinoblastoma
type: Class
subclass of: retinoblastoma
id: DOID:4650
definition: A retinoblastoma that develops in both eyes.
database_cross_reference: NCI:C8713
database_cross_reference: UMLS_CUI:C0854914
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

indolent systemic mastocytosis
type: Class
subclass of: systemic mastocytosis
database_cross_reference: ICD10CM:D47.02
database_cross_reference: SNOMEDCT_US_2020_03_01:70910003
has_exact_synonym: Indolent systemic mastocytosis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0272203
database_cross_reference: MESH:D034721
has_exact_synonym: ISM
database_cross_reference: NCI:C9286
id: DOID:4660
in_subset: NCIthesaurus
imported from: doid.owl

multiple chemical sensitivity
type: Class
subclass of: syndrome
has_exact_synonym: 20th century disease
id: DOID:4661
database_cross_reference: UMLS_CUI:C0242992
database_cross_reference: MESH:D018777
database_cross_reference: SNOMEDCT_US_2020_03_01:702772003
definition: A syndrome that is an adverse physical reaction to low levels of many common chemicals.
has_exact_synonym: chemical AIDS
has_obo_namespace: disease_ontology
has_exact_synonym: environmental illness
has_exact_synonym: idiopathic environmental illness
has_exact_synonym: total allergy syndrome
imported from: doid.owl

androgen insensitivity syndrome
type: Class
subclass of: disorder of sexual development
has_obo_namespace: disease_ontology
has_alternative_id: DOID:4672
id: DOID:4674
database_cross_reference: SNOMEDCT_US_2020_03_01:12313004
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0039585
database_cross_reference: ORDO:754
database_cross_reference: GARD:5803
database_cross_reference: ICD10CM:E34.5
database_cross_reference: NCI:C27226
has narrower match: MESH:D013734
has_exact_synonym: Androgen resistance syndrome
has_exact_synonym: Androgen-Insensitivity Syndrome
has_exact_synonym: Feminisation - testicular
has_exact_synonym: Goldberg - Maxwell syndrome
has_exact_synonym: Goldberg-Maxwell syndrome
database_cross_reference: OMIM:300068
database_cross_reference: ICD9CM:259.51
definition: A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
has_exact_synonym: testicular Feminization syndrome
has_exact_synonym: testicular feminization
in_subset: NCIthesaurus
imported from: doid.owl

keratitis
type: Class
subclass of: corneal disease
database_cross_reference: MESH:D007634
database_cross_reference: NCI:C26805
definition: A corneal disease that is characterized by inflammation of the cornea.
database_cross_reference: SNOMEDCT_US_2020_03_01:193757003
database_cross_reference: ICD10CM:H16
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:370
id: DOID:4677
database_cross_reference: UMLS_CUI:C0022568
in_subset: NCIthesaurus
imported from: doid.owl

intramuscular hemangioma
type: Class
subclass of: hemangioma
subclass of: muscle benign neoplasm
database_cross_reference: NCI:C3699
has_exact_synonym: Intramuscular hemangioma
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0205789
database_cross_reference: SNOMEDCT_US_2020_03_01:54249004
id: DOID:468
has_exact_synonym: Intramuscular Angioma
database_cross_reference: MESH:D006391
in_subset: NCIthesaurus
imported from: doid.owl

breast metaplastic carcinoma
type: Class
subclass of: breast carcinoma
has_obo_namespace: disease_ontology
id: DOID:4680
database_cross_reference: GARD:10804
database_cross_reference: NCI:C5164
definition: A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types.
has_exact_synonym: Metaplastic carcinoma of the breast
database_cross_reference: UMLS_CUI:C1334708
database_cross_reference: SNOMEDCT_US_2020_03_01:763479005
has_related_synonym: metaplastic carcinoma of breast
in_subset: NCIthesaurus
imported from: doid.owl

extrahepatic bile duct carcinoma
type: Class
subclass of: bile duct carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:372101000
database_cross_reference: NCI:C3860
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0238019
id: DOID:4682
has_exact_synonym: carcinoma of extrahepatic bile duct
has_exact_synonym: extrahepatic bile duct cancer
in_subset: NCIthesaurus
imported from: doid.owl

cutaneous mucoepidermoid carcinoma
type: Class
subclass of: skin carcinoma
database_cross_reference: NCI:C4472
id: DOID:4683
database_cross_reference: SNOMEDCT_US_2020_03_01:254713002
has_exact_synonym: Mucoepidermoid carcinoma of skin
has_exact_synonym: Mucoepidermoid skin carcinoma
database_cross_reference: UMLS_CUI:C0346019
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

endophthalmitis
type: Class
subclass of: globe disease
database_cross_reference: SNOMEDCT_US_2020_03_01:1847009
database_cross_reference: NCI:C34586
database_cross_reference: UMLS_CUI:C0014236
has_obo_namespace: disease_ontology
id: DOID:4692
definition: A globe disease that is characterized by inflammation of the inside of the eye.
database_cross_reference: MESH:D009877
in_subset: NCIthesaurus
imported from: doid.owl

perineurioma
type: Class
subclass of: peripheral nerve sheath neoplasm
database_cross_reference: MESH:D018317
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6912
database_cross_reference: GARD:12698
database_cross_reference: NCI:C4973
has_alternative_id: DOID:8371
id: DOID:4697
database_cross_reference: UMLS_CUI:C1370657
database_cross_reference: UMLS_CUI:C0751691
database_cross_reference: SNOMEDCT_US_2020_03_01:128795001
has_exact_synonym: soft tissue Perineurioma
in_subset: NCIthesaurus
imported from: doid.owl

prostate disease
type: Class
subclass of: male reproductive system disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:30281009
database_cross_reference: ICD10CM:N42.9
database_cross_reference: ICD9CM:602.9
database_cross_reference: MESH:D011469
database_cross_reference: NCI:C26865
id: DOID:47
database_cross_reference: UMLS_CUI:C0033575
in_subset: NCIthesaurus
imported from: doid.owl

mongolian spot
type: Class
subclass of: skin disease
id: DOID:4702
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0265985
database_cross_reference: MESH:D049328
has_exact_synonym: Mongolian Macula
database_cross_reference: SNOMEDCT_US_2020_03_01:40467008
database_cross_reference: NCI:C3945
in_subset: NCIthesaurus
imported from: doid.owl

infratentorial cancer
type: Class
subclass of: brain cancer
database_cross_reference: MESH:D015192
database_cross_reference: UMLS_CUI:C0751593
database_cross_reference: UMLS_CUI:C0021432
has_alternative_id: DOID:4789
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4966
id: DOID:4706
database_cross_reference: NCI:C3139
database_cross_reference: ICD10CM:C71.7
definition: A brain cancer that is located_in the infratentorial region.
has_exact_synonym: brain neoplasm, Infratentorial
has_exact_synonym: malignant Infratentorial tumors
in_subset: NCIthesaurus
imported from: doid.owl

foramen magnum meningioma
type: Class
subclass of: meningioma
subclass of: skull base meningioma
id: DOID:4708
database_cross_reference: UMLS_CUI:C1333630
database_cross_reference: NCI:C5280
has_obo_namespace: disease_ontology
has_exact_synonym: meningioma of the Foramen Magnum
in_subset: NCIthesaurus
imported from: doid.owl

skin hemangioma
type: Class
subclass of: hemangioma
subclass of: skin benign neoplasm
id: DOID:471
database_cross_reference: NCI:C4905
has_exact_synonym: Angiomatous naevus of skin
database_cross_reference: UMLS_CUI:C0687140
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:254773009
has_exact_synonym: Angioma of the skin
in_subset: NCIthesaurus
imported from: doid.owl

intracranial hypotension
type: Class
subclass of: brain disease
definition: A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging.
database_cross_reference: SNOMEDCT_US_2020_03_01:433691000124104
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D019585
id: DOID:4723
database_cross_reference: UMLS_CUI:C0524812
imported from: doid.owl

brain edema
type: Class
subclass of: brain disease
definition: A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.
id: DOID:4724
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1527311
database_cross_reference: SNOMEDCT_US_2020_03_01:85974009
database_cross_reference: MESH:D001929
has_exact_synonym: intracranial swelling
has_exact_synonym: wet brain
imported from: doid.owl

somatoform disorder
type: Class
subclass of: disease of mental health
database_cross_reference: UMLS_CUI:C0520482
database_cross_reference: NCI:C34956
database_cross_reference: ICD10CM:F45.0
has_alternative_id: DOID:144
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013001
id: DOID:4737
database_cross_reference: ICD9CM:300.81
database_cross_reference: UMLS_CUI:C0037650
database_cross_reference: ICD10CM:F45
has_alternative_id: DOID:10133
database_cross_reference: ICD9CM:300.8
database_cross_reference: SNOMEDCT_US_2020_03_01:192430009
database_cross_reference: SNOMEDCT_US_2020_03_01:60368009
definition: A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.
has_exact_synonym: physiological malfunction arising from mental factor
has_exact_synonym: psychophysiologic disorder
has_exact_synonym: psychosomatic disorder
in_subset: NCIthesaurus
imported from: doid.owl

histiocytoid hemangioma
type: Class
subclass of: hemangioma
database_cross_reference: UMLS_CUI:C0205788
database_cross_reference: NCI:C4298
has_obo_namespace: disease_ontology
has_exact_synonym: Angiolymphoid hyperplasia with eosinophilia
id: DOID:474
database_cross_reference: MESH:D006391
database_cross_reference: SNOMEDCT_US_2020_03_01:253054009
has_exact_synonym: epithelioid haemangioma
has_exact_synonym: epithelioid hemangioma
in_subset: NCIthesaurus
imported from: doid.owl

placenta accreta
type: Class
subclass of: placenta disease
database_cross_reference: MESH:D010921
definition: A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium.
database_cross_reference: SNOMEDCT_US_2020_03_01:70129008
database_cross_reference: ICD10CM:O43.21
database_cross_reference: UMLS_CUI:C0032044
database_cross_reference: NCI:C26856
id: DOID:4744
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

striatonigral degeneration
type: Class
subclass of: multiple system atrophy
database_cross_reference: OMIM:271930
database_cross_reference: NCI:C125695
database_cross_reference: ICD10CM:G23.2
database_cross_reference: OMIM:500003
database_cross_reference: UMLS_CUI:C0270733
database_cross_reference: MESH:D020955
database_cross_reference: SNOMEDCT_US_2020_03_01:29618004
database_cross_reference: OMIM:609161
id: DOID:4751
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [LS].
in_subset: NCIthesaurus
imported from: doid.owl

multiple system atrophy
type: Class
subclass of: synucleinopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:230297002
comment: OMIM mapping confirmed by DO. [LS].
id: DOID:4752
database_cross_reference: NCI:C84909
database_cross_reference: UMLS_CUI:C0393571
has_alternative_id: DOID:11510
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:16576004
database_cross_reference: GARD:7079
database_cross_reference: UMLS_CUI:C0037019
database_cross_reference: MESH:D012791
database_cross_reference: MESH:D019578
has_exact_synonym: Multiple system atrophy
has_exact_synonym: Shy-Drager syndrome
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary blastoma
type: Class
subclass of: blastoma
subclass of: lung cancer
subclass of: pleural disease
definition: A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children.
database_cross_reference: MESH:D018202
has_obo_namespace: disease_ontology
id: DOID:4765
database_cross_reference: UMLS_CUI:C0206629
database_cross_reference: NCI:C3732
database_cross_reference: SNOMEDCT_US_2020_03_01:189815007
has_exact_synonym: Blastoma of lung
in_subset: NCIthesaurus
imported from: doid.owl

pleuropulmonary blastoma
type: Class
subclass of: pulmonary blastoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5669
database_cross_reference: SNOMEDCT_US_2020_03_01:707670009
database_cross_reference: MESH:C537516
database_cross_reference: GARD:8757
id: DOID:4769
database_cross_reference: OMIM:601200
database_cross_reference: UMLS_CUI:C1266144
definition: A pulmonary blastoma that derives_from the lung or pleural cavity.
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Pleuropulmonary blastoma
in_subset: NCIthesaurus
imported from: doid.owl

congenital mesoblastic nephroma
type: Class
subclass of: physical disorder
subclass of: kidney cancer
database_cross_reference: GARD:1493
definition: A kidney cancer that is characterized by the presence of fibroblastic cells.
database_cross_reference: UMLS_CUI:C1332965
id: DOID:4773
has_alternative_id: DOID:4772
database_cross_reference: MESH:D018201
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6569
in_subset: NCIthesaurus
imported from: doid.owl

diffuse glomerulonephritis
type: Class
subclass of: glomerulonephritis
database_cross_reference: NCI:C35799
id: DOID:4781
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0859036
in_subset: NCIthesaurus
imported from: doid.owl

intracranial primitive neuroectodermal tumor
type: Class
subclass of: central nervous system primitive neuroectodermal neoplasm
database_cross_reference: UMLS_CUI:C1334246
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5817
id: DOID:4788
has_exact_synonym: intracranial PNET
in_subset: NCIthesaurus
imported from: doid.owl

angiokeratoma
type: Class
subclass of: skin hemangioma
database_cross_reference: NCI:C2874
database_cross_reference: UMLS_CUI:C0346075
database_cross_reference: SNOMEDCT_US_2020_03_01:26810009
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4488
has_exact_synonym: Angiokeratoma
database_cross_reference: SNOMEDCT_US_2020_03_01:254788004
has_exact_synonym: Angiokeratoma of skin
id: DOID:479
has_alternative_id: DOID:665
has_exact_synonym: Cutaneous Angiokeratoma
database_cross_reference: MESH:D000794
database_cross_reference: UMLS_CUI:C0002985
has_exact_synonym: skin angiokeratoma
in_subset: NCIthesaurus
imported from: doid.owl

medulloepithelioma
type: Class
subclass of: central nervous system primitive neuroectodermal neoplasm
id: DOID:4790
has_exact_synonym: Diktyoma, malignant
database_cross_reference: NCI:C4327
database_cross_reference: UMLS_CUI:C0334596
database_cross_reference: MESH:D018242
has_exact_synonym: Medulloepithelioma
has_exact_synonym: Medulloepithelioma, central nervous system
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:715903004
in_subset: NCIthesaurus
imported from: doid.owl

supratentorial primitive neuroectodermal tumor
type: Class
subclass of: supratentorial cancer
database_cross_reference: GARD:7366
database_cross_reference: SNOMEDCT_US_2020_03_01:699318007
id: DOID:4791
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1336538
database_cross_reference: NCI:C6968
has_exact_synonym: Supratentorial PNET
in_subset: NCIthesaurus
imported from: doid.owl

ependymoblastoma
type: Class
subclass of: central nervous system primitive neuroectodermal neoplasm
database_cross_reference: NCI:C4915
database_cross_reference: SNOMEDCT_US_2020_03_01:253070006
database_cross_reference: MESH:D018242
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0700367
id: DOID:4794
in_subset: NCIthesaurus
imported from: doid.owl

space motion sickness
type: Class
subclass of: motion sickness
database_cross_reference: SNOMEDCT_US_2020_03_01:21162009
database_cross_reference: MESH:D018489
has_obo_namespace: disease_ontology
id: DOID:4796
database_cross_reference: UMLS_CUI:C0242700
imported from: doid.owl

SM-AHNMD
type: Class
subclass of: systemic mastocytosis
id: DOID:4797
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C9284
database_cross_reference: SNOMEDCT_US_2020_03_01:397357000
database_cross_reference: UMLS_CUI:C1301365
has_exact_synonym: systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
has_exact_synonym: systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
in_subset: NCIthesaurus
imported from: doid.owl

male reproductive system disease
type: Class
subclass of: reproductive system disease
database_cross_reference: ICD9CM:608.9
database_cross_reference: ICD10CM:N50.9
database_cross_reference: SNOMEDCT_US_2020_03_01:64557000
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D005832
database_cross_reference: UMLS_CUI:C0017412
definition: A reproductive system disease that affects male reproductive organs.
id: DOID:48
imported from: doid.owl

movement disease
type: Class
subclass of: brain disease
database_cross_reference: MESH:D009069
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C116757
id: DOID:480
database_cross_reference: SNOMEDCT_US_2020_03_01:60342002
database_cross_reference: UMLS_CUI:C0026650
definition: A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.
in_subset: NCIthesaurus
imported from: doid.owl

cerebrotendinous xanthomatosis
type: Class
subclass of: xanthomatosis
definition: A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
database_cross_reference: NCI:C84628
database_cross_reference: UMLS_CUI:C0238052
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:213700
id: DOID:4810
database_cross_reference: MESH:D019294
has_exact_synonym: Cholestanol storage disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:5622
database_cross_reference: SNOMEDCT_US_2020_03_01:63246000
in_subset: NCIthesaurus
imported from: doid.owl

ganglioneuroma
type: Class
subclass of: autonomic nervous system benign neoplasm
database_cross_reference: UMLS_CUI:C1513025
id: DOID:4817
database_cross_reference: NCI:C42065
definition: An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum.
database_cross_reference: SNOMEDCT_US_2020_03_01:189929007
database_cross_reference: NCI:C3049
database_cross_reference: UMLS_CUI:C0017075
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D005729
in_subset: NCIthesaurus
imported from: doid.owl

cavernous hemangioma
type: Class
subclass of: vascular hemostatic disease
database_cross_reference: MESH:D006392
has_exact_synonym: Cavernous haemangioma
database_cross_reference: ICD10CM:D18.0
id: DOID:483
database_cross_reference: NCI:C3086
database_cross_reference: SNOMEDCT_US_2020_03_01:67668002
database_cross_reference: UMLS_CUI:C0018920
has_obo_namespace: disease_ontology
has_exact_synonym: Cavernoma
has_exact_synonym: Cavernous hemangioma
in_subset: NCIthesaurus
imported from: doid.owl

adenosquamous carcinoma
type: Class
subclass of: squamous cell carcinoma
database_cross_reference: NCI:C3727
definition: A squamous cell carcinoma that contains squamous cells and gland-like cells.
has_exact_synonym: Adenosquamous carcinoma
has_exact_synonym: Adenosquamous cell carcinoma
id: DOID:4830
database_cross_reference: UMLS_CUI:C0206623
database_cross_reference: SNOMEDCT_US_2020_03_01:403902008
database_cross_reference: MESH:D018196
has_obo_namespace: disease_ontology
has_exact_synonym: mixed adenocarcinoma and squamous carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

Gorham's disease
type: Class
subclass of: syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:240161003
definition: A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.
id: DOID:4837
has_exact_synonym: Disappearing bone disease
database_cross_reference: GARD:6542
has_related_synonym: Gorham-Stout Syndrome
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029436
has_exact_synonym: Gorham disease
database_cross_reference: MESH:D010015
has_exact_synonym: essential osteolysis
has_exact_synonym: massive osteolysis
has_exact_synonym: phantom bone disease
imported from: doid.owl

myoepithelial carcinoma
type: Class
subclass of: carcinoma
id: DOID:4838
database_cross_reference: GARD:10558
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0334699
database_cross_reference: SNOMEDCT_US_2020_03_01:24292006
definition: A carcinoma that derives_from myoepithelial cells.
database_cross_reference: NCI:C7596
in_subset: NCIthesaurus
imported from: doid.owl

vascular hemostatic disease
type: Class
subclass of: hemorrhagic disease
database_cross_reference: MESH:D020141
database_cross_reference: SNOMEDCT_US_2020_03_01:21112004
database_cross_reference: UMLS_CUI:C0600502
id: DOID:484
has_obo_namespace: disease_ontology
imported from: doid.owl

sebaceous carcinoma
type: Class
subclass of: carcinoma
subclass of: skin cancer
subclass of: sebaceous gland disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C8409
database_cross_reference: UMLS_CUI:C1382026
database_cross_reference: ICD10CM:C44
database_cross_reference: SNOMEDCT_US_2020_03_01:188083002
id: DOID:4840
has_exact_synonym: malignant Sebaceous tumor
has_exact_synonym: malignant neoplasm of sebaceous gland
in_subset: NCIthesaurus
imported from: doid.owl

subependymal glioma
type: Class
subclass of: benign ependymoma
database_cross_reference: UMLS_CUI:C0206725
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3795
id: DOID:4843
database_cross_reference: SNOMEDCT_US_2020_03_01:4553004
database_cross_reference: MESH:D018315
has_exact_synonym: Subependymal astrocytoma
has_exact_synonym: WHO grade I Ependymal tumor
has_exact_synonym: mixed subependymoma-ependymoma
in_subset: NCIthesaurus
imported from: doid.owl

benign ependymoma
type: Class
subclass of: benign glioma
id: DOID:4844
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3017
database_cross_reference: MESH:D004806
database_cross_reference: SNOMEDCT_US_2020_03_01:443643007
database_cross_reference: UMLS_CUI:C0014474
has_exact_synonym: WHO grade II Ependymal tumor
has_exact_synonym: epithelial ependymoma
in_subset: NCIthesaurus
imported from: doid.owl

pilomyxoid astrocytoma
type: Class
subclass of: astrocytoma
database_cross_reference: SNOMEDCT_US_2020_03_01:388600004
database_cross_reference: UMLS_CUI:C1519086
has_obo_namespace: disease_ontology
id: DOID:4845
database_cross_reference: NCI:C40315
in_subset: NCIthesaurus
imported from: doid.owl

cerebellar astrocytoma
type: Class
subclass of: malignant glioma
subclass of: cerebellum cancer
id: DOID:4848
database_cross_reference: NCI:C9475
database_cross_reference: UMLS_CUI:C0740480
has_obo_namespace: disease_ontology
has_exact_synonym: astrocytoma of Cerebellum
in_subset: NCIthesaurus
imported from: doid.owl

pilocytic astrocytoma
type: Class
subclass of: pediatric low-grade glioma
has_obo_namespace: disease_ontology
definition: A pediatric low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.
database_cross_reference: GARD:9808
has_exact_synonym: Piloid astrocytoma
database_cross_reference: UMLS_CUI:C0334583
database_cross_reference: SNOMEDCT_US_2020_03_01:67859002
id: DOID:4851
database_cross_reference: NCI:C4047
database_cross_reference: MESH:D001254
has_exact_synonym: grade I Astrocytic tumor
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

salivary gland adenoid cystic carcinoma
type: Class
subclass of: salivary gland carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:11671000
database_cross_reference: MESH:D003528
database_cross_reference: NCI:C2970
has_obo_namespace: disease_ontology
id: DOID:4866
database_cross_reference: UMLS_CUI:C0010606
definition: A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
has_exact_synonym: Cylindroma
has_exact_synonym: adenoid cystic cancer
has_exact_synonym: adenoid cystic carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

anterior horn cell disease
type: Class
subclass of: spinal muscular atrophy
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D016472
database_cross_reference: ICD9CM:335
database_cross_reference: UMLS_CUI:C0154681
database_cross_reference: SNOMEDCT_US_2020_03_01:267693003
id: DOID:4873
imported from: doid.owl

Colorado tick fever
type: Class
subclass of: viral infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:186607005
database_cross_reference: UMLS_CUI:C0009400
database_cross_reference: MESH:D003121
database_cross_reference: ICD10CM:A93.2
id: DOID:4885
definition: A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue.
has_exact_synonym: Tick fever, American mountain
has_obo_namespace: disease_ontology
in_subset: tick-borne infectious disease
imported from: doid.owl

lymph node tuberculosis
type: Class
subclass of: extrapulmonary tuberculosis
subclass of: lymph node disease
database_cross_reference: MESH:D014388
has_alternative_id: DOID:4888
database_cross_reference: MESH:D018601
database_cross_reference: ICD10CM:A18.2
database_cross_reference: SNOMEDCT_US_2020_03_01:10893003
database_cross_reference: NCI:C26896
definition: An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough.
database_cross_reference: UMLS_CUI:C0242830
database_cross_reference: UMLS_CUI:C0041316
id: DOID:4889
has_exact_synonym: Lymph Node Tuberculosis
has_exact_synonym: Tuberculous adenitis
has_exact_synonym: Tuberculous lymphadenopathy
has_obo_namespace: disease_ontology
has_exact_synonym: king's evil
has_exact_synonym: scrofula
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

bile duct adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: bile duct carcinoma
definition: A bile duct carcinoma that derives_from epithelial cells of glandular origin.
database_cross_reference: UMLS_CUI:C1370800
database_cross_reference: NCI:C27813
database_cross_reference: SNOMEDCT_US_2020_03_01:70179006
id: DOID:4896
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

bile duct carcinoma
type: Class
subclass of: carcinoma
subclass of: bile duct cancer
database_cross_reference: MESH:D001650
definition: A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
id: DOID:4897
database_cross_reference: NCI:C27814
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0740277
database_cross_reference: SNOMEDCT_US_2020_03_01:70179006
in_subset: NCIthesaurus
imported from: doid.owl

hemangioma of lung
type: Class
subclass of: hemangioma
subclass of: lung benign neoplasm
has_obo_namespace: disease_ontology
id: DOID:490
has_exact_synonym: pulmonary hemangioma
imported from: doid.owl

appendix carcinoma
type: Class
subclass of: appendix cancer
subclass of: carcinoma
id: DOID:4902
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:269541000
database_cross_reference: NCI:C9330
definition: An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has_exact_synonym: Ca appendix
database_cross_reference: UMLS_CUI:C0728951
has_exact_synonym: carcinoma of appendix
in_subset: NCIthesaurus
imported from: doid.owl

pancreatic carcinoma
type: Class
subclass of: pancreatic cancer
subclass of: carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:154475002
database_cross_reference: OMIM:260350
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C562463
database_cross_reference: UMLS_CUI:C0235974
has_related_synonym: Pancreatic carcinoma, familial
database_cross_reference: NCI:C3850
database_cross_reference: EFO:0002618
id: DOID:4905
comment: OMIM mapping confirmed by DO. [SN].
definition: A pancreas cancer that derives_from epithelial cells located_in the pancreas.
has_exact_synonym: Exocrine pancreas carcinoma
has_exact_synonym: carcinoma of pancreas
has_related_synonym: exocrine cancer
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

small intestine adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: small intestine carcinoma
database_cross_reference: NCI:C7888
has_obo_namespace: disease_ontology
id: DOID:4906
database_cross_reference: UMLS_CUI:C0278803
database_cross_reference: SNOMEDCT_US_2020_03_01:424440001
definition: A small intestine carcinoma that derives_from epithelial cells of glandular origin.
database_cross_reference: GARD:13090
has_related_synonym: adenocarcinoma of small Intestine
has_exact_synonym: small intestinal adenocarcinoma
in_subset: NCIthesaurus
imported from: doid.owl

small intestine carcinoma
type: Class
subclass of: small intestine cancer
subclass of: carcinoma
id: DOID:4907
database_cross_reference: UMLS_CUI:C0238196
definition: A small intestine cancer that develops from epithelial cells and is located_in the small intestine.
database_cross_reference: NCI:C7724
has_related_synonym: cancer of the small bowel
has_obo_namespace: disease_ontology
has_related_synonym: small bowel cancer
has_exact_synonym: small intestinal carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

anal carcinoma
type: Class
subclass of: anus cancer
subclass of: carcinoma
database_cross_reference: NCI:C9291
database_cross_reference: SNOMEDCT_US_2020_03_01:187762000
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D001005
database_cross_reference: UMLS_CUI:C0279637
id: DOID:4908
definition: A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus.
has_exact_synonym: Ca anus
has_exact_synonym: carcinoma of anus
in_subset: NCIthesaurus
imported from: doid.owl

pituitary carcinoma
type: Class
subclass of: pituitary cancer
subclass of: carcinoma
database_cross_reference: NCI:C4536
has_obo_namespace: disease_ontology
id: DOID:4916
database_cross_reference: UMLS_CUI:C0346300
database_cross_reference: MESH:D010911
database_cross_reference: SNOMEDCT_US_2020_03_01:128665000
has_exact_synonym: carcinoma of the Pituitary gland
in_subset: NCIthesaurus
imported from: doid.owl

renal pelvis carcinoma
type: Class
subclass of: kidney cancer
subclass of: carcinoma
database_cross_reference: NCI:C6142
database_cross_reference: SNOMEDCT_US_2020_03_01:363457009
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:189.1
database_cross_reference: ICD10CM:C65
database_cross_reference: NCI:C7525
has_alternative_id: DOID:12343
database_cross_reference: UMLS_CUI:C1335749
id: DOID:4919
database_cross_reference: UMLS_CUI:C0153618
has_exact_synonym: carcinoma of kidney Pelvis
has_exact_synonym: malignant neoplasm of renal pelvis
has_exact_synonym: malignant renal Pelvis neoplasm
has_exact_synonym: malignant tumor of renal pelvis
has_exact_synonym: renal pelvis cancer
in_subset: NCIthesaurus
imported from: doid.owl

eccrine sweat gland cancer
type: Class
subclass of: sweat gland cancer
database_cross_reference: UMLS_CUI:C1334577
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5559
id: DOID:4921
has_exact_synonym: malignant Eccrine tumor
has_exact_synonym: malignant eccrine skin neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

thymus adenocarcinoma
type: Class
subclass of: adenocarcinoma
subclass of: thymic carcinoma
database_cross_reference: NCI:C6459
has_obo_namespace: disease_ontology
id: DOID:4923
definition: A thymic carcinoma that derives_from epithelial cells of glandular origin.
database_cross_reference: UMLS_CUI:C1336743
has_exact_synonym: adenocarcinoma of the Thymus
in_subset: NCIthesaurus
imported from: doid.owl

Klatskin's tumor
type: Class
subclass of: intrahepatic cholangiocarcinoma
database_cross_reference: GARD:10175
database_cross_reference: UMLS_CUI:C0206702
database_cross_reference: MESH:D018285
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C36077
database_cross_reference: SNOMEDCT_US_2020_03_01:253017000
id: DOID:4927
has_alternative_id: DOID:5246
definition: An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.
has_exact_synonym: Klatskin tumor
has_exact_synonym: Klatskin tumour
has_exact_synonym: Klatskin's tumour
has_exact_synonym: Perihilar extrahepatic bile duct carcinoma
has_exact_synonym: hilar cholangiocarcinoma
has_exact_synonym: hilar cholangiocellular carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

intrahepatic cholangiocarcinoma
type: Class
subclass of: cholangiocarcinoma
has_obo_namespace: disease_ontology
id: DOID:4928
database_cross_reference: ICD10CM:C22.1
database_cross_reference: SNOMEDCT_US_2020_03_01:109842005
database_cross_reference: NCI:C35417
database_cross_reference: GARD:6042
has_exact_synonym: Intrahepatic bile duct carcinoma
database_cross_reference: UMLS_CUI:C0345905
database_cross_reference: MESH:D018281
has_exact_synonym: peripheral Cholangiocarcinoma
in_subset: NCIthesaurus
imported from: doid.owl

ampulla of Vater carcinoma
type: Class
subclass of: ampulla of Vater cancer
subclass of: carcinoma
database_cross_reference: NCI:C3908
database_cross_reference: UMLS_CUI:C0262401
has_obo_namespace: disease_ontology
id: DOID:4932
database_cross_reference: SNOMEDCT_US_2020_03_01:254609000
definition: An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has_exact_synonym: ampulla of vater cancer
has_exact_synonym: ampullary carcinoma
has_exact_synonym: carcinoma of ampulla of vater
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

ureter carcinoma
type: Class
subclass of: ureter cancer
subclass of: carcinoma
has_obo_namespace: disease_ontology
id: DOID:4939
definition: An ureter cancer that is located_in the ureter.
database_cross_reference: UMLS_CUI:C0600079
database_cross_reference: NCI:C8993
has_exact_synonym: ureteral carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

adenocarcinoma in situ
type: Class
subclass of: in situ carcinoma
definition: An in situ carcinoma that derives_from epithelial cells of glandular origin.
database_cross_reference: NCI:C4123
has_obo_namespace: disease_ontology
id: DOID:4943
database_cross_reference: UMLS_CUI:C0334276
database_cross_reference: MESH:D065311
database_cross_reference: SNOMEDCT_US_2020_03_01:51642000
in_subset: NCIthesaurus
imported from: doid.owl

cholangiocarcinoma
type: Class
subclass of: bile duct adenocarcinoma
has_alternative_id: DOID:5249
database_cross_reference: NCI:C8265
definition: A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.
database_cross_reference: SNOMEDCT_US_2020_03_01:70179006
database_cross_reference: UMLS_CUI:C0280725
database_cross_reference: MESH:D018281
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4436
id: DOID:4947
database_cross_reference: ICD10CM:C22.1
database_cross_reference: UMLS_CUI:C0206698
has_exact_synonym: adult primary Cholangiocarcinoma
has_exact_synonym: adult primary cholangiocellular carcinoma
has_exact_synonym: cholangiosarcoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

gallbladder carcinoma
type: Class
subclass of: carcinoma
subclass of: gallbladder cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:255085003
database_cross_reference: UMLS_CUI:C0235782
has_obo_namespace: disease_ontology
id: DOID:4948
database_cross_reference: NCI:C3844
definition: A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has_exact_synonym: cancer of the gallbladder
has_exact_synonym: carcinoma gallbladder
has_exact_synonym: carcinoma of gallbladder
in_subset: NCIthesaurus
imported from: doid.owl

sclerosing hemangioma
type: Class
subclass of: hemangioma
database_cross_reference: UMLS_CUI:C1509148
id: DOID:495
database_cross_reference: SNOMEDCT_US_2020_03_01:134302009
has_exact_synonym: Sclerosing haemangioma
has_exact_synonym: Sclerosing hemangioma
has_obo_namespace: disease_ontology
imported from: doid.owl

poliomyelitis
type: Class
subclass of: peripheral nervous system disease
subclass of: viral infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:54839009
database_cross_reference: NCI:C35550
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A80
database_cross_reference: GARD:7413
database_cross_reference: UMLS_CUI:C0032371
database_cross_reference: ICD9CM:045
definition: A viral infectious disease that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis.
id: DOID:4953
database_cross_reference: MESH:D011051
in_subset: NCIthesaurus
imported from: doid.owl

spindle cell hemangioma
type: Class
subclass of: hemangioma
database_cross_reference: UMLS_CUI:C1304508
id: DOID:496
database_cross_reference: NCI:C4754
has_obo_namespace: disease_ontology
has_exact_synonym: SCH
database_cross_reference: SNOMEDCT_US_2020_03_01:128769003
in_subset: NCIthesaurus
imported from: doid.owl

bone marrow cancer
type: Class
subclass of: hematologic cancer
subclass of: bone marrow disease
definition: A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
database_cross_reference: SNOMEDCT_US_2020_03_01:128925001
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027022
has_alternative_id: DOID:2356
id: DOID:4960
database_cross_reference: ICD10CM:D47.1
has_alternative_id: DOID:2761
database_cross_reference: EFO:0004251
database_cross_reference: MESH:D009196
has_exact_synonym: bone Marrow tumor
has_exact_synonym: bone marrow neoplasm
has_exact_synonym: malignant bone Marrow tumor
has_exact_synonym: malignant neoplasm of bone marrow
imported from: doid.owl

bone marrow disease
type: Class
subclass of: hematopoietic system disease
database_cross_reference: UMLS_CUI:C0005956
database_cross_reference: NCI:C34433
database_cross_reference: SNOMEDCT_US_2020_03_01:127035006
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D001855
id: DOID:4961
has_exact_synonym: bone marrow disorder
in_subset: NCIthesaurus
imported from: doid.owl

neurotic disorder
type: Class
subclass of: anxiety disorder
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:F34.1
has_alternative_id: DOID:9687
database_cross_reference: SNOMEDCT_US_2020_03_01:87414006
database_cross_reference: NCI:C34533
database_cross_reference: UMLS_CUI:C0282126
database_cross_reference: NCI:C35369
id: DOID:4964
database_cross_reference: UMLS_CUI:C0011579
has_alternative_id: DOID:6342
database_cross_reference: UMLS_CUI:C0027932
database_cross_reference: ICD10CM:F48.9
database_cross_reference: MESH:D009497
database_cross_reference: MESH:D000275
database_cross_reference: NCI:C34848
database_cross_reference: MESH:D003866
definition: An anxiety disorder that involves discress but neither delusions nor hallucinations.
has_exact_synonym: Neurotic depression reactive type
has_exact_synonym: Neurotic depressive state
has_exact_synonym: Psychoneurosis
database_cross_reference: SNOMEDCT_US_2020_03_01:154881002
database_cross_reference: SNOMEDCT_US_2020_03_01:78667006
has_exact_synonym: depressive neurosis
has_exact_synonym: neurosis
has_exact_synonym: neurotic depression
has_exact_synonym: reactive depression
in_subset: NCIthesaurus
imported from: doid.owl

Nelson syndrome
type: Class
subclass of: adrenal cortex disease
database_cross_reference: NCI:C84917
database_cross_reference: SNOMEDCT_US_2020_03_01:43019009
database_cross_reference: MESH:D009347
database_cross_reference: ICD10CM:E24.1
has_exact_synonym: Nelson's syndrome
database_cross_reference: UMLS_CUI:C0027577
database_cross_reference: GARD:7170
id: DOID:4968
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

prosopagnosia
type: Class
subclass of: agnosia
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:R48.3
id: DOID:4970
database_cross_reference: NCI:C85031
database_cross_reference: SNOMEDCT_US_2020_03_01:18358003
database_cross_reference: MESH:D020238
definition: An agnosia that results in the loss of the ability to consciously recognize familiar faces.
database_cross_reference: UMLS_CUI:C0234512
in_subset: NCIthesaurus
imported from: doid.owl

myelofibrosis
type: Class
subclass of: myeloid neoplasm
database_cross_reference: ICD9CM:289.83
database_cross_reference: OMIM:254450
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D47.4
id: DOID:4971
database_cross_reference: SNOMEDCT_US_2020_03_01:128843003
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C2862
database_cross_reference: GARD:8618
has_alternative_id: DOID:5737
database_cross_reference: MESH:D055728
definition: A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.
has_exact_synonym: Aleukemic myelosis
database_cross_reference: UMLS_CUI:C0026987
database_cross_reference: SNOMEDCT_US_2020_03_01:267572005
database_cross_reference: UMLS_CUI:C0001815
database_cross_reference: ICD10CM:D75.81
database_cross_reference: NCI:C3248
database_cross_reference: ICD9CM:238.76
has_exact_synonym: Agnogenic myeloid metaplasia
has_exact_synonym: Megakaryocytic myelosclerosis
has_exact_synonym: bone Marrow Fibrosis
has_exact_synonym: myelosclerosis
has_exact_synonym: primary myelofibrosis
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

myelodysplastic/myeloproliferative neoplasm
type: Class
subclass of: myeloid neoplasm
database_cross_reference: NCI:C27262
database_cross_reference: MESH:D054437
definition: A myeloid neoplasm that results_in the overproduction of white blood cells.
database_cross_reference: SNOMEDCT_US_2020_03_01:445738007
has_obo_namespace: disease_ontology
id: DOID:4972
has_alternative_id: DOID:6470
has_exact_synonym: Myeloproliferative/Myelodysplastic syndromes
database_cross_reference: UMLS_CUI:C1301355
has_exact_synonym: myelodysplastic myeloproliferative cancer
has_related_synonym: myelodysplastic myeloproliferative disease
in_subset: NCIthesaurus
imported from: doid.owl

actinobacillosis
type: Class
subclass of: commensal bacterial infectious disease
subclass of: respiratory system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:16140007
database_cross_reference: UMLS_CUI:C0001247
database_cross_reference: MESH:D000187
has_obo_namespace: disease_ontology
definition: A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media.
id: DOID:4974
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

elephantiasis
type: Class
subclass of: lymphedema
database_cross_reference: NCI:C34569
has_obo_namespace: disease_ontology
id: DOID:4976
database_cross_reference: MESH:D004604
has_exact_synonym: Elephantiasis
database_cross_reference: SNOMEDCT_US_2020_03_01:155485008
database_cross_reference: UMLS_CUI:C0013882
in_subset: NCIthesaurus
imported from: doid.owl

lymphedema
type: Class
subclass of: lymphatic system disease
has_exact_synonym: Lymphoedema
database_cross_reference: UMLS_CUI:C0024236
database_cross_reference: NCI:C3207
has_obo_namespace: disease_ontology
id: DOID:4977
database_cross_reference: SNOMEDCT_US_2020_03_01:266334008
database_cross_reference: MESH:D008209
has_exact_synonym: Lymphatic edema
in_subset: NCIthesaurus
imported from: doid.owl

alcoholic pancreatitis
type: Class
subclass of: pancreatitis
id: DOID:4988
database_cross_reference: SNOMEDCT_US_2020_03_01:445507008
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0376670
database_cross_reference: MESH:D019512
imported from: doid.owl

pancreatitis
type: Class
subclass of: pancreas disease
database_cross_reference: ICD10CM:K85.9
database_cross_reference: EFO:0000278
database_cross_reference: OMIM:167800
database_cross_reference: NCI:C3306
database_cross_reference: SNOMEDCT_US_2020_03_01:393591004
database_cross_reference: MESH:D010195
database_cross_reference: UMLS_CUI:C0030305
id: DOID:4989
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

essential tremor
type: Class
subclass of: movement disease
database_cross_reference: ORDO:862
definition: A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
database_cross_reference: GARD:5910
comment: Xref MGI.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020329
id: DOID:4990
database_cross_reference: ICD10CM:G25.0
database_cross_reference: UMLS_CUI:C0270736
database_cross_reference: OMIM:PS190300
database_cross_reference: SNOMEDCT_US_2020_03_01:192839001
has_exact_synonym: benign essential tremor
has_exact_synonym: essential hereditary tremor
has_exact_synonym: shaky hand syndrome
in_subset: DO rare slim
imported from: doid.owl

optic nerve glioma
type: Class
subclass of: brain glioma
subclass of: optic nerve neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020339
id: DOID:4992
database_cross_reference: GARD:4107
database_cross_reference: SNOMEDCT_US_2020_03_01:254976006
database_cross_reference: UMLS_CUI:C0346326
database_cross_reference: NCI:C4537
has_exact_synonym: glioma of the optic nerve
in_subset: NCIthesaurus
imported from: doid.owl

Camurati-Engelmann disease
type: Class
subclass of: monogenic disease
subclass of: osteosclerosis
has_obo_namespace: disease_ontology
has_exact_synonym: Diaphyseal dysplasia
database_cross_reference: OMIM:131300
database_cross_reference: UMLS_CUI:C0011989
id: DOID:4997
database_cross_reference: MESH:D003966
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
has_exact_synonym: Engelman's disease
database_cross_reference: OMIM:606631
database_cross_reference: ICD10CM:Q78.3
database_cross_reference: SNOMEDCT_US_2020_03_01:34643004
database_cross_reference: GARD:1072
database_cross_reference: NCI:C84610
has_exact_synonym: progressive diaphyseal dysplasia
in_subset: NCIthesaurus
imported from: doid.owl

thyroid gland disease
type: Class
subclass of: endocrine system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:14304000
database_cross_reference: UMLS_CUI:C0040128
database_cross_reference: MESH:D013959
has_obo_namespace: disease_ontology
id: DOID:50
database_cross_reference: ICD10CM:E07.9
definition: An endocrine system disease that is located_in the thyroid.
database_cross_reference: ICD9CM:246.9
database_cross_reference: NCI:C26893
in_subset: NCIthesaurus
imported from: doid.owl

fibrolamellar carcinoma
type: Class
subclass of: hepatocellular carcinoma
database_cross_reference: UMLS_CUI:C0334287
has_exact_synonym: Fibrolamellar hepatocellular carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:15619004
has_obo_namespace: disease_ontology
definition: A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.
database_cross_reference: MESH:C537258
has_exact_synonym: Hepatocellular carcinoma, fibrolamellar
database_cross_reference: NCI:C4131
id: DOID:5015
has_exact_synonym: Oncocytic Hepatocellular tumor
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

central nervous system mesenchymal non-meningothelial tumor
type: Class
subclass of: central nervous system cancer
id: DOID:502
has_obo_namespace: disease_ontology
definition: A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm.
has_exact_synonym: Non-meningothelial mesenchymal tumor
has_exact_synonym: Non-meningothelial mesenchymal tumour
has_exact_synonym: central nervous system mesenchymal non-meningothelial tumour
imported from: doid.owl

pineal gland cancer
type: Class
subclass of: endocrine gland cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:127026004
database_cross_reference: MESH:D010871
database_cross_reference: ICD10CM:C75.3
database_cross_reference: UMLS_CUI:C0031941
database_cross_reference: NCI:C3328
id: DOID:5032
has_obo_namespace: disease_ontology
definition: An endocrine gland located_in the pineal gland located in the brain.
database_cross_reference: UMLS_CUI:C1412004
database_cross_reference: ICD9CM:194.4
has_alternative_id: DOID:1662
database_cross_reference: NCI:C6965
has_alternative_id: DOID:4859
has_exact_synonym: Pinealoma
has_exact_synonym: Pineocytic tumor
database_cross_reference: SNOMEDCT_US_2020_03_01:93962006
database_cross_reference: NCI:C3573
database_cross_reference: UMLS_CUI:C0153655
has_exact_synonym: malignant Pineal Region tumor
has_exact_synonym: malignant tumor of pineal gland
has_exact_synonym: neoplasm of pineal gland
has_exact_synonym: neoplasm of the Pineal Region
has_exact_synonym: pineal body neoplasm
has_exact_synonym: tumor of the pineal region
in_subset: NCIthesaurus
imported from: doid.owl

myoblastoma
type: Class
subclass of: muscle benign neoplasm
id: DOID:5039
database_cross_reference: UMLS_CUI:C0027043
database_cross_reference: MESH:D009379
database_cross_reference: NCI:C3252
has_exact_synonym: benign granular cell tumor
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

esophageal cancer
type: Class
subclass of: gastrointestinal system cancer
subclass of: esophageal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:126817006
database_cross_reference: SNOMEDCT_US_2020_03_01:93877002
database_cross_reference: UMLS_CUI:C0153415
database_cross_reference: OMIM:133239
database_cross_reference: UMLS_CUI:C0153416
database_cross_reference: UMLS_CUI:C0153413
database_cross_reference: NCI:C4764
database_cross_reference: UMLS_CUI:C0153414
has_obo_namespace: disease_ontology
definition: A gastrointestinal system cancer that is located_in the esophagus.
has_exact_synonym: Ca lower third oesophagus
id: DOID:5041
database_cross_reference: ICD10CM:C15.5
has_alternative_id: DOID:10292
database_cross_reference: MESH:D004938
database_cross_reference: GARD:6383
has_alternative_id: DOID:10291
database_cross_reference: SNOMEDCT_US_2020_03_01:93656003
has_alternative_id: DOID:10448
database_cross_reference: NCI:C3534
database_cross_reference: NCI:C3533
has_alternative_id: DOID:1102
database_cross_reference: NCI:C3535
database_cross_reference: SNOMEDCT_US_2020_03_01:94119000
database_cross_reference: UMLS_CUI:C0496775
has_alternative_id: DOID:1104
database_cross_reference: UMLS_CUI:C0014859
database_cross_reference: NCI:C3028
database_cross_reference: ICD10CM:C15.4
database_cross_reference: ICD10CM:C15.3
database_cross_reference: SNOMEDCT_US_2020_03_01:187729008
has_exact_synonym: Ca middle third oesophagus
database_cross_reference: SNOMEDCT_US_2020_03_01:93895004
database_cross_reference: ICD9CM:150.8
database_cross_reference: ICD9CM:150.3
database_cross_reference: ICD9CM:150.2
database_cross_reference: ICD9CM:150.5
database_cross_reference: ICD9CM:150.4
has_exact_synonym: esophagus cancer
has_exact_synonym: malignant neoplasm of distal third of esophagus
has_exact_synonym: malignant neoplasm of lower third of oesophagus
has_exact_synonym: malignant neoplasm of middle third of oesophagus
has_exact_synonym: malignant neoplasm of proximal third of esophagus
has_exact_synonym: malignant neoplasm of upper third esophagus
has_exact_synonym: malignant tumor of Distal Third of esophagus
has_exact_synonym: malignant tumor of Proximal Third of esophagus
has_exact_synonym: malignant tumor of abdominal esophagus
has_exact_synonym: malignant tumor of the middle Third of the esophagus
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

malignant granular cell myoblastoma
type: Class
subclass of: skin cancer
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4336
database_cross_reference: SNOMEDCT_US_2020_03_01:404041003
id: DOID:5042
database_cross_reference: UMLS_CUI:C0334618
has_exact_synonym: granular cell tumor, malignant
has_exact_synonym: malignant granular cell neoplasm
has_exact_synonym: malignant granular cell tumor
in_subset: NCIthesaurus
imported from: doid.owl

Ehrlich tumor carcinoma
type: Class
subclass of: breast carcinoma
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0007125
database_cross_reference: MESH:D002286
id: DOID:5050
has_exact_synonym: Ehrlich tumour carcinoma
has_exact_synonym: Ehrlich's tumor
has_exact_synonym: Ehrlich's tumour
imported from: doid.owl

melioidosis
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: ICD9CM:025
database_cross_reference: SNOMEDCT_US_2020_03_01:428111003
database_cross_reference: GARD:9546
database_cross_reference: UMLS_CUI:C0025229
database_cross_reference: NCI:C128336
database_cross_reference: MESH:D008554
id: DOID:5052
has_alternative_id: DOID:0050062
has_alternative_id: DOID:0050064
definition: A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A24.9
has_exact_synonym: Nightcliff gardener's disease
has_exact_synonym: Pseudoglanders
has_exact_synonym: Whitmore's disease
has_exact_synonym: acute and fulminating melioidosis
has_exact_synonym: subacute and chronic melioidosis
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

phencyclidine abuse
type: Class
subclass of: substance abuse
database_cross_reference: UMLS_CUI:C0031391
id: DOID:5062
database_cross_reference: SNOMEDCT_US_2020_03_01:7071007
definition: A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D010623
has_exact_synonym: PCP abuse
has_exact_synonym: Phencyclidine abuse
imported from: doid.owl

adjustment disorder
type: Class
subclass of: disease of mental health
id: DOID:507
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0040701
database_cross_reference: SNOMEDCT_US_2020_03_01:17226007
definition: A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred.
database_cross_reference: ICD9CM:309
has_exact_synonym: adjustment disease
has_exact_synonym: adjustment reaction
imported from: doid.owl

malignant ependymoma
type: Class
subclass of: carcinoma
subclass of: cerebral ventricle cancer
definition: A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain.
database_cross_reference: NCI:C6770
has_alternative_id: DOID:0060107
has_obo_namespace: disease_ontology
id: DOID:5074
has_exact_synonym: Ependymal neoplasm
database_cross_reference: UMLS_CUI:C1333407
has_exact_synonym: ependymal tumors
in_subset: NCIthesaurus
imported from: doid.owl

mixed glioma
type: Class
subclass of: malignant glioma
database_cross_reference: SNOMEDCT_US_2020_03_01:443937008
database_cross_reference: NCI:C3903
database_cross_reference: MESH:D005910
database_cross_reference: UMLS_CUI:C0259783
id: DOID:5076
has_obo_namespace: disease_ontology
has_exact_synonym: mixed Neuroglial tumor
has_exact_synonym: mixed gliomas
in_subset: NCIthesaurus
imported from: doid.owl

subependymal giant cell astrocytoma
type: Class
subclass of: subependymal glioma
database_cross_reference: MESH:D001254
id: DOID:5077
has_obo_namespace: disease_ontology
database_cross_reference: GARD:10632
database_cross_reference: NCI:C3696
has_exact_synonym: SEGA
database_cross_reference: SNOMEDCT_US_2020_03_01:449799008
has_exact_synonym: Subependymal giant cell astrocytoma
database_cross_reference: UMLS_CUI:C0205768
in_subset: NCIthesaurus
imported from: doid.owl

ganglioglioma
type: Class
subclass of: cell type benign neoplasm
subclass of: central nervous system benign neoplasm
id: DOID:5078
database_cross_reference: SNOMEDCT_US_2020_03_01:87191000119100
database_cross_reference: GARD:2430
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3788
has_alternative_id: DOID:5606
definition: A cell type benign neoplasm that has_material_basis_in glial-type cells.
database_cross_reference: UMLS_CUI:C1332969
has_alternative_id: DOID:5607
has_exact_synonym: CNS ganglioglioma
database_cross_reference: MESH:D018303
database_cross_reference: UMLS_CUI:C1332202
database_cross_reference: NCI:C27362
database_cross_reference: NCI:C27363
database_cross_reference: UMLS_CUI:C0206716
has_exact_synonym: adult ganglioglioma
has_exact_synonym: childhood ganglioglioma
in_subset: NCIthesaurus
imported from: doid.owl

liver cirrhosis
type: Class
subclass of: liver disease
has_exact_synonym: Cirrhosis
database_cross_reference: UMLS_CUI:C0023890
database_cross_reference: EFO:0001422
id: DOID:5082
database_cross_reference: SNOMEDCT_US_2020_03_01:19943007
database_cross_reference: ICD10CM:K74.60
database_cross_reference: MESH:D008103
database_cross_reference: NCI:C2951
has_exact_synonym: cirrhosis of liver
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

thoracic cancer
type: Class
subclass of: organ system cancer
subclass of: thoracic disease
has_alternative_id: DOID:3937
database_cross_reference: NCI:C3406
definition: An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall.
database_cross_reference: SNOMEDCT_US_2020_03_01:188361007
id: DOID:5093
database_cross_reference: MESH:D013899
database_cross_reference: ICD9CM:195.1
database_cross_reference: UMLS_CUI:C0039981
database_cross_reference: SNOMEDCT_US_2020_03_01:255058005
database_cross_reference: NCI:C3576
database_cross_reference: UMLS_CUI:C0153661
database_cross_reference: ICD10CM:C76.1
has_exact_synonym: Thoracic tumor
has_obo_namespace: disease_ontology
has_exact_synonym: thorax cancer
has_exact_synonym: thorax neoplasm
has_exact_synonym: tumor of thorax
in_subset: NCIthesaurus
imported from: doid.owl

middle ear disease
type: Class
subclass of: auditory system disease
id: DOID:5100
database_cross_reference: SNOMEDCT_US_2020_03_01:155260002
database_cross_reference: UMLS_CUI:C0271428
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C27065
in_subset: NCIthesaurus
imported from: doid.owl

ear cancer
type: Class
subclass of: auditory system cancer
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004428
has_exact_synonym: auricular cancer
id: DOID:5101
has_exact_synonym: malignant ear neoplasm
database_cross_reference: UMLS_CUI:C0751094
has_exact_synonym: malignant tumor of ear
imported from: doid.owl

copper deficiency myelopathy
type: Class
subclass of: nutritional deficiency disease
database_cross_reference: SNOMEDCT_US_2020_03_01:78714004
has_obo_namespace: disease_ontology
definition: A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion.
database_cross_reference: UMLS_CUI:C0038981
id: DOID:5112
database_cross_reference: MESH:D013540
has_exact_synonym: human swayback
imported from: doid.owl

nutritional deficiency disease
type: Class
subclass of: nutrition disease
definition: A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
database_cross_reference: UMLS_CUI:C0011156
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D003677
id: DOID:5113
imported from: doid.owl

leiomyoma cutis
type: Class
subclass of: dermis tumor
database_cross_reference: UMLS_CUI:C0346064
has_obo_namespace: disease_ontology
has_exact_synonym: Cutaneous leiomyoma
database_cross_reference: SNOMEDCT_US_2020_03_01:254767008
id: DOID:5132
database_cross_reference: NCI:C4482
has_exact_synonym: leiomyoma of the skin
in_subset: NCIthesaurus
imported from: doid.owl

leiomyomatosis
type: Class
subclass of: leiomyoma
definition: A leiomyoma that is multiple and diffuse.
id: DOID:5138
database_cross_reference: SNOMEDCT_US_2020_03_01:75210008
database_cross_reference: MESH:D018231
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3748
database_cross_reference: UMLS_CUI:C0206654
in_subset: NCIthesaurus
imported from: doid.owl

vulvar leiomyoma
type: Class
subclass of: vulvar benign neoplasm
definition: A vulvar benign neoplasm that is located_in smooth muscle cells.
id: DOID:5142
database_cross_reference: UMLS_CUI:C1520087
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C40326
in_subset: NCIthesaurus
imported from: doid.owl

borna disease
type: Class
subclass of: central nervous system disease
subclass of: viral infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0006023
id: DOID:5154
has_exact_synonym: Enzootic encephalomyelitis
database_cross_reference: SNOMEDCT_US_2020_03_01:76851008
database_cross_reference: MESH:D001890
definition: A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.
in_subset: zoonotic infectious disease
imported from: doid.owl

pleural cancer
type: Class
subclass of: connective tissue cancer
id: DOID:5158
database_cross_reference: NCI:C3332
database_cross_reference: ICD10CM:C38.4
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:126719004
database_cross_reference: ICD9CM:163
database_cross_reference: NCI:C3547
database_cross_reference: UMLS_CUI:C0153494
database_cross_reference: MESH:D010997
database_cross_reference: SNOMEDCT_US_2020_03_01:363433009
definition: A connective tissue cancer that located_in the pleura.
has_alternative_id: DOID:9917
database_cross_reference: UMLS_CUI:C0032229
has_exact_synonym: Pleural tumor
has_exact_synonym: neoplasm of pleura
in_subset: NCIthesaurus
imported from: doid.owl

arteriosclerosis obliterans
type: Class
subclass of: arteriosclerosis
database_cross_reference: SNOMEDCT_US_2020_03_01:60625000
has_obo_namespace: disease_ontology
has_exact_synonym: Arteriosclerosis obliterans
id: DOID:5160
database_cross_reference: MESH:D001162
database_cross_reference: UMLS_CUI:C0003851
imported from: doid.owl

arteriolosclerosis
type: Class
subclass of: arteriosclerosis
has_exact_synonym: Arteriolosclerosis
database_cross_reference: MESH:D050379
id: DOID:5162
database_cross_reference: SNOMEDCT_US_2020_03_01:17941002
definition: An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia.
database_cross_reference: ICD10CM:I70
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0878486
database_cross_reference: NCI:C35543
in_subset: NCIthesaurus
imported from: doid.owl

endometrial stromal tumor
type: Class
subclass of: endometrial cancer
database_cross_reference: UMLS_CUI:C0334695
id: DOID:5166
database_cross_reference: SNOMEDCT_US_2020_03_01:68738004
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D036821
has_exact_synonym: endometrial Stromal neoplasm
imported from: doid.owl

hereditary Wilms' tumor
type: Class
subclass of: nephroblastoma
has_obo_namespace: disease_ontology
definition: A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour.
database_cross_reference: UMLS_CUI:C0677779
id: DOID:5183
has_exact_synonym: Hereditary Wilms tumor
has_exact_synonym: Hereditary Wilms tumour
database_cross_reference: NCI:C8496
has_exact_synonym: WT1
has_related_synonym: hereditary Wilms' tumor
has_exact_synonym: hereditary Wilms' tumour
in_subset: NCIthesaurus
imported from: doid.owl

aortitis
type: Class
subclass of: aortic disease
database_cross_reference: SNOMEDCT_US_2020_03_01:195368003
has_obo_namespace: disease_ontology
id: DOID:519
database_cross_reference: NCI:C97085
database_cross_reference: UMLS_CUI:C0003509
database_cross_reference: MESH:D001025
database_cross_reference: ICD10CM:I77.6
in_subset: NCIthesaurus
imported from: doid.owl

ureteral obstruction
type: Class
subclass of: ureteral disease
subclass of: urinary tract obstruction
database_cross_reference: SNOMEDCT_US_2020_03_01:197807001
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:593.4
id: DOID:5199
database_cross_reference: UMLS_CUI:C0029866
imported from: doid.owl

aortic disease
type: Class
subclass of: artery disease
database_cross_reference: MESH:D001018
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C101253
id: DOID:520
database_cross_reference: UMLS_CUI:C0003493
definition: An artery disease that is characterized by degeneration of the cells composing the aortic wall.
database_cross_reference: SNOMEDCT_US_2020_03_01:47040006
has_exact_synonym: aortic disorder
has_exact_synonym: disorder of the aorta
in_subset: NCIthesaurus
imported from: doid.owl

urinary tract obstruction
type: Class
subclass of: urinary system disease
database_cross_reference: ICD9CM:599.6
database_cross_reference: SNOMEDCT_US_2020_03_01:7163005
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C79805
database_cross_reference: UMLS_CUI:C0178879
database_cross_reference: ICD10CM:N13.9
id: DOID:5200
has_exact_synonym: Obstructive Uropathy
has_exact_synonym: urinary obstruction
in_subset: NCIthesaurus
imported from: doid.owl

fructose-1,6-bisphosphatase deficiency
type: Class
subclass of: carbohydrate metabolic disorder
database_cross_reference: ICD10CM:E74.19
database_cross_reference: NCI:C128119
definition: A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.
id: DOID:5204
database_cross_reference: GARD:2400
database_cross_reference: UMLS_CUI:C0016756
database_cross_reference: SNOMEDCT_US_2020_03_01:28183005
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:229700
database_cross_reference: MESH:D015319
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: fructose 1 phosphate aldolase deficiency
has_exact_synonym: fructose-1,6-diphosphatase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

monodermal teratoma
type: Class
subclass of: ovarian germ cell teratoma
definition: An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm).
database_cross_reference: NCI:C7286
database_cross_reference: SNOMEDCT_US_2020_03_01:399632009
id: DOID:5207
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1302569
has_exact_synonym: Ovarian Monodermal teratoma
in_subset: NCIthesaurus
imported from: doid.owl

congenital disorder of glycosylation
type: Class
subclass of: physical disorder
subclass of: carbohydrate metabolic disorder
database_cross_reference: MESH:D018981
database_cross_reference: SNOMEDCT_US_2020_03_01:238049009
definition: A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
database_cross_reference: GARD:10307
database_cross_reference: NCI:C84615
database_cross_reference: OMIM:PS212065
database_cross_reference: UMLS_CUI:C0282577
database_cross_reference: ORDO:137
id: DOID:5212
comment: Xref MGI.
has_exact_synonym: carbohydrate-deficient glycoprotein syndrome
has_obo_namespace: disease_ontology
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

chronic inflammatory demyelinating polyradiculoneuropathy
type: Class
subclass of: autoimmune disease of peripheral nervous system
database_cross_reference: SNOMEDCT_US_2020_03_01:128209004
database_cross_reference: ICD9CM:357.81
database_cross_reference: ICD10CM:G61.81
database_cross_reference: NCI:C84636
id: DOID:5213
database_cross_reference: MESH:D020277
definition: An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers.
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6102
database_cross_reference: UMLS_CUI:C0393819
in_subset: NCIthesaurus
imported from: doid.owl

demyelinating polyneuropathy
type: Class
subclass of: polyneuropathy
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:23414001
database_cross_reference: UMLS_CUI:C0270922
database_cross_reference: NCI:C27062
id: DOID:5214
has_exact_synonym: peripheral demyelinating neuropathy
in_subset: NCIthesaurus
imported from: doid.owl

chronic polyneuropathy
type: Class
subclass of: polyneuropathy
has_obo_namespace: disease_ontology
id: DOID:5221
database_cross_reference: NCI:C36071
database_cross_reference: UMLS_CUI:C1167650
in_subset: NCIthesaurus
imported from: doid.owl

acute necrotizing encephalitis
type: Class
subclass of: encephalitis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:111897007
database_cross_reference: NCI:C35383
database_cross_reference: MESH:D004684
database_cross_reference: UMLS_CUI:C0338418
id: DOID:5222
in_subset: NCIthesaurus
imported from: doid.owl

infertility
type: Class
subclass of: reproductive system disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0021359
id: DOID:5223
database_cross_reference: NCI:C3836
database_cross_reference: SNOMEDCT_US_2020_03_01:8619003
database_cross_reference: MESH:D007246
in_subset: NCIthesaurus
imported from: doid.owl

hepatoerythropoietic porphyria
type: Class
subclass of: acute porphyria
database_cross_reference: ORDO:95159
has_obo_namespace: disease_ontology
id: DOID:5230
database_cross_reference: UMLS_CUI:C0162569
database_cross_reference: NCI:C84754
database_cross_reference: SNOMEDCT_US_2020_03_01:111386004
database_cross_reference: MESH:D017121
database_cross_reference: GARD:6169
in_subset: NCIthesaurus
imported from: doid.owl

benign perivascular tumor
type: Class
subclass of: cardiovascular organ benign neoplasm
database_cross_reference: UMLS_CUI:C1332532
database_cross_reference: NCI:C6529
has_obo_namespace: disease_ontology
id: DOID:5238
in_subset: NCIthesaurus
imported from: doid.owl

hemangioblastoma
type: Class
subclass of: hemangioma
database_cross_reference: SNOMEDCT_US_2020_03_01:81201000
has_obo_namespace: disease_ontology
has_exact_synonym: Capillary Hemangioblastoma
id: DOID:5241
database_cross_reference: GARD:8522
database_cross_reference: GARD:8232
database_cross_reference: UMLS_CUI:C0206734
database_cross_reference: MESH:D018325
database_cross_reference: NCI:C3801
in_subset: NCIthesaurus
imported from: doid.owl

human immunodeficiency virus infectious disease
type: Class
subclass of: viral infectious disease
has_obo_namespace: disease_ontology
definition: A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.
database_cross_reference: ICD9CM:042-042.99
database_cross_reference: NCI:C3108
database_cross_reference: SNOMEDCT_US_2020_03_01:86406008
database_cross_reference: MESH:D015658
id: DOID:526
has_exact_synonym: HIV infection
database_cross_reference: UMLS_CUI:C0019693
database_cross_reference: ICD10CM:B20
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

small intestinal sarcoma
type: Class
subclass of: small intestine cancer
id: DOID:5272
definition: A sarcoma and malignant tumor of small intestine that is located_in the small intestine.
database_cross_reference: UMLS_CUI:C1336007
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5335
has_exact_synonym: sarcoma of the Small Intestine
in_subset: NCIthesaurus
imported from: doid.owl

hydrarthrosis
type: Class
subclass of: arthropathy
database_cross_reference: SNOMEDCT_US_2020_03_01:156579009
database_cross_reference: ICD9CM:719.08
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0158157
id: DOID:528
imported from: doid.owl

prostate leiomyosarcoma
type: Class
subclass of: prostate sarcoma
has_obo_namespace: disease_ontology
definition: A prostate sarcoma that is located_in the prostate.
database_cross_reference: UMLS_CUI:C1335511
id: DOID:5282
database_cross_reference: NCI:C5526
has_exact_synonym: leiomyosarcoma of the prostate
in_subset: NCIthesaurus
imported from: doid.owl

retroperitoneal leiomyosarcoma
type: Class
subclass of: retroperitoneal sarcoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C27904
id: DOID:5284
in_subset: NCIthesaurus
imported from: doid.owl

breast leiomyosarcoma
type: Class
subclass of: breast sarcoma
has_obo_namespace: disease_ontology
definition: A breast sarcoma that arises from smooth muscle cells.
database_cross_reference: NCI:C5186
id: DOID:5285
database_cross_reference: UMLS_CUI:C1332631
has_exact_synonym: leiomyosarcoma of the breast
in_subset: NCIthesaurus
imported from: doid.owl

kidney leiomyosarcoma
type: Class
subclass of: kidney sarcoma
database_cross_reference: UMLS_CUI:C1335743
has_obo_namespace: disease_ontology
id: DOID:5287
definition: A leiomyosarcoma and sarcoma of kidney that is located_in the kidney.
database_cross_reference: NCI:C6183
has_exact_synonym: leiomyosarcoma of kidney
in_subset: NCIthesaurus
imported from: doid.owl

blepharospasm
type: Class
subclass of: focal dystonia
database_cross_reference: UMLS_CUI:C0005747
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D001764
id: DOID:529
database_cross_reference: ICD9CM:333.81
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C118723
database_cross_reference: SNOMEDCT_US_2020_03_01:155009007
definition: A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
database_cross_reference: ICD10CM:G24.5
database_cross_reference: GARD:5909
in_subset: NCIthesaurus
imported from: doid.owl

intestinal disease
type: Class
subclass of: gastrointestinal system disease
database_cross_reference: ICD10CM:K63.9
database_cross_reference: ICD9CM:569.9
has_alternative_id: DOID:8591
has_alternative_id: DOID:8558
id: DOID:5295
has_alternative_id: DOID:10759
database_cross_reference: NCI:C26801
has_alternative_id: DOID:8531
database_cross_reference: MESH:D007410
has_alternative_id: DOID:11789
database_cross_reference: SNOMEDCT_US_2020_03_01:266483008
definition: A gastrointestinal system disease that is located_in the intestine.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:11222
database_cross_reference: UMLS_CUI:C0021831
in_subset: NCIthesaurus
imported from: doid.owl

pituitary gland disease
type: Class
subclass of: endocrine system disease
has_alternative_id: DOID:2445
has_alternative_id: DOID:8713
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029493
has_alternative_id: DOID:8714
definition: An endocrine system disease that is located_in the pituitary gland.
id: DOID:53
database_cross_reference: ICD9CM:253.1
has_exact_synonym: pituitary disease
imported from: doid.owl

eyelid disease
type: Class
subclass of: skin disease
database_cross_reference: MESH:D005141
database_cross_reference: ICD9CM:374.9
id: DOID:530
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:60113004
database_cross_reference: NCI:C26768
database_cross_reference: UMLS_CUI:C0015423
database_cross_reference: ICD10CM:H02.9
definition: An adnexa disease that is located_in the eyelid.
in_subset: NCIthesaurus
imported from: doid.owl

ovarian clear cell adenocarcinoma
type: Class
subclass of: ovary adenocarcinoma
definition: A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
database_cross_reference: UMLS_CUI:C1518693
database_cross_reference: NCI:C40078
database_cross_reference: SNOMEDCT_US_2020_03_01:763131005
id: DOID:5304
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

epithelial-myoepithelial carcinoma
type: Class
subclass of: salivary gland cancer
database_cross_reference: NCI:C4199
database_cross_reference: SNOMEDCT_US_2020_03_01:189722008
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0334392
id: DOID:5309
in_subset: NCIthesaurus
imported from: doid.owl

Roberts syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C535687
has_exact_synonym: SC phocomelia syndrome
has_alternative_id: DOID:0050536
database_cross_reference: OMIM:268300
database_cross_reference: SNOMEDCT_US_2020_03_01:48718006
id: DOID:5325
database_cross_reference: NCI:C4681
definition: A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in ESCO2 on chromosome 8p21.1.
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0392475
database_cross_reference: ORDO:3103
database_cross_reference: GARD:7387
has_exact_synonym: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
database_cross_reference: OMIM:269000
has_exact_synonym: RBS
in_subset: NCIthesaurus
imported from: doid.owl

retinal detachment
type: Class
subclass of: retinal disease
database_cross_reference: ICD10CM:H33.2
database_cross_reference: MESH:D012163
id: DOID:5327
database_cross_reference: UMLS_CUI:C0035305
database_cross_reference: SNOMEDCT_US_2020_03_01:155103005
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26874
database_cross_reference: ICD9CM:361.9
in_subset: NCIthesaurus
imported from: doid.owl

thymus gland disease
type: Class
subclass of: lymphatic system disease
has_alternative_id: DOID:11024
database_cross_reference: UMLS_CUI:C0154199
database_cross_reference: NCI:C26962
database_cross_reference: SNOMEDCT_US_2020_03_01:20673009
database_cross_reference: ICD9CM:254
id: DOID:533
database_cross_reference: ICD10CM:E32
has_exact_synonym: disease of thymus gland
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

dental pulp disease
type: Class
subclass of: tooth disease
subclass of: connective tissue disease
id: DOID:5330
database_cross_reference: MESH:D003788
database_cross_reference: SNOMEDCT_US_2020_03_01:57203004
database_cross_reference: UMLS_CUI:C0011405
has_exact_synonym: Dental pulp disorder
database_cross_reference: NCI:C34530
has_obo_namespace: disease_ontology
has_exact_synonym: disorder of pulp of tooth
has_exact_synonym: pulp disorder
in_subset: NCIthesaurus
imported from: doid.owl

testicular granulosa cell tumor
type: Class
subclass of: granulosa cell tumor
database_cross_reference: NCI:C6357
has_obo_namespace: disease_ontology
id: DOID:5331
has_exact_synonym: Granulosa cell tumor of testis
has_exact_synonym: Granulosa cell tumour of testis
database_cross_reference: UMLS_CUI:C1336709
has_exact_synonym: testicular granulosa cell tumour
in_subset: NCIthesaurus
imported from: doid.owl

epulis
type: Class
subclass of: gingival overgrowth
database_cross_reference: SNOMEDCT_US_2020_03_01:71708001
database_cross_reference: NCI:C3948
has_exact_synonym: Gingival polyp
has_obo_namespace: disease_ontology
id: DOID:5337
database_cross_reference: UMLS_CUI:C0266919
database_cross_reference: MESH:D005882
has_exact_synonym: epulides
has_exact_synonym: polyp of Gum
in_subset: NCIthesaurus
imported from: doid.owl

sleep disorder
type: Class
subclass of: disease of mental health
id: DOID:535
database_cross_reference: UMLS_CUI:C0154564
database_cross_reference: ICD9CM:307.4
definition: A disease of mental health that involves disruption of sleep patterns.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:9028
has_exact_synonym: Non-organic sleep disorder
in_subset: DO FlyBase slim
imported from: doid.owl

colonic disease
type: Class
subclass of: intestinal disease
database_cross_reference: MESH:D003108
definition: A intestinal disease located in the colon.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:128524007
id: DOID:5353
has_alternative_id: DOID:10758
database_cross_reference: UMLS_CUI:C0009373
has_exact_synonym: colon disorder
imported from: doid.owl

myxoid liposarcoma
type: Class
subclass of: liposarcoma
id: DOID:5363
database_cross_reference: UMLS_CUI:C0206634
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:613488
database_cross_reference: ORDO:99967
database_cross_reference: MESH:D018208
database_cross_reference: GARD:7157
has_exact_synonym: Myxoid/round cell liposarcoma
has_obo_namespace: disease_ontology
definition: A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations.
database_cross_reference: SNOMEDCT_US_2020_03_01:404069006
imported from: doid.owl

pulmonary coin lesion
type: Class
subclass of: lung benign neoplasm
has_exact_synonym: Coin lesion lung
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:R91.1
id: DOID:5364
has_exact_synonym: Coin lesion of lung
database_cross_reference: MESH:D003074
database_cross_reference: SNOMEDCT_US_2020_03_01:308689002
database_cross_reference: UMLS_CUI:C0009250
imported from: doid.owl

pilomatrixoma
type: Class
subclass of: hair follicle neoplasm
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:5374
database_cross_reference: UMLS_CUI:C0206711
database_cross_reference: NCI:C7368
has_alternative_id: DOID:5377
database_cross_reference: SNOMEDCT_US_2020_03_01:274901004
database_cross_reference: OMIM:132600
database_cross_reference: MESH:D018296
database_cross_reference: GARD:9452
has_exact_synonym: Pilomatricoma
has_exact_synonym: benign pilomatricoma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

hair follicle neoplasm
type: Class
subclass of: skin benign neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:44155009
database_cross_reference: UMLS_CUI:C0859920
has_obo_namespace: disease_ontology
id: DOID:5375
has_exact_synonym: Hair Matrix neoplasm
database_cross_reference: NCI:C7367
has_exact_synonym: Hair matrix tumour
in_subset: NCIthesaurus
imported from: doid.owl

skin pilomatrix carcinoma
type: Class
subclass of: skin carcinoma
database_cross_reference: UMLS_CUI:C0585475
database_cross_reference: NCI:C4114
database_cross_reference: SNOMEDCT_US_2020_03_01:307610008
has_obo_namespace: disease_ontology
id: DOID:5376
has_exact_synonym: Pilomatricoma, malignant
has_exact_synonym: Pilomatrix carcinoma of skin
has_exact_synonym: malignant Pilomatricoma
has_related_synonym: pilomatrix carcinoma of skin
in_subset: NCIthesaurus
imported from: doid.owl

hemoglobin E disease
type: Class
subclass of: hemoglobinopathy
database_cross_reference: GARD:2641
database_cross_reference: SNOMEDCT_US_2020_03_01:25065001
id: DOID:5379
database_cross_reference: ICD10CM:D58.2
database_cross_reference: UMLS_CUI:C0238159
has_exact_synonym: Hb-E disease
has_exact_synonym: Hemoglobin E disease
database_cross_reference: NCI:C35287
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

bile duct adenoma
type: Class
subclass of: biliary tract benign neoplasm
subclass of: bile duct disease
subclass of: adenoma
definition: A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma.
id: DOID:5381
database_cross_reference: UMLS_CUI:C0008309
has_exact_synonym: Cholangioadenoma
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D002759
database_cross_reference: NCI:C2942
database_cross_reference: SNOMEDCT_US_2020_03_01:39471001
in_subset: NCIthesaurus
imported from: doid.owl

lung adenoma
type: Class
subclass of: lung benign neoplasm
subclass of: adenoma
database_cross_reference: NCI:C4455
database_cross_reference: SNOMEDCT_US_2020_03_01:254642004
id: DOID:5386
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0345964
definition: A lung benign neoplasm that derives_from glandular epithelial cells.
has_exact_synonym: adenoma of lung
has_exact_synonym: pulmonary adenoma
in_subset: NCIthesaurus
imported from: doid.owl

middle ear adenoma
type: Class
subclass of: cell type benign neoplasm
subclass of: auditory system benign neoplasm
subclass of: middle ear disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1334759
database_cross_reference: NCI:C6834
database_cross_reference: SNOMEDCT_US_2020_03_01:734078009
id: DOID:5387
definition: A sensory organ benign neoplasm that is located_in the middle ear.
has_related_synonym: adenoma of middle ear
has_exact_synonym: adenoma of the middle ear
in_subset: NCIthesaurus
imported from: doid.owl

oxyphilic adenoma
type: Class
subclass of: endocrine organ benign neoplasm
database_cross_reference: UMLS_CUI:C1510502
database_cross_reference: SNOMEDCT_US_2020_03_01:89439007
id: DOID:5389
database_cross_reference: MESH:D018249
database_cross_reference: NCI:C3759
has_exact_synonym: Follicular adenoma, oxyphilic cell
has_exact_synonym: Oncocytoma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

ophthalmoplegia
type: Class
subclass of: ocular motility disease
has_alternative_id: DOID:10868
database_cross_reference: SNOMEDCT_US_2020_03_01:16110005
database_cross_reference: ICD9CM:378.56
database_cross_reference: SNOMEDCT_US_2020_03_01:78097002
has_exact_synonym: Total ophthalmoplegia
database_cross_reference: UMLS_CUI:C0155338
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C79697
database_cross_reference: UMLS_CUI:C0029089
database_cross_reference: MESH:D009886
id: DOID:539
has_exact_synonym: oculomotor paralysis
in_subset: NCIthesaurus
imported from: doid.owl

brain angioma
type: Class
subclass of: central nervous system benign neoplasm
subclass of: hemangioma
subclass of: cerebrovascular disease
database_cross_reference: NCI:C7739
database_cross_reference: UMLS_CUI:C0238814
id: DOID:5393
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

functioning pituitary adenoma
type: Class
subclass of: pituitary adenoma
id: DOID:5395
database_cross_reference: UMLS_CUI:C0854486
database_cross_reference: NCI:C8388
has_exact_synonym: Secretory adenoma of the Pituitary gland
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

lipoadenoma
type: Class
subclass of: adenoma
definition: An adenoma that is composed_of epithelial cells admixed with adipose tissue cells.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:22024005
id: DOID:5398
database_cross_reference: UMLS_CUI:C0334325
database_cross_reference: NCI:C4159
in_subset: NCIthesaurus
imported from: doid.owl

strabismus
type: Class
subclass of: ocular motility disease
subclass of: hyperopia
id: DOID:540
database_cross_reference: ICD10CM:H50.8
definition: A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.
database_cross_reference: UMLS_CUI:C0029831
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:194125000
database_cross_reference: ICD9CM:378.7
imported from: doid.owl

microcystic adenoma
type: Class
subclass of: cell type benign neoplasm
subclass of: pancreatic cystadenoma
database_cross_reference: MESH:D000236
database_cross_reference: UMLS_CUI:C0205648
definition: A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells.
id: DOID:5403
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:189580001
database_cross_reference: NCI:C3685
has_exact_synonym: Microcystic adenoma
in_subset: NCIthesaurus
imported from: doid.owl

Paget's disease of bone
type: Class
subclass of: spinal disease
subclass of: hyperostosis
database_cross_reference: NCI:C3292
database_cross_reference: ORDO:280110
database_cross_reference: UMLS_CUI:C0029401
database_cross_reference: OMIM:167250
id: DOID:5408
database_cross_reference: EFO:0004261
has_related_synonym: Familial Paget's disease of bone
database_cross_reference: GARD:8615
definition: A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
database_cross_reference: SNOMEDCT_US_2020_03_01:2089002
comment: Xref MGI. MESH:C538098 added from NeuroDevNet [WAK].
database_cross_reference: OMIM:602080
database_cross_reference: MESH:D010001
has_exact_synonym: Paget disease of bone
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:M88
database_cross_reference: OMIM:606263
has_exact_synonym: Paget's bone disease
has_exact_synonym: osseous Paget's disease
has_exact_synonym: osteitis deformans
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

lung small cell carcinoma
type: Class
subclass of: lung carcinoma
database_cross_reference: OMIM:182280
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0149925
id: DOID:5409
database_cross_reference: MESH:D055752
database_cross_reference: KEGG:05222
database_cross_reference: SNOMEDCT_US_2020_03_01:254632001
has_alternative_id: DOID:0050875
database_cross_reference: NCI:C4917
comment: OMIM mapping confirmed by DO. [SN].
definition: A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

schizoaffective disorder
type: Class
subclass of: psychotic disorder
definition: A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality.
database_cross_reference: MESH:D011618
database_cross_reference: NCI:C94378
id: DOID:5418
database_cross_reference: UMLS_CUI:C0036337
database_cross_reference: ICD10CM:F25
database_cross_reference: ICD9CM:295.7
database_cross_reference: SNOMEDCT_US_2020_03_01:231490005
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

schizophrenia
type: Class
subclass of: psychotic disorder
database_cross_reference: ICD10CM:F20
database_cross_reference: UMLS_CUI:C0036341
database_cross_reference: NCI:C3362
database_cross_reference: EFO:0000692
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
has_alternative_id: DOID:14734
database_cross_reference: SNOMEDCT_US_2020_03_01:58214004
database_cross_reference: OMIM:181500
database_cross_reference: MESH:D012559
has_obo_namespace: disease_ontology
id: DOID:5419
database_cross_reference: ICD9CM:295
has_exact_synonym: schizophrenia-1
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

ovarian hyperstimulation syndrome
type: Class
subclass of: ovarian disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:608115
database_cross_reference: SNOMEDCT_US_2020_03_01:129635004
has_obo_namespace: disease_ontology
definition: An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.
id: DOID:5425
database_cross_reference: UMLS_CUI:C0085083
database_cross_reference: MESH:D016471
has_exact_synonym: secondary Meig's syndrome
imported from: doid.owl

premature ovarian failure
type: Class
subclass of: ovarian disease
database_cross_reference: SNOMEDCT_US_2020_03_01:237788002
database_cross_reference: OMIM:300511
database_cross_reference: ICD10CM:E28.3
database_cross_reference: OMIM:612310
database_cross_reference: OMIM:311360
database_cross_reference: MESH:D016649
database_cross_reference: UMLS_CUI:C0085215
definition: An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
database_cross_reference: OMIM:612964
database_cross_reference: NCI:C113352
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:300604
id: DOID:5426
database_cross_reference: OMIM:608996
database_cross_reference: OMIM:615723
database_cross_reference: OMIM:615724
database_cross_reference: OMIM:611548
database_cross_reference: ORDO:619
has_exact_synonym: hypergonadotropic hypogonadism
has_exact_synonym: premature menopause
has_exact_synonym: premature ovarian insufficiency
has_exact_synonym: primary ovarian insufficiency
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

dystonia
type: Class
subclass of: movement disease
database_cross_reference: UMLS_CUI:C0013421
database_cross_reference: SNOMEDCT_US_2020_03_01:15802004
database_cross_reference: ICD10CM:G24
database_cross_reference: MESH:D020821
database_cross_reference: SNOMEDCT_US_2020_03_01:250068003
database_cross_reference: UMLS_CUI:C0393593
has_alternative_id: DOID:544
database_cross_reference: OMIM:PS128100
id: DOID:543
database_cross_reference: MESH:D004421
database_cross_reference: NCI:C34563
has_obo_namespace: disease_ontology
has_exact_synonym: dystonic disease
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

bladder papillary transitional cell neoplasm
type: Class
subclass of: urinary tract papillary transitional cell benign neoplasm
database_cross_reference: NCI:C39857
database_cross_reference: UMLS_CUI:C1511197
has_obo_namespace: disease_ontology
id: DOID:5432
has_exact_synonym: urinary bladder Papillary Urothelial neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

urinary tract papillary transitional cell benign neoplasm
type: Class
subclass of: papilloma
subclass of: urinary system benign neoplasm
id: DOID:5433
database_cross_reference: UMLS_CUI:C1335329
database_cross_reference: SNOMEDCT_US_2020_03_01:733845009
has_exact_synonym: Inverted papilloma of urinary tract
database_cross_reference: UMLS_CUI:C1334282
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6192
database_cross_reference: NCI:C27883
has_alternative_id: DOID:6120
has_exact_synonym: Papillary transitional cell neoplasm of the urinary tract
has_exact_synonym: urinary tract inverted papilloma
in_subset: NCIthesaurus
imported from: doid.owl

scrapie
type: Class
subclass of: prion disease
database_cross_reference: SNOMEDCT_US_2020_03_01:35103004
has_obo_namespace: disease_ontology
id: DOID:5434
database_cross_reference: UMLS_CUI:C0036457
database_cross_reference: MESH:D012608
imported from: doid.owl

variant Creutzfeldt-Jakob disease
type: Class
subclass of: prion disease
id: DOID:5435
database_cross_reference: UMLS_CUI:C0085209
has_exact_synonym: Bovine spongiform encephalopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:52869003
database_cross_reference: MESH:D016643
has_obo_namespace: disease_ontology
has_exact_synonym: bovine spongiform encephalopathy
imported from: doid.owl

eccrine acrospiroma
type: Class
subclass of: eccrine sweat gland neoplasm
database_cross_reference: UMLS_CUI:C0206671
id: DOID:5442
has_obo_namespace: disease_ontology
has_exact_synonym: Eccrine acrospiroma
database_cross_reference: NCI:C7568
database_cross_reference: MESH:D018250
has_exact_synonym: Eccrine hidradenoma
has_exact_synonym: Eccrine hidradenoma of skin
has_exact_synonym: Poroma
database_cross_reference: SNOMEDCT_US_2020_03_01:254719003
in_subset: NCIthesaurus
imported from: doid.owl

clear cell hidradenoma
type: Class
subclass of: hidradenoma
has_exact_synonym: Clear cell Hidradenoma
database_cross_reference: SNOMEDCT_US_2020_03_01:254719003
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7567
id: DOID:5443
database_cross_reference: UMLS_CUI:C1370701
has_exact_synonym: Clear cell hidradenoma
has_exact_synonym: Clear cell myoepithelioma
in_subset: NCIthesaurus
imported from: doid.owl

spiradenoma
type: Class
subclass of: apocrine sweat gland neoplasm
id: DOID:5444
database_cross_reference: SNOMEDCT_US_2020_03_01:403938001
has_alternative_id: DOID:1617
has_obo_namespace: disease_ontology
has_exact_synonym: Eccrine spiradenoma
database_cross_reference: NCI:C4170
database_cross_reference: UMLS_CUI:C0334347
has_exact_synonym: Eccrine spiradenoma of skin
has_exact_synonym: benign eccrine spiradenoma
in_subset: NCIthesaurus
imported from: doid.owl

syringocystadenoma papilliferum
type: Class
subclass of: apocrine sweat gland neoplasm
database_cross_reference: UMLS_CUI:C0406803
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000074009
database_cross_reference: GARD:5100
database_cross_reference: SNOMEDCT_US_2020_03_01:8934006
id: DOID:5445
database_cross_reference: NCI:C4172
has_exact_synonym: Papillary Syringadenoma
has_exact_synonym: Papillary syringadenoma
has_exact_synonym: Syringocystadenoma papilliferum
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary venoocclusive disease
type: Class
subclass of: pulmonary hypertension
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0034091
database_cross_reference: GARD:10153
id: DOID:5453
database_cross_reference: MESH:D011668
database_cross_reference: OMIM:265450
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C85039
database_cross_reference: SNOMEDCT_US_2020_03_01:89420002
has_exact_synonym: pulmonary veno-occlusive disease
in_subset: NCIthesaurus
imported from: doid.owl

biliary papillomatosis
type: Class
subclass of: biliary tract benign neoplasm
subclass of: papilloma
database_cross_reference: NCI:C65198
database_cross_reference: UMLS_CUI:C1266038
definition: A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree.
id: DOID:5468
database_cross_reference: SNOMEDCT_US_2020_03_01:128663007
has_exact_synonym: bile duct papillomatosis
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

cystadenofibroma
type: Class
subclass of: ovarian benign neoplasm
subclass of: adenofibroma
id: DOID:5482
database_cross_reference: MESH:D062625
definition: An ovarian benign neoplasm that is composed_of epithelial ovarian tissue.
has_exact_synonym: Cystadenofibroma
database_cross_reference: NCI:C8985
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:2962009
database_cross_reference: UMLS_CUI:C0334317
in_subset: NCIthesaurus
imported from: doid.owl

synovial sarcoma
type: Class
subclass of: synovium cancer
comment: Xref MGI.
database_cross_reference: SNOMEDCT_US_2020_03_01:63211008
database_cross_reference: MESH:D013584
definition: A synovium cancer which develops in the synovial membrane of the joints.
database_cross_reference: UMLS_CUI:C0039101
id: DOID:5485
database_cross_reference: GARD:7721
database_cross_reference: NCI:C3400
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:300813
in_subset: NCIthesaurus
imported from: doid.owl

lice infestation
type: Class
subclass of: parasitic ectoparasitic infectious disease
database_cross_reference: UMLS_CUI:C0030756
database_cross_reference: MESH:D010373
database_cross_reference: ICD10CM:B85.2
has_alternative_id: DOID:5490
database_cross_reference: ICD9CM:132.9
id: DOID:5502
database_cross_reference: SNOMEDCT_US_2020_03_01:74949007
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C128401
definition: A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera.
has_alternative_id: DOID:5523
has_exact_synonym: Infestation by Pediculus
has_exact_synonym: Lice infestation
has_exact_synonym: Louse infestation
has_exact_synonym: Pediculosis + lice
has_exact_synonym: Pediculosis and phthirus infection
has_exact_synonym: Pediculosis and phthirus infections
has_exact_synonym: Pediculosis and phthirus infestation
has_exact_synonym: mixed pediculosis
has_exact_synonym: mixed pediculosis infestation
has_exact_synonym: pediculosis
has_exact_synonym: pediculosis and phthirus infection
in_subset: NCIthesaurus
imported from: doid.owl

spinal cord ependymoma
type: Class
subclass of: spinal cord glioma
has_exact_synonym: Ependymal neoplasm of the Spinal Cord
database_cross_reference: NCI:C3875
database_cross_reference: SNOMEDCT_US_2020_03_01:254949006
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0238432
definition: A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal.
id: DOID:5503
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

tanycytic ependymoma
type: Class
subclass of: benign ependymoma
has_obo_namespace: disease_ontology
id: DOID:5504
database_cross_reference: SNOMEDCT_US_2020_03_01:57706008
database_cross_reference: UMLS_CUI:C1370500
database_cross_reference: NCI:C6903
in_subset: NCIthesaurus
imported from: doid.owl

papillary ependymoma
type: Class
subclass of: benign ependymoma
database_cross_reference: NCI:C4319
database_cross_reference: MESH:D004806
has_obo_namespace: disease_ontology
id: DOID:5505
database_cross_reference: UMLS_CUI:C0334578
database_cross_reference: SNOMEDCT_US_2020_03_01:112686007
in_subset: NCIthesaurus
imported from: doid.owl

nasal cavity squamous cell carcinoma
type: Class
subclass of: nasal cavity cancer
subclass of: squamous cell carcinoma
database_cross_reference: UMLS_CUI:C0280333
database_cross_reference: NCI:C8192
definition: A nasal cavity carcinoma that has_material_basis_in squamous cells.
has_obo_namespace: disease_ontology
id: DOID:5515
has_related_synonym: squamous cell carcinoma of nasal cavity
has_exact_synonym: squamous cell carcinoma of the nasal cavity
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

stomach carcinoma
type: Class
subclass of: stomach cancer
subclass of: carcinoma
database_cross_reference: EFO:0000178
has_obo_namespace: disease_ontology
definition: A stomach cancer that is located_in the stomach.
id: DOID:5517
database_cross_reference: NCI:C4911
database_cross_reference: SNOMEDCT_US_2020_03_01:154446008
database_cross_reference: UMLS_CUI:C0699791
has_exact_synonym: cancer of the stomach
has_exact_synonym: carcinoma of stomach
has_exact_synonym: gastric carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

pneumonia
type: Class
subclass of: lung disease
has_alternative_id: DOID:10509
id: DOID:552
database_cross_reference: NCI:C3333
has_obo_namespace: disease_ontology
definition: A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
has_alternative_id: DOID:5871
database_cross_reference: UMLS_CUI:C0032285
has_alternative_id: DOID:11742
database_cross_reference: MESH:D011014
database_cross_reference: SNOMEDCT_US_2020_03_01:266391003
has_exact_synonym: acute pneumonia
in_subset: NCIthesaurus
imported from: doid.owl

basaloid squamous cell carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: basal cell carcinoma
database_cross_reference: UMLS_CUI:C1266005
has_exact_synonym: Basaloid carcinoma
id: DOID:5522
database_cross_reference: NCI:C54244
has_exact_synonym: Basaloid squamous cell carcinoma
has_obo_namespace: disease_ontology
definition: A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma.
database_cross_reference: SNOMEDCT_US_2020_03_01:128634009
in_subset: NCIthesaurus
imported from: doid.owl

anal squamous cell carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: anal carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:255084004
database_cross_reference: NCI:C9161
database_cross_reference: UMLS_CUI:C1412036
id: DOID:5525
definition: An anal carcinoma that arises near the squamocolumnar junction.
has_exact_synonym: Epidermoid anal carcinoma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

gallbladder squamous cell carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: gallbladder carcinoma
has_obo_namespace: disease_ontology
id: DOID:5535
has_exact_synonym: Epidermoid gallbladder carcinoma
database_cross_reference: UMLS_CUI:C0279658
database_cross_reference: NCI:C9170
definition: A squamous cell carcinoma that is located_in the gallbladder.
has_related_synonym: squamous cell carcinoma of the gallbladder
in_subset: NCIthesaurus
imported from: doid.owl

mature teratoma
type: Class
subclass of: teratoma
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:55818009
database_cross_reference: NCI:C9015
definition: A teratoma that is composed exclusively of mature tissues derived from two or three germ layers.
id: DOID:5566
database_cross_reference: UMLS_CUI:C1368910
in_subset: NCIthesaurus
imported from: doid.owl

ovarian germ cell teratoma
type: Class
subclass of: ovarian germ cell cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:716077006
database_cross_reference: UMLS_CUI:C0280131
id: DOID:5567
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C8110
has_exact_synonym: germ cell teratoma of Ovary
in_subset: NCIthesaurus
imported from: doid.owl

malignant syringoma
type: Class
subclass of: eccrine sweat gland cancer
id: DOID:5569
has_exact_synonym: Microcystic Adnexal carcinoma
has_exact_synonym: Microcystic adnexal carcinoma of skin
has_exact_synonym: Syringomatous carcinoma
has_obo_namespace: disease_ontology
imported from: doid.owl

kidney disease
type: Class
subclass of: urinary system disease
database_cross_reference: UMLS_CUI:C0022658
has_exact_synonym: impaired renal function disease
id: DOID:557
definition: A urinary system disease that is located_in the kidney.
database_cross_reference: EFO:0003086
database_cross_reference: NCI:C3149
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:266612003
has_alternative_id: DOID:11705
database_cross_reference: ICD10CM:N08
database_cross_reference: MESH:D007674
has_exact_synonym: nephropathy
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Beckwith-Wiedemann syndrome
type: Class
subclass of: syndrome
database_cross_reference: NCI:C34415
database_cross_reference: ORDO:116
database_cross_reference: SNOMEDCT_US_2020_03_01:81780002
id: DOID:5572
database_cross_reference: UMLS_CUI:C0004903
database_cross_reference: OMIM:130650
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D001506
database_cross_reference: GARD:3343
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q87.3
definition: A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

VIPoma
type: Class
subclass of: neuroendocrine tumor
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D003969
database_cross_reference: SNOMEDCT_US_2020_03_01:447643008
database_cross_reference: UMLS_CUI:C0011993
database_cross_reference: GARD:5493
database_cross_reference: NCI:C26749
id: DOID:5574
has_exact_synonym: VIP- Secreting tumor
has_exact_synonym: Vasoactive intestinal peptide-secreting tumor
has_exact_synonym: Vipoma, malignant
has_exact_synonym: malignant vasoactive intestinal peptide-secreting tumor
in_subset: NCIthesaurus
imported from: doid.owl

gastrinoma
type: Class
subclass of: neuroendocrine tumor
database_cross_reference: MESH:D015408
database_cross_reference: UMLS_CUI:C0017150
database_cross_reference: SNOMEDCT_US_2020_03_01:16189002
database_cross_reference: NCI:C3050
id: DOID:5577
has_obo_namespace: disease_ontology
definition: A neuroendocrine tumor that results_in an overproduction of gastric acid.
has_exact_synonym: Gastrin Secreting tumor
has_exact_synonym: Gastrin cell tumour
has_exact_synonym: malignant gastrinoma
in_subset: NCIthesaurus
imported from: doid.owl

pancreatic gastrinoma
type: Class
subclass of: islet cell tumor
database_cross_reference: NCI:C9069
database_cross_reference: UMLS_CUI:C1368066
id: DOID:5580
has_obo_namespace: disease_ontology
has_exact_synonym: pancreatic G-cell tumor
in_subset: NCIthesaurus
imported from: doid.owl

breast papillary carcinoma
type: Class
subclass of: breast carcinoma
database_cross_reference: UMLS_CUI:C1336027
has_alternative_id: DOID:6800
id: DOID:5592
database_cross_reference: NCI:C6870
has_exact_synonym: Papillary carcinoma of the breast
has_exact_synonym: breast solid papillary carcinoma
has_obo_namespace: disease_ontology
definition: A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass.
has_related_synonym: papillary carcinoma of breast
has_related_synonym: solid papillary carcinoma of the breast
in_subset: NCIthesaurus
imported from: doid.owl

T-cell acute lymphoblastic leukemia
type: Class
subclass of: lymphoma
subclass of: acute lymphoblastic leukemia
has_exact_synonym: precursor T-lymphoblastic lymphoma/leukemia
database_cross_reference: ICD10CM:C91.5
has_obo_namespace: disease_ontology
id: DOID:5603
has_exact_synonym: acute T cell leukemia
database_cross_reference: MESH:D015459
database_cross_reference: SNOMEDCT_US_2020_03_01:77430005
database_cross_reference: UMLS_CUI:C0023493
definition: An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.
database_cross_reference: NCI:C3184
has_alternative_id: DOID:5599
has_exact_synonym: Precursor T Lymphoblastic Leukemia
has_exact_synonym: T Acute Lymphoblastic Leukemia
has_exact_synonym: T-cell acute lymphocytic leukaemia
has_exact_synonym: acute T cell leukaemia
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

adult acute lymphocytic leukemia
type: Class
subclass of: acute lymphoblastic leukemia
database_cross_reference: NCI:C4967
definition: An acute lymphocytic leukemia occurring during adulthood.
database_cross_reference: UMLS_CUI:C0751606
has_obo_namespace: disease_ontology
has_exact_synonym: adult ALL
id: DOID:5604
has_exact_synonym: adult acute lymphoid Leukemia
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

dental pulp calcification
type: Class
subclass of: dental pulp disease
database_cross_reference: UMLS_CUI:C0011401
has_obo_namespace: disease_ontology
id: DOID:5608
database_cross_reference: MESH:D003784
database_cross_reference: ICD10CM:K04.2
database_cross_reference: SNOMEDCT_US_2020_03_01:57602001
has_exact_synonym: pulp calcification
has_exact_synonym: pulp calcifications
has_exact_synonym: pulpal calcifications
imported from: doid.owl

trigeminal nerve disease
type: Class
subclass of: cranial nerve disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029834
database_cross_reference: ICD9CM:350.8
id: DOID:561
imported from: doid.owl

spinal cancer
type: Class
subclass of: spinal cord disease
subclass of: central nervous system cancer
has_alternative_id: DOID:3638
has_exact_synonym: Intraspinal tumor
database_cross_reference: NCI:C3572
database_cross_reference: MESH:D013120
database_cross_reference: SNOMEDCT_US_2020_03_01:126962006
database_cross_reference: ICD9CM:192.2
database_cross_reference: MESH:D013125
database_cross_reference: UMLS_CUI:C0153646
database_cross_reference: SNOMEDCT_US_2020_03_01:94068003
database_cross_reference: ICD10CM:C72.0
database_cross_reference: NCI:C3381
database_cross_reference: SNOMEDCT_US_2020_03_01:709289008
has_alternative_id: DOID:7225
id: DOID:5612
database_cross_reference: UMLS_CUI:C0037930
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0037939
definition: A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer).
has_exact_synonym: malignant tumor of the Spinal Cord
has_exact_synonym: spinal cord cancer
has_exact_synonym: spinal cord neoplasm
has_related_synonym: spinal neoplasm
has_exact_synonym: tumor of the Spinal Cord
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

eye disease
type: Class
subclass of: sensory system disease
database_cross_reference: NCI:C26767
database_cross_reference: ICD10CM:H44
has_obo_namespace: disease_ontology
id: DOID:5614
database_cross_reference: UMLS_CUI:C0015397
definition: An eye and adnexa disease that is located_in the eye.
has_alternative_id: DOID:2933
database_cross_reference: SNOMEDCT_US_2020_03_01:371409005
database_cross_reference: MESH:D005128
database_cross_reference: ICD9CM:379.90
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

histiocytic and dendritic cell cancer
type: Class
subclass of: hematologic cancer
id: DOID:5621
database_cross_reference: NCI:C9294
database_cross_reference: UMLS_CUI:C1334030
definition: A sarcoma and hematologic cancer that derives_from follicular lymphoma.
has_obo_namespace: disease_ontology
has_exact_synonym: histiocytic and dendritic cell
in_subset: NCIthesaurus
imported from: doid.owl

optic nerve sheath meningioma
type: Class
subclass of: optic nerve neoplasm
id: DOID:5632
database_cross_reference: NCI:C4538
database_cross_reference: SNOMEDCT_US_2020_03_01:254978007
database_cross_reference: UMLS_CUI:C0346328
has_obo_namespace: disease_ontology
has_exact_synonym: meningioma of optic nerve sheath
has_exact_synonym: optic nerve Sheath meningioma
in_subset: NCIthesaurus
imported from: doid.owl

cervical adenosquamous carcinoma
type: Class
subclass of: squamous cell carcinoma
subclass of: cervical cancer
definition: A cervical carcinoma that derives_from squamous cells and gland-like cells.
database_cross_reference: NCI:C4519
has_exact_synonym: Adenosquamous carcinoma of cervix
database_cross_reference: SNOMEDCT_US_2020_03_01:254888007
has_obo_namespace: disease_ontology
id: DOID:5636
has_exact_synonym: Adenosquamous cell carcinoma of the Cervix Uteri
database_cross_reference: UMLS_CUI:C0346202
in_subset: NCIthesaurus
imported from: doid.owl

tricuspid valve prolapse
type: Class
subclass of: tricuspid valve disease
database_cross_reference: SNOMEDCT_US_2020_03_01:253383003
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0040962
id: DOID:5644
database_cross_reference: MESH:D014263
imported from: doid.owl

choroid plexus carcinoma
type: Class
subclass of: carcinoma
subclass of: choroid plexus cancer
has_obo_namespace: disease_ontology
id: DOID:5648
database_cross_reference: NCI:C4715
database_cross_reference: UMLS_CUI:C0346289
has_alternative_id: DOID:5647
database_cross_reference: SNOMEDCT_US_2020_03_01:88252006
database_cross_reference: UMLS_CUI:C0431109
database_cross_reference: MESH:C562943
database_cross_reference: SNOMEDCT_US_2020_03_01:188292007
definition: A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus.
database_cross_reference: NCI:C4533
database_cross_reference: GARD:8238
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

cranial nerve disease
type: Class
subclass of: neuropathy
definition: A neuropathy that is located_in one of the twelve cranial nerves.
id: DOID:5656
database_cross_reference: ICD9CM:352.9
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26733
database_cross_reference: ICD10CM:G52.9
database_cross_reference: UMLS_CUI:C0010266
has_exact_synonym: Cranial nerve disorder
database_cross_reference: MESH:D003389
database_cross_reference: SNOMEDCT_US_2020_03_01:73013002
has_exact_synonym: disorder of cranial nerve
in_subset: NCIthesaurus
imported from: doid.owl

lipid-rich carcinoma
type: Class
subclass of: breast carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:189655006
definition: A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids.
has_obo_namespace: disease_ontology
id: DOID:5658
database_cross_reference: NCI:C4152
database_cross_reference: UMLS_CUI:C0334318
in_subset: NCIthesaurus
imported from: doid.owl

labyrinthine dysfunction
type: Class
subclass of: inner ear disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155514
database_cross_reference: ICD10CM:H83.2
database_cross_reference: SNOMEDCT_US_2020_03_01:5239005
database_cross_reference: ICD9CM:386.5
id: DOID:566
imported from: doid.owl

external ear cancer
type: Class
subclass of: external ear disease
subclass of: ear cancer
database_cross_reference: NCI:C4653
id: DOID:5665
database_cross_reference: SNOMEDCT_US_2020_03_01:277156006
database_cross_reference: UMLS_CUI:C0349576
has_obo_namespace: disease_ontology
definition: An ear cancer that is located_in the external ear.
has_exact_synonym: malignant neoplasm of the External ear
has_exact_synonym: malignant tumor of external ear
in_subset: NCIthesaurus
imported from: doid.owl

large intestine cancer
type: Class
subclass of: intestinal cancer
has_alternative_id: DOID:1994
has_obo_namespace: disease_ontology
has_alternative_id: DOID:1997
database_cross_reference: ICD10CM:C18.9
id: DOID:5672
database_cross_reference: SNOMEDCT_US_2020_03_01:93854002
definition: An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other.
database_cross_reference: UMLS_CUI:C0346629
database_cross_reference: NCI:C4978
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

cribriform carcinoma
type: Class
subclass of: breast carcinoma
database_cross_reference: MESH:D000230
database_cross_reference: UMLS_CUI:C0205643
database_cross_reference: SNOMEDCT_US_2020_03_01:30156004
has_obo_namespace: disease_ontology
definition: A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells.
has_exact_synonym: Cribriform carcinoma
database_cross_reference: NCI:C3680
id: DOID:5675
has_exact_synonym: ductal carcinoma, cribriform type
in_subset: NCIthesaurus
imported from: doid.owl

retinal disease
type: Class
subclass of: eye disease
database_cross_reference: ICD10CM:H35.9
database_cross_reference: SNOMEDCT_US_2020_03_01:29555009
database_cross_reference: MESH:D012164
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0035309
id: DOID:5679
definition: An eye disease that is located_in the retina.
database_cross_reference: NCI:C26875
database_cross_reference: ICD9CM:362.9
in_subset: NCIthesaurus
imported from: doid.owl

hereditary breast ovarian cancer syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
has_obo_namespace: disease_ontology
definition: A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.
has_exact_synonym: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer
database_cross_reference: NCI:C8493
database_cross_reference: SNOMEDCT_US_2020_03_01:718220008
id: DOID:5683
database_cross_reference: UMLS_CUI:C0677776
database_cross_reference: MESH:D061325
comment: Xref MGI.
in_subset: NCIthesaurus
imported from: doid.owl

spondyloepimetaphyseal dysplasia, Sponastrime type
type: Class
subclass of: autosomal recessive disease
subclass of: spondyloepimetaphyseal dysplasia
has_obo_namespace: disease_ontology
definition: A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.
database_cross_reference: NCI:C92206
database_cross_reference: UMLS_CUI:C0920349
id: DOID:5684
database_cross_reference: OMIM:271510
has_exact_synonym: Spondylar and nasal Alterations-Striated Metaphyses syndrome
has_exact_synonym: sponastrime dysplasia
in_subset: NCIthesaurus
imported from: doid.owl

Werner syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3447
definition: A syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.
comment: OMIM mapping confirmed by DO. [LS].
id: DOID:5688
database_cross_reference: GARD:7885
database_cross_reference: UMLS_CUI:C0043119
database_cross_reference: SNOMEDCT_US_2020_03_01:51626007
database_cross_reference: MESH:D014898
database_cross_reference: ORDO:902
database_cross_reference: OMIM:277700
has_exact_synonym: WS
has_exact_synonym: Werner's syndrome
has_exact_synonym: adult premature ageing syndrome
has_exact_synonym: adult progeria
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

visual cortex disease
type: Class
subclass of: visual pathway disease
database_cross_reference: ICD10CM:H47.6
database_cross_reference: UMLS_CUI:C0234398
database_cross_reference: SNOMEDCT_US_2020_03_01:128329001
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35275
database_cross_reference: ICD9CM:377.7
id: DOID:5691
has_exact_synonym: visual cortex dysfunction
in_subset: NCIthesaurus
imported from: doid.owl

aortic valve insufficiency
type: Class
subclass of: aortic valve disease
id: DOID:57
database_cross_reference: ICD9CM:396.3
database_cross_reference: ICD9CM:395.1
has_related_synonym: Corrigan's disease
database_cross_reference: NCI:C51223
database_cross_reference: SNOMEDCT_US_2020_03_01:155283004
database_cross_reference: UMLS_CUI:C0264774
has_alternative_id: DOID:54
database_cross_reference: UMLS_CUI:C0003504
has_alternative_id: DOID:55
database_cross_reference: ICD10CM:I06.1
database_cross_reference: SNOMEDCT_US_2020_03_01:194736003
database_cross_reference: MESH:D001022
has_exact_synonym: Rheumatic aortic insufficiency
has_exact_synonym: Rheumatic aortic regurgitation
has_exact_synonym: Rheumatic aortic valve regurgitation
database_cross_reference: SNOMEDCT_US_2020_03_01:60234000
definition: An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
database_cross_reference: UMLS_CUI:C0155568
has_exact_synonym: aortic incompetence
has_exact_synonym: aortic insufficiency
has_exact_synonym: aortic regurgitation
has_obo_namespace: disease_ontology
has_exact_synonym: rheumatic aortic valve insufficiency
in_subset: NCIthesaurus
imported from: doid.owl

median neuropathy
type: Class
subclass of: mononeuritis of upper limb and mononeuritis multiplex
database_cross_reference: ICD10CM:G56.10
database_cross_reference: SNOMEDCT_US_2020_03_01:193127001
id: DOID:571
database_cross_reference: ICD9CM:354.1
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154742
imported from: doid.owl

hormone producing pituitary cancer
type: Class
subclass of: pituitary cancer
database_cross_reference: NCI:C7911
database_cross_reference: UMLS_CUI:C0278864
database_cross_reference: NCI:C7047
has_alternative_id: DOID:6254
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0851693
id: DOID:5716
has_exact_synonym: Pituitary tumors, Hormone Producing
has_exact_synonym: Somatotropinoma
has_exact_synonym: growth hormone producing pituitary tumor
in_subset: NCIthesaurus
imported from: doid.owl

adrenal neuroblastoma
type: Class
subclass of: adrenal gland cancer
definition: An adrenal gland cancer that derives_from immature neuroblastic cells.
database_cross_reference: NCI:C4827
database_cross_reference: SNOMEDCT_US_2020_03_01:281562007
id: DOID:5718
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0559460
has_exact_synonym: neuroblastoma of Adrenal gland
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

mononeuritis of upper limb and mononeuritis multiplex
type: Class
subclass of: mononeuritis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154741
database_cross_reference: ICD9CM:354
id: DOID:572
database_cross_reference: SNOMEDCT_US_2020_03_01:193125009
imported from: doid.owl

optic atrophy
type: Class
subclass of: optic nerve disease
id: DOID:5723
database_cross_reference: ORDO:98673
comment: Xref MGI.
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:377.1
database_cross_reference: OMIM:PS165500
definition: An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
database_cross_reference: MESH:D009896
database_cross_reference: UMLS_CUI:C0029124
database_cross_reference: NCI:C34863
database_cross_reference: SNOMEDCT_US_2020_03_01:155188004
database_cross_reference: ICD10CM:H47.2
has_exact_synonym: atrophy of optic disc
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

nerve compression syndrome
type: Class
subclass of: peripheral nervous system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:45781009
has_obo_namespace: disease_ontology
id: DOID:573
database_cross_reference: UMLS_CUI:C0027743
database_cross_reference: MESH:D009408
has_alternative_id: DOID:7318
has_exact_synonym: Entrapment Neuropathy
database_cross_reference: UMLS_CUI:C1510429
has_exact_synonym: Compression neuropathy
database_cross_reference: NCI:C27221
has_exact_synonym: entrapment neuropathy
has_exact_synonym: peripheral nerve entrapment syndrome
in_subset: NCIthesaurus
imported from: doid.owl

pyosalpinx
type: Class
subclass of: salpingitis
database_cross_reference: UMLS_CUI:C0034220
database_cross_reference: NCI:C34968
has_exact_synonym: Pyosalpingitis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155974004
database_cross_reference: ICD10CM:N70
id: DOID:5732
in_subset: NCIthesaurus
imported from: doid.owl

salpingitis
type: Class
subclass of: fallopian tube disease
database_cross_reference: SNOMEDCT_US_2020_03_01:155968004
database_cross_reference: NCI:C26880
database_cross_reference: ICD10CM:N70.91
definition: A fallopian tube disease that is characterized by inflammation of the fallopian tube.
database_cross_reference: MESH:D012488
has_obo_namespace: disease_ontology
id: DOID:5733
database_cross_reference: UMLS_CUI:C0036130
in_subset: NCIthesaurus
imported from: doid.owl

peripheral nervous system disease
type: Class
subclass of: nervous system disease
has_alternative_id: DOID:13069
id: DOID:574
has_obo_namespace: disease_ontology
definition: A nervous system disease that affects the peripheral nervous system.
database_cross_reference: UMLS_CUI:C1335029
database_cross_reference: NCI:C27587
database_cross_reference: NCI:C119734
database_cross_reference: UMLS_CUI:C0031117
has_related_synonym: peripheral nerve disease
has_related_synonym: peripheral neuropathy
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: NCIthesaurus
imported from: doid.owl

pancreatic acinar cell adenocarcinoma
type: Class
subclass of: pancreatic adenocarcinoma
definition: A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7977
database_cross_reference: UMLS_CUI:C0279661
id: DOID:5742
database_cross_reference: SNOMEDCT_US_2020_03_01:783771003
has_exact_synonym: pancreatic acinar cell carcinoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

ovarian serous cystadenocarcinoma
type: Class
subclass of: ovarian cystadenocarcinoma
database_cross_reference: UMLS_CUI:C0279663
database_cross_reference: NCI:C7978
has_obo_namespace: disease_ontology
id: DOID:5746
definition: An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed.
has_exact_synonym: serous cystadenoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary valve disease
type: Class
subclass of: heart valve disease
database_cross_reference: ICD9CM:424.3
database_cross_reference: SNOMEDCT_US_2020_03_01:76267008
database_cross_reference: NCI:C78579
id: DOID:5749
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0034087
has_exact_synonym: pulmonary valve disorder
in_subset: NCIthesaurus
imported from: doid.owl

endocervicitis
type: Class
subclass of: cervicitis
definition: A cervicitis that is located_in the endocervix.
database_cross_reference: NCI:C26762
database_cross_reference: SNOMEDCT_US_2020_03_01:155980007
database_cross_reference: UMLS_CUI:C0014127
has_obo_namespace: disease_ontology
id: DOID:5757
in_subset: NCIthesaurus
imported from: doid.owl

malignant mesenchymoma
type: Class
subclass of: mesenchymoma
database_cross_reference: UMLS_CUI:C0334492
database_cross_reference: MESH:C535700
database_cross_reference: GARD:3369
id: DOID:5758
has_exact_synonym: Mesenchymoma, malignant
database_cross_reference: NCI:C4268
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:89623007
in_subset: NCIthesaurus
imported from: doid.owl

sebaceous gland neoplasm
type: Class
subclass of: skin benign neoplasm
database_cross_reference: MESH:D012626
database_cross_reference: UMLS_CUI:C0036503
id: DOID:5759
database_cross_reference: SNOMEDCT_US_2020_03_01:126491004
database_cross_reference: NCI:C3363
has_exact_synonym: Sebaceous neoplasm
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

proteinuria
type: Class
subclass of: kidney disease
database_cross_reference: ICD10CM:R80
database_cross_reference: UMLS_CUI:C0033687
id: DOID:576
definition: A kidney disease that is characterized by the presence of excess proteins in the urine.
database_cross_reference: ICD9CM:791.0
database_cross_reference: MESH:D011507
database_cross_reference: NCI:C38012
database_cross_reference: SNOMEDCT_US_2020_03_01:144515004
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

verruciform xanthoma of skin
type: Class
subclass of: xanthomatosis
subclass of: skin disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4478
id: DOID:5769
database_cross_reference: UMLS_CUI:C0346054
has_exact_synonym: Cutaneous Verruciform Xanthoma
database_cross_reference: SNOMEDCT_US_2020_03_01:254756007
has_exact_synonym: Verruciform xanthoma
has_exact_synonym: Verruciform xanthoma of skin
in_subset: NCIthesaurus
imported from: doid.owl

central nervous system hematologic cancer
type: Class
subclass of: hematologic cancer
subclass of: central nervous system cancer
id: DOID:5772
definition: A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.
has_exact_synonym: CNS hematopoietic tumor
database_cross_reference: UMLS_CUI:C1332882
database_cross_reference: NCI:C5503
has_obo_namespace: disease_ontology
has_related_synonym: hematopoietic neoplasm of central nervous system
in_subset: NCIthesaurus
imported from: doid.owl

oral submucous fibrosis
type: Class
subclass of: mouth disease
id: DOID:5773
database_cross_reference: ICD10CM:K13.5
database_cross_reference: ICD9CM:528.8
definition: A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:9679
database_cross_reference: MESH:D009914
database_cross_reference: SNOMEDCT_US_2020_03_01:32883009
database_cross_reference: GARD:7264
database_cross_reference: UMLS_CUI:C0029172
database_cross_reference: NCI:C34866
has_exact_synonym: Oral cavity Submucous Fibrosis
has_exact_synonym: Oral submucosal fibrosis
has_exact_synonym: Oral submucosal fibrosis, including of tongue
database_cross_reference: UMLS_CUI:C0029171
in_subset: NCIthesaurus
imported from: doid.owl

tympanic membrane disease
type: Class
subclass of: middle ear disease
database_cross_reference: ICD10CM:H73.9
id: DOID:5782
database_cross_reference: SNOMEDCT_US_2020_03_01:21426000
database_cross_reference: UMLS_CUI:C0041825
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:384.9
imported from: doid.owl

uric acid nephrolithiasis
type: Class
subclass of: nephrolithiasis
database_cross_reference: UMLS_CUI:C0403719
has_exact_synonym: acute urate nephropathy
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:274.11
database_cross_reference: SNOMEDCT_US_2020_03_01:267441009
id: DOID:580
definition: A nephrolithiasis that is characterized by stones composed predominantly uric acid.
database_cross_reference: NCI:C123245
database_cross_reference: OMIM:605990
in_subset: NCIthesaurus
imported from: doid.owl

discrete subaortic stenosis
type: Class
subclass of: subvalvular aortic stenosis
database_cross_reference: UMLS_CUI:C0012628
has_obo_namespace: disease_ontology
id: DOID:5804
database_cross_reference: MESH:D021922
imported from: doid.owl

subvalvular aortic stenosis
type: Class
subclass of: aortic valve stenosis
database_cross_reference: MESH:D001020
database_cross_reference: SNOMEDCT_US_2020_03_01:250915007
has_obo_namespace: disease_ontology
id: DOID:5805
definition: An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction.
database_cross_reference: NCI:C85172
database_cross_reference: UMLS_CUI:C0340375
database_cross_reference: GARD:5052
in_subset: NCIthesaurus
imported from: doid.owl

purine nucleoside phosphorylase deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: combined T cell and B cell immunodeficiency
database_cross_reference: NCI:C3963
has_obo_namespace: disease_ontology
database_cross_reference: GARD:4606
id: DOID:5813
database_cross_reference: SNOMEDCT_US_2020_03_01:60743005
database_cross_reference: ORDO:760
database_cross_reference: UMLS_CUI:C0268125
database_cross_reference: MESH:C562587
database_cross_reference: ICD10CM:D81.5
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:613179
definition: A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.
has_exact_synonym: PNP deficiency
has_exact_synonym: Purine nucleoside phosphorylase deficiency
has_exact_synonym: Purine-Nucleoside Phosphorylase deficiency
has_exact_synonym: deficiency of inosine phosphorylase
in_subset: NCIthesaurus
imported from: doid.owl

composite lymphoma
type: Class
subclass of: B-cell lymphoma
id: DOID:5820
database_cross_reference: MESH:D058617
database_cross_reference: UMLS_CUI:C0545080
definition: A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C38661
in_subset: NCIthesaurus
imported from: doid.owl

gray zone lymphoma
type: Class
subclass of: lymphoma
database_cross_reference: NCI:C37869
database_cross_reference: UMLS_CUI:C1333878
database_cross_reference: SNOMEDCT_US_2020_03_01:722954005
definition: A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas.
database_cross_reference: GARD:10897
has_obo_namespace: disease_ontology
id: DOID:5822
in_subset: NCIthesaurus
imported from: doid.owl

breast lymphoma
type: Class
subclass of: lymphoma
subclass of: breast cancer
database_cross_reference: UMLS_CUI:C0349669
id: DOID:5826
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:278052009
definition: A breast cancer that arises_from lymphocytes.
has_exact_synonym: Lymphoma of the breast
has_exact_synonym: lymphoma of breast
has_exact_synonym: malignant lymphoma of breast
imported from: doid.owl

endometrioid ovary carcinoma
type: Class
subclass of: ovary adenocarcinoma
database_cross_reference: UMLS_CUI:C0346163
definition: An ovary adenocarcinoma that has_material_basis_in endometrial tissue.
id: DOID:5828
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7979
has_exact_synonym: Ovarian endometrioid carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:254852002
has_related_synonym: endometrioid carcinoma of ovary
has_exact_synonym: endometrioid carcinoma ovary
in_subset: NCIthesaurus
imported from: doid.owl

hemolytic anemia
type: Class
subclass of: normocytic anemia
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000743
database_cross_reference: OMIM:266120
database_cross_reference: ICD10CM:D55-D59
database_cross_reference: SNOMEDCT_US_2020_03_01:61261009
database_cross_reference: UMLS_CUI:C0002878
has_exact_synonym: ANEMIA HEMOLYTIC
id: DOID:583
comment: OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
database_cross_reference: OMIM:612631
database_cross_reference: NCI:C34376
in_subset: NCIthesaurus
imported from: doid.owl

spermatocytoma
type: Class
subclass of: germ cell cancer
subclass of: testicular cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:9294008
database_cross_reference: UMLS_CUI:C0334517
id: DOID:5834
has_exact_synonym: Spermatocytic seminoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C39921
has_exact_synonym: Spermatocytic Seminoma
in_subset: NCIthesaurus
imported from: doid.owl

extragonadal seminoma
type: Class
subclass of: seminoma
has_alternative_id: DOID:6136
database_cross_reference: UMLS_CUI:C1333502
id: DOID:5838
database_cross_reference: NCI:C7327
has_obo_namespace: disease_ontology
has_exact_synonym: primary extragonadal seminoma
in_subset: NCIthesaurus
imported from: doid.owl

testis seminoma
type: Class
subclass of: germ cell cancer
subclass of: testicular cancer
id: DOID:5842
database_cross_reference: UMLS_CUI:C0036631
database_cross_reference: NCI:C9309
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:443675005
database_cross_reference: MESH:D018239
has_exact_synonym: Seminoma of testis
has_exact_synonym: Seminoma testis
has_exact_synonym: testicular Seminoma Pure
in_subset: NCIthesaurus
imported from: doid.owl

myocardial infarction
type: Class
subclass of: coronary artery disease
database_cross_reference: EFO:0000612
database_cross_reference: UMLS_CUI:C0027051
database_cross_reference: MESH:D009203
database_cross_reference: OMIM:608557
definition: A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
database_cross_reference: SNOMEDCT_US_2020_03_01:66514008
database_cross_reference: NCI:C27996
database_cross_reference: ICD10CM:I21
has_exact_synonym: Myocardial infarct
has_obo_namespace: disease_ontology
comment: Xref MGI.
id: DOID:5844
has_exact_synonym: heart attack
in_subset: NCIthesaurus
imported from: doid.owl

posterior myocardial infarction
type: Class
subclass of: myocardial infarction
database_cross_reference: UMLS_CUI:C0340319
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:194800006
id: DOID:5847
has_exact_synonym: Posterior myocardial infarction
imported from: doid.owl

nephrolithiasis
type: Class
subclass of: kidney disease
database_cross_reference: UMLS_CUI:C0156257
database_cross_reference: ICD9CM:592
id: DOID:585
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0004253
database_cross_reference: ICD10CM:N20
database_cross_reference: SNOMEDCT_US_2020_03_01:155867005
definition: A kidney disease characterized by the formation of stoney concentrations in the kidneys.
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Stone - kidney/ureter
has_exact_synonym: kidney stones
imported from: doid.owl

inferior myocardial infarction
type: Class
subclass of: myocardial infarction
database_cross_reference: MESH:D056989
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0340305
id: DOID:5850
has_exact_synonym: Inferior myocardial infarction
database_cross_reference: SNOMEDCT_US_2020_03_01:194804002
imported from: doid.owl

anteroseptal myocardial infarction
type: Class
subclass of: myocardial infarction
database_cross_reference: MESH:D056988
database_cross_reference: UMLS_CUI:C0262565
has_obo_namespace: disease_ontology
id: DOID:5855
imported from: doid.owl

eosinophilic pneumonia
type: Class
subclass of: pneumonia
id: DOID:5870
database_cross_reference: ICD10CM:J82
database_cross_reference: UMLS_CUI:C1527407
database_cross_reference: NCI:C35150
has_obo_namespace: disease_ontology
definition: A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night.
database_cross_reference: MESH:D011657
database_cross_reference: SNOMEDCT_US_2020_03_01:196145005
database_cross_reference: GARD:107
has_exact_synonym: Pneumonia, eosinophilic
in_subset: NCIthesaurus
imported from: doid.owl

retroperitoneal cancer
type: Class
subclass of: organ system cancer
database_cross_reference: ICD10CM:C48
id: DOID:5875
database_cross_reference: SNOMEDCT_US_2020_03_01:254617008
database_cross_reference: UMLS_CUI:C0153464
database_cross_reference: UMLS_CUI:C0153465
database_cross_reference: SNOMEDCT_US_2020_03_01:187801002
database_cross_reference: ICD9CM:158.0
database_cross_reference: ICD9CM:158
has_alternative_id: DOID:9860
database_cross_reference: UMLS_CUI:C0035358
database_cross_reference: ICD10CM:C48.0
database_cross_reference: MESH:D012186
database_cross_reference: NCI:C3537
database_cross_reference: SNOMEDCT_US_2020_03_01:363420003
definition: An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:12340
database_cross_reference: NCI:C3357
has_related_synonym: malignant neoplasm of retroperitoneum
has_exact_synonym: malignant neoplasm of retroperitoneum and peritoneum
has_related_synonym: malignant retroperitoneal cancer
has_exact_synonym: malignant tumor of peritoneum and retroperitoneum
has_exact_synonym: neoplasm of retroperitoneum
has_exact_synonym: neoplasm of the retroperitoneum
has_exact_synonym: retroperitoneal neoplasm
has_exact_synonym: tumor of retroperitoneum
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

apocrine sweat gland neoplasm
type: Class
subclass of: sweat gland benign neoplasm
database_cross_reference: UMLS_CUI:C1332318
id: DOID:5876
database_cross_reference: NCI:C6798
has_obo_namespace: disease_ontology
has_exact_synonym: Apocrine tumor
in_subset: NCIthesaurus
imported from: doid.owl

congenital hemolytic anemia
type: Class
subclass of: physical disorder
subclass of: hemolytic anemia
database_cross_reference: NCI:C34379
database_cross_reference: UMLS_CUI:C0002881
id: DOID:589
database_cross_reference: SNOMEDCT_US_2020_03_01:42601008
database_cross_reference: GARD:6167
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000745
database_cross_reference: ICD10CM:D58.9
database_cross_reference: ICD9CM:282
has_exact_synonym: congenital hemolytic anaemia
has_exact_synonym: hereditary hemolytic anaemia
has_exact_synonym: hereditary hemolytic anemia
in_subset: NCIthesaurus
imported from: doid.owl

phobic disorder
type: Class
subclass of: anxiety disorder
database_cross_reference: MESH:D010698
database_cross_reference: ICD9CM:300.20
definition: An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35420
database_cross_reference: ICD10CM:F40
id: DOID:591
database_cross_reference: SNOMEDCT_US_2020_03_01:52039009
database_cross_reference: UMLS_CUI:C0349231
in_subset: NCIthesaurus
imported from: doid.owl

agoraphobia
type: Class
subclass of: phobic disorder
database_cross_reference: UMLS_CUI:C0001818
definition: A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
id: DOID:593
has_exact_synonym: Fear of open spaces
database_cross_reference: ICD10CM:F40.0
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:154885006
database_cross_reference: NCI:C34362
database_cross_reference: MESH:D000379
in_subset: NCIthesaurus
imported from: doid.owl

panic disorder
type: Class
subclass of: anxiety disorder
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:F41.0
database_cross_reference: OMIM:607853
database_cross_reference: UMLS_CUI:C0030319
definition: An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.
database_cross_reference: OMIM:609985
database_cross_reference: OMIM:167870
comment: Xref MGI.
database_cross_reference: EFO:0004262
id: DOID:594
database_cross_reference: NCI:C34890
database_cross_reference: MESH:D016584
database_cross_reference: SNOMEDCT_US_2020_03_01:191705007
has_exact_synonym: panic anxiety syndrome
in_subset: NCIthesaurus
imported from: doid.owl

malignant peripheral nerve sheath tumor
type: Class
subclass of: peripheral nerve sheath neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:134324009
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3798
database_cross_reference: UMLS_CUI:C0751690
database_cross_reference: GARD:10872
database_cross_reference: MESH:D018319
id: DOID:5940
has_exact_synonym: malignant neoplasm of the peripheral nerve Sheath
in_subset: NCIthesaurus
imported from: doid.owl

occlusion precerebral artery
type: Class
subclass of: cerebrovascular disease
database_cross_reference: UMLS_CUI:C0155727
database_cross_reference: ICD10CM:I65.9
id: DOID:5976
has_obo_namespace: disease_ontology
has_alternative_id: DOID:1547
has_alternative_id: DOID:10961
database_cross_reference: ICD9CM:433.9
has_related_synonym: Occlusion and stenosis of multiple and bilateral precerebral arteries
has_related_synonym: occlusion and stenosis of precerebral artery
imported from: doid.owl

specific phobia
type: Class
subclass of: phobic disorder
database_cross_reference: NCI:C35284
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:54587008
database_cross_reference: ICD10CM:F40.2
database_cross_reference: MESH:C562465
definition: A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations.
database_cross_reference: UMLS_CUI:C0236801
id: DOID:599
database_cross_reference: OMIM:608251
has_exact_synonym: simple phobia
in_subset: NCIthesaurus
imported from: doid.owl

congestive heart failure
type: Class
subclass of: heart disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:I50
database_cross_reference: ICD10CM:I50.9
has_exact_synonym: Cardiac Failure Congestive
database_cross_reference: SNOMEDCT_US_2020_03_01:155374007
database_cross_reference: NCI:C3080
database_cross_reference: MESH:D006333
has_exact_synonym: CHF
database_cross_reference: ICD9CM:428
database_cross_reference: SNOMEDCT_US_2020_03_01:195108009
database_cross_reference: UMLS_CUI:C0018801
has_exact_synonym: Congestive heart disease
database_cross_reference: UMLS_CUI:C0018802
database_cross_reference: ICD9CM:428.0
has_alternative_id: DOID:395
id: DOID:6000
definition: A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
database_cross_reference: NCI:C50577
has_exact_synonym: Weak heart
in_subset: NCIthesaurus
imported from: doid.owl

appendix disease
type: Class
subclass of: gastrointestinal system disease
id: DOID:60000
definition: A gastrointestinal system disease that is located_in the appendix.
has_obo_namespace: disease_ontology
imported from: doid.owl

pulmonary artery disease
type: Class
subclass of: artery disease
subclass of: lung disease
id: DOID:60001
definition: An artery disease that is located in the lungs.
has_obo_namespace: disease_ontology
imported from: doid.owl

malignant cystadenoma
type: Class
subclass of: malignant adenoma
has_obo_namespace: disease_ontology
id: DOID:60004
imported from: doid.owl

benign vascular tumor
type: Class
subclass of: cardiovascular organ benign neoplasm
has_obo_namespace: disease_ontology
id: DOID:60006
imported from: doid.owl

cerebrovascular benign neoplasm
type: Class
subclass of: cardiovascular organ benign neoplasm
definition: A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system.
has_obo_namespace: disease_ontology
id: DOID:60007
imported from: doid.owl

parathyroid gland benign neoplasm
type: Class
subclass of: endocrine organ benign neoplasm
subclass of: parathyroid gland disease
definition: An endocrine organ benign neoplasm that is located_in some parathyroid gland.
has_obo_namespace: disease_ontology
id: DOID:60008
imported from: doid.owl

pituitary gland benign neoplasm
type: Class
subclass of: endocrine organ benign neoplasm
subclass of: pituitary gland disease
id: DOID:60009
definition: A benign neoplasm located in the pituitary gland.
has_obo_namespace: disease_ontology
imported from: doid.owl

selective immunoglobulin deficiency disease
type: Class
subclass of: B cell deficiency
database_cross_reference: NCI:C27870
database_cross_reference: UMLS_CUI:C1335942
id: DOID:6025
definition: A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

juvenile type testicular granulosa cell tumor
type: Class
subclass of: testicular granulosa cell tumor
database_cross_reference: UMLS_CUI:C0334403
database_cross_reference: SNOMEDCT_US_2020_03_01:189735004
has_alternative_id: DOID:5332
id: DOID:6032
has_exact_synonym: Juvenile granulosa cell tumor
has_exact_synonym: Juvenile granulosa cell tumour
has_exact_synonym: Juvenile type Granulosa cell tumor
has_exact_synonym: Juvenile type Granulosa cell tumour
database_cross_reference: UMLS_CUI:C1515285
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C39947
database_cross_reference: NCI:C4207
has_exact_synonym: juvenile type granulosa cell neoplasm
has_exact_synonym: juvenile type testicular granulosa cell tumour
in_subset: NCIthesaurus
imported from: doid.owl

esophageal disease
type: Class
subclass of: gastrointestinal system disease
database_cross_reference: ICD10CM:K22.9
database_cross_reference: MESH:D004935
database_cross_reference: ICD9CM:530.9
database_cross_reference: NCI:C3027
has_obo_namespace: disease_ontology
has_alternative_id: DOID:10118
definition: A gastrointestinal system disease that is located_in the esophagus.
database_cross_reference: SNOMEDCT_US_2020_03_01:266497000
has_alternative_id: DOID:10117
id: DOID:6050
database_cross_reference: UMLS_CUI:C0014852
has_alternative_id: DOID:11798
has_exact_synonym: esophageal Ulcer
in_subset: NCIthesaurus
imported from: doid.owl

ovarian mucinous neoplasm
type: Class
subclass of: ovary epithelial cancer
database_cross_reference: UMLS_CUI:C1518233
has_alternative_id: DOID:3712
has_obo_namespace: disease_ontology
definition: An ovary epithelial cancer that is characterized by the presence of mucin.
database_cross_reference: UMLS_CUI:C1335168
database_cross_reference: NCI:C40033
database_cross_reference: NCI:C5242
database_cross_reference: SNOMEDCT_US_2020_03_01:189683008
id: DOID:6067
has_exact_synonym: Ovarian mucinous tumor
has_exact_synonym: malignant ovarian mucinous neoplasm
has_exact_synonym: mucinous tumor of Ovary
in_subset: NCIthesaurus
imported from: doid.owl

paraplegia
type: Class
subclass of: central nervous system disease
database_cross_reference: NCI:C50687
database_cross_reference: ICD9CM:344.1
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0030486
database_cross_reference: GARD:7327
database_cross_reference: ICD10CM:G82.2
id: DOID:607
has_exact_synonym: Paraplegia, lower
database_cross_reference: SNOMEDCT_US_2020_03_01:155031004
database_cross_reference: MESH:D010264
in_subset: NCIthesaurus
imported from: doid.owl

acute stress disorder
type: Class
subclass of: anxiety disorder
database_cross_reference: ICD9CM:308.3
database_cross_reference: UMLS_CUI:C0029488
id: DOID:6088
database_cross_reference: SNOMEDCT_US_2020_03_01:192043003
definition: An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.
has_obo_namespace: disease_ontology
has_exact_synonym: traumatic stress disorder
imported from: doid.owl

mitral valve disease
type: Class
subclass of: heart valve disease
database_cross_reference: UMLS_CUI:C0155563
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0264765
id: DOID:61
database_cross_reference: SNOMEDCT_US_2020_03_01:11851006
database_cross_reference: ICD10CM:I05.1
has_alternative_id: DOID:58
has_alternative_id: DOID:59
database_cross_reference: ICD9CM:424.0
database_cross_reference: UMLS_CUI:C0026265
database_cross_reference: SNOMEDCT_US_2020_03_01:155278007
database_cross_reference: ICD9CM:394
database_cross_reference: SNOMEDCT_US_2020_03_01:83898004
database_cross_reference: ICD10CM:I05
database_cross_reference: ICD9CM:394.1
database_cross_reference: NCI:C78446
has_alternative_id: DOID:11505
has_exact_synonym: Mitral RH valve dis.
has_exact_synonym: Rheumatic disease of mitral valve
has_exact_synonym: Rheumatic mitral insufficiency
has_exact_synonym: Rheumatic mitral valve changes
has_exact_synonym: Rheumatic mitral valve regurgitation
has_exact_synonym: chronic rheumatic mitral valve
has_exact_synonym: disease of mitral valve
has_exact_synonym: rheumatic disease of mitral valve
has_exact_synonym: rheumatic mitral valve incompetence
in_subset: NCIthesaurus
imported from: doid.owl

jugular foramen meningioma
type: Class
subclass of: meningioma
database_cross_reference: UMLS_CUI:C1334298
database_cross_reference: NCI:C5293
id: DOID:6110
has_obo_namespace: disease_ontology
has_exact_synonym: meningioma of the Jugular Foramen
in_subset: NCIthesaurus
imported from: doid.owl

primary immunodeficiency disease
type: Class
subclass of: immune system disease
database_cross_reference: OMIM:242850
database_cross_reference: OMIM:PS300755
has_obo_namespace: disease_ontology
definition: An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
database_cross_reference: UMLS_CUI:C0021051
database_cross_reference: ICD10CM:D84.9
database_cross_reference: MESH:D007153
id: DOID:612
database_cross_reference: SNOMEDCT_US_2020_03_01:191005003
comment: Xref MGI.
database_cross_reference: ICD9CM:279.3
database_cross_reference: NCI:C39725
database_cross_reference: KEGG:05340
has_exact_synonym: hypoimmunity
has_exact_synonym: immune deficiency disorder
has_exact_synonym: immunodeficiency syndrome
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

anal canal carcinoma
type: Class
subclass of: anal canal cancer
subclass of: carcinoma
database_cross_reference: UMLS_CUI:C0563211
database_cross_reference: OMIM:105580
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C7489
database_cross_reference: SNOMEDCT_US_2020_03_01:285310000
id: DOID:6126
database_cross_reference: MESH:C563020
definition: An anal canal cancer that derives_from epithelial cells.
has_exact_synonym: anal canal and Perianal gland carcinoma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

bronchitis
type: Class
subclass of: bronchial disease
database_cross_reference: SNOMEDCT_US_2020_03_01:155566007
has_exact_synonym: CI - Chest infection
has_exact_synonym: Chest infection
has_alternative_id: DOID:9982
database_cross_reference: NCI:C26722
has_alternative_id: DOID:9983
database_cross_reference: MESH:D001991
has_alternative_id: DOID:5049
database_cross_reference: UMLS_CUI:C0149514
id: DOID:6132
database_cross_reference: SNOMEDCT_US_2020_03_01:155512004
definition: A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
has_alternative_id: DOID:13504
has_alternative_id: DOID:13503
database_cross_reference: UMLS_CUI:C0006277
database_cross_reference: SNOMEDCT_US_2020_03_01:32398004
database_cross_reference: ICD9CM:466.0
database_cross_reference: UMLS_CUI:C0008677
has_alternative_id: DOID:13728
has_alternative_id: DOID:6131
has_alternative_id: DOID:13707
has_alternative_id: DOID:13729
database_cross_reference: MESH:D029481
has_alternative_id: DOID:6130
database_cross_reference: NCI:C26932
database_cross_reference: ICD10CM:J40
database_cross_reference: ICD10CM:J42
database_cross_reference: ICD10CM:J20
database_cross_reference: NCI:C2911
database_cross_reference: ICD9CM:491
database_cross_reference: ICD9CM:490
has_exact_synonym: acute Bronchitis
has_related_synonym: acute bronchitis and bronchiolitis
has_exact_synonym: chest cold
has_exact_synonym: chronic bronchitis
has_obo_namespace: disease_ontology
has_exact_synonym: recurrent wheezy bronchitis
in_subset: NCIthesaurus
imported from: doid.owl

lymphopenia
type: Class
subclass of: leukopenia
definition: A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.
database_cross_reference: MESH:D008231
database_cross_reference: ICD9CM:288.51
id: DOID:614
database_cross_reference: UMLS_CUI:C0024312
database_cross_reference: SNOMEDCT_US_2020_03_01:48813009
database_cross_reference: ICD10CM:D72.810
has_obo_namespace: disease_ontology
has_exact_synonym: Lymphocytopenia
imported from: doid.owl

leukopenia
type: Class
subclass of: leukocyte disease
database_cross_reference: MESH:D007970
database_cross_reference: ICD10CM:D72.819
id: DOID:615
database_cross_reference: ICD9CM:288.50
database_cross_reference: SNOMEDCT_US_2020_03_01:142917003
has_obo_namespace: disease_ontology
definition: A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
has_exact_synonym: Leucopenia
database_cross_reference: UMLS_CUI:C0023530
imported from: doid.owl

ovarian small cell carcinoma
type: Class
subclass of: ovarian carcinoma
database_cross_reference: GARD:10411
database_cross_reference: NCI:C27390
definition: An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
has_obo_namespace: disease_ontology
id: DOID:6179
in_subset: NCIthesaurus
imported from: doid.owl

epithelioid sarcoma
type: Class
subclass of: sarcoma
subclass of: connective tissue cancer
database_cross_reference: NCI:C3714
database_cross_reference: SNOMEDCT_US_2020_03_01:782827000
database_cross_reference: UMLS_CUI:C0205944
definition: A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue.
id: DOID:6193
database_cross_reference: MESH:D012509
database_cross_reference: GARD:10181
has_obo_namespace: disease_ontology
has_exact_synonym: epithelioid cell sarcoma
in_subset: NCIthesaurus
imported from: doid.owl

conjunctivitis
type: Class
subclass of: conjunctival disease
database_cross_reference: ICD9CM:372.30
id: DOID:6195
database_cross_reference: MESH:D003231
definition: A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.
database_cross_reference: SNOMEDCT_US_2020_03_01:193857008
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H10
database_cross_reference: UMLS_CUI:C0009763
database_cross_reference: NCI:C34504
has_related_synonym: Madras eye
in_subset: NCIthesaurus
imported from: doid.owl

reactive arthritis
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: arthritis
has_alternative_id: DOID:9760
database_cross_reference: UMLS_CUI:C0035012
has_alternative_id: DOID:6194
database_cross_reference: GARD:5693
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:M02.10
has_alternative_id: DOID:11891
database_cross_reference: UMLS_CUI:C0152085
database_cross_reference: ICD9CM:711.30
id: DOID:6196
has_alternative_id: DOID:13782
has_alternative_id: DOID:13784
database_cross_reference: ICD10CM:M02.3
has_alternative_id: DOID:13783
has_alternative_id: DOID:13785
has_exact_synonym: Fiessinger Leroy Reiter syndrome
database_cross_reference: ICD9CM:099.3
has_alternative_id: DOID:10148
database_cross_reference: NCI:C34975
database_cross_reference: SNOMEDCT_US_2020_03_01:56528004
has_alternative_id: DOID:13318
has_alternative_id: DOID:13519
database_cross_reference: MESH:D016918
definition: An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.
has_exact_synonym: Post-bacterial arthropathy
has_exact_synonym: Reactive arthritis
has_exact_synonym: Reiter disease
has_exact_synonym: Reiter's disease
database_cross_reference: SNOMEDCT_US_2020_03_01:266212009
has_exact_synonym: postdysenteric arthropathy
in_subset: NCIthesaurus
imported from: doid.owl

cornea cancer
type: Class
subclass of: corneal disease
subclass of: ocular cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:126997008
database_cross_reference: SNOMEDCT_US_2020_03_01:93766000
database_cross_reference: NCI:C4361
id: DOID:6199
database_cross_reference: ICD10CM:C69.1
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3565
has_exact_synonym: Corneal tumor
database_cross_reference: UMLS_CUI:C0339304
database_cross_reference: UMLS_CUI:C0153629
has_alternative_id: DOID:12757
database_cross_reference: ICD9CM:190.4
has_exact_synonym: malignant Corneal tumor
has_exact_synonym: malignant neoplasm of cornea
has_exact_synonym: malignant tumor of cornea
has_exact_synonym: neoplasm of cornea
in_subset: NCIthesaurus
imported from: doid.owl

aortic valve disease
type: Class
subclass of: heart valve disease
subclass of: aortic disease
comment: Updating out dated UMLS CUI.
id: DOID:62
database_cross_reference: SNOMEDCT_US_2020_03_01:8722008
has_alternative_id: DOID:56
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C78650
database_cross_reference: ICD9CM:424.1
database_cross_reference: UMLS_CUI:C1260873
in_subset: NCIthesaurus
imported from: doid.owl

blood protein disease
type: Class
subclass of: hematopoietic system disease
id: DOID:620
database_cross_reference: MESH:D001796
database_cross_reference: UMLS_CUI:C0005830
has_exact_synonym: blood protein disorder
has_obo_namespace: disease_ontology
imported from: doid.owl

pericardial mesothelioma
type: Class
subclass of: pericardium cancer
database_cross_reference: UMLS_CUI:C1335381
database_cross_reference: UMLS_CUI:C0346110
id: DOID:6201
has_alternative_id: DOID:5883
has_alternative_id: DOID:7433
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7631
database_cross_reference: NCI:C7632
database_cross_reference: NCI:C8703
database_cross_reference: UMLS_CUI:C0854883
database_cross_reference: SNOMEDCT_US_2020_03_01:187885008
database_cross_reference: ICD10CM:C45.2
has_exact_synonym: malignant Pericardial Mesothelioma
has_exact_synonym: malignant mesothelioma of pericardium
in_subset: NCIthesaurus
imported from: doid.owl

follicular adenoma
type: Class
subclass of: thyroid adenoma
database_cross_reference: SNOMEDCT_US_2020_03_01:55021007
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0205647
database_cross_reference: MESH:D000236
id: DOID:6204
has_exact_synonym: Follicular adenoma
has_exact_synonym: Follicular adenoma of the Thyroid gland
has_exact_synonym: Thyroid follicular adenoma
imported from: doid.owl

gastric diffuse adenocarcinoma
type: Class
subclass of: gastric adenocarcinoma
database_cross_reference: UMLS_CUI:C0334280
has_alternative_id: DOID:4946
database_cross_reference: NCI:C9159
id: DOID:6217
database_cross_reference: UMLS_CUI:C0279635
has_obo_namespace: disease_ontology
definition: A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma.
database_cross_reference: NCI:C4127
database_cross_reference: SNOMEDCT_US_2020_03_01:24505004
in_subset: NCIthesaurus
imported from: doid.owl

articular cartilage disease
type: Class
subclass of: cartilage disease
database_cross_reference: UMLS_CUI:C0158073
has_alternative_id: DOID:6226
has_alternative_id: DOID:9873
has_alternative_id: DOID:9874
has_alternative_id: DOID:9875
has_alternative_id: DOID:9871
has_alternative_id: DOID:9366
has_alternative_id: DOID:9872
database_cross_reference: ICD9CM:718.0
id: DOID:6227
database_cross_reference: SNOMEDCT_US_2020_03_01:268062001
has_obo_namespace: disease_ontology
imported from: doid.owl

non-invasive bladder papillary urothelial neoplasm
type: Class
subclass of: bladder papillary transitional cell neoplasm
database_cross_reference: NCI:C39831
id: DOID:6239
has_alternative_id: DOID:6238
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C27884
has_exact_synonym: Papillary urothelial neoplasm of low malignant potential
database_cross_reference: UMLS_CUI:C1518358
database_cross_reference: SNOMEDCT_US_2020_03_01:128625004
database_cross_reference: UMLS_CUI:C1266010
has_exact_synonym: bladder PUNLMP
has_exact_synonym: bladder papillary neoplasm of low malignant potential
in_subset: NCIthesaurus
imported from: doid.owl

renal oncocytoma
type: Class
subclass of: kidney benign neoplasm
database_cross_reference: OMIM:553000
database_cross_reference: UMLS_CUI:C0346255
id: DOID:6245
database_cross_reference: SNOMEDCT_US_2020_03_01:254922006
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C537750
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:8477
database_cross_reference: NCI:C4526
has_exact_synonym: Oncocytoma of kidney
has_exact_synonym: renal epithelial Oncocytic tumor
in_subset: NCIthesaurus
imported from: doid.owl

transient hypogammaglobulinemia
type: Class
subclass of: agammaglobulinemia
database_cross_reference: NCI:C27319
id: DOID:625
database_cross_reference: UMLS_CUI:C0859960
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

complement deficiency
type: Class
subclass of: primary immunodeficiency disease
database_cross_reference: UMLS_CUI:C0272242
database_cross_reference: MESH:D000081208
id: DOID:626
definition: A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.
has_exact_synonym: Complement deficiency
has_exact_synonym: Complement deficiency disease
database_cross_reference: SNOMEDCT_US_2020_03_01:191014008
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D84.1
database_cross_reference: NCI:C4691
in_subset: NCIthesaurus
imported from: doid.owl

follicular dendritic cell sarcoma
type: Class
subclass of: dendritic cell sarcoma
definition: A dendritic cell sarcoma cancer that effects the follicular dendritic cells.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1260325
database_cross_reference: MESH:D054740
id: DOID:6262
has_exact_synonym: Follicular Dendritic cell sarcoma
has_exact_synonym: Follicular dendritic cell tumour
database_cross_reference: NCI:C9281
database_cross_reference: ICD10CM:C96.4
database_cross_reference: SNOMEDCT_US_2020_03_01:128816008
in_subset: NCIthesaurus
imported from: doid.owl

inflammatory breast carcinoma
type: Class
subclass of: breast adenocarcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:254840009
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4001
database_cross_reference: UMLS_CUI:C0278601
database_cross_reference: MESH:D058922
id: DOID:6263
definition: A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli.
has_exact_synonym: Inflammatory carcinoma of breast
has_exact_synonym: Mastitis carcinomatosa
in_subset: NCIthesaurus
imported from: doid.owl

severe combined immunodeficiency
type: Class
subclass of: combined immunodeficiency
database_cross_reference: GARD:7628
definition: A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
database_cross_reference: NCI:C3472
database_cross_reference: SNOMEDCT_US_2020_03_01:190994004
id: DOID:627
database_cross_reference: MESH:D016511
has_exact_synonym: SCID
database_cross_reference: UMLS_CUI:C0085110
has_exact_synonym: combined T and B cell inborn immunodeficiency
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

gastric cardia carcinoma
type: Class
subclass of: cardia cancer
subclass of: stomach carcinoma
has_obo_namespace: disease_ontology
id: DOID:6270
database_cross_reference: UMLS_CUI:C1333763
database_cross_reference: NCI:C6794
has_exact_synonym: carcinoma of Cardia of stomach
in_subset: NCIthesaurus
imported from: doid.owl

gastric cardia adenocarcinoma
type: Class
subclass of: cardia cancer
subclass of: gastric adenocarcinoma
database_cross_reference: NCI:C5247
id: DOID:6271
database_cross_reference: UMLS_CUI:C1333762
has_exact_synonym: adenocarcinoma of Cardia of stomach
has_related_synonym: adenocarcinoma of gastric cardia
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

TSH producing pituitary tumor
type: Class
subclass of: functioning pituitary adenoma
database_cross_reference: SNOMEDCT_US_2020_03_01:254959007
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0346303
id: DOID:6275
database_cross_reference: NCI:C8011
has_exact_synonym: TSH Secreting adenoma of the Pituitary
has_exact_synonym: TSH Secreting tumor of Pituitary
has_exact_synonym: TSH Secreting tumour of Pituitary
has_exact_synonym: TSH producing pituitary tumour
has_exact_synonym: Thyrotroph adenoma
in_subset: NCIthesaurus
imported from: doid.owl

combined T cell and B cell immunodeficiency
type: Class
subclass of: combined immunodeficiency
database_cross_reference: ORDO:101972
database_cross_reference: UMLS_CUI:C0494261
comment: Xref MGI.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D81
id: DOID:628
definition: A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.
has_exact_synonym: Congenital Combined Immunodeficiency
database_cross_reference: NCI:C27871
database_cross_reference: SNOMEDCT_US_2020_03_01:191003005
database_cross_reference: OMIM:312863
database_cross_reference: ICD9CM:279.2
has_exact_synonym: combined immunodeficiency
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

genetic disease
type: Class
subclass of: disease
database_cross_reference: MESH:D030342
has_obo_namespace: disease_ontology
definition: A disease that has_material_basis_in genetic variations in the human genome.
database_cross_reference: NCI:C3101
database_cross_reference: UMLS_CUI:C0019247
database_cross_reference: SNOMEDCT_US_2020_03_01:32895009
id: DOID:630
in_subset: NCIthesaurus
imported from: doid.owl

ectopic thymus
type: Class
subclass of: thymus gland disease
database_cross_reference: NCI:C27804
database_cross_reference: UMLS_CUI:C1333375
has_obo_namespace: disease_ontology
id: DOID:6307
in_subset: NCIthesaurus
imported from: doid.owl

fibromyalgia
type: Class
subclass of: myositis
id: DOID:631
database_cross_reference: NCI:C87497
database_cross_reference: UMLS_CUI:C0016053
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D005356
database_cross_reference: ICD10CM:M79.7
database_cross_reference: SNOMEDCT_US_2020_03_01:1304004
in_subset: NCIthesaurus
imported from: doid.owl

myositis
type: Class
subclass of: myopathy
database_cross_reference: NCI:C27578
database_cross_reference: SNOMEDCT_US_2020_03_01:26889001
database_cross_reference: ICD10CM:M60
definition: A myopathy characterized by muscle inflammation.
database_cross_reference: MESH:D009220
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0027121
database_cross_reference: OMIM:160750
id: DOID:633
has_exact_synonym: Inflammatory disorder of muscle
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

acquired immunodeficiency syndrome
type: Class
subclass of: human immunodeficiency virus infectious disease
database_cross_reference: EFO:0000765
database_cross_reference: UMLS_CUI:C0001175
database_cross_reference: SNOMEDCT_US_2020_03_01:62479008
database_cross_reference: NCI:C2851
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:B20
database_cross_reference: MESH:D000163
has_exact_synonym: AIDS
id: DOID:635
definition: A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
has_exact_synonym: acquired Immune deficiency
has_related_synonym: acquired immune deficiency syndrome
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

CLL/SLL
type: Class
subclass of: chronic lymphocytic leukemia
database_cross_reference: SNOMEDCT_US_2020_03_01:399607007
database_cross_reference: NCI:C27911
has_obo_namespace: disease_ontology
definition: A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes.
database_cross_reference: UMLS_CUI:C1302547
id: DOID:6354
has_exact_synonym: chronic lymphocytic leukemia/small lymphocytic lymphoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

central pontine myelinolysis
type: Class
subclass of: demyelinating disease
id: DOID:636
database_cross_reference: UMLS_CUI:C0206083
database_cross_reference: SNOMEDCT_US_2020_03_01:6807001
database_cross_reference: NCI:C84623
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D017590
database_cross_reference: ICD10CM:G37.2
database_cross_reference: GARD:8749
definition: A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.
has_exact_synonym: osmotic demyelination syndrome
in_subset: NCIthesaurus
imported from: doid.owl

migraine
type: Class
subclass of: brain disease
database_cross_reference: SNOMEDCT_US_2020_03_01:193036004
database_cross_reference: UMLS_CUI:C0042331
database_cross_reference: SNOMEDCT_US_2020_03_01:155046006
has_alternative_id: DOID:12437
database_cross_reference: UMLS_CUI:C0149931
database_cross_reference: ICD10CM:G43
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C89715
id: DOID:6364
definition: A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
database_cross_reference: OMIM:157300
database_cross_reference: ICD9CM:346
database_cross_reference: MESH:D008881
database_cross_reference: EFO:0003821
has_exact_synonym: migraine disorder
has_exact_synonym: migraine variant
has_exact_synonym: migraine with or without aura
in_subset: NCIthesaurus
imported from: doid.owl

acral lentiginous melanoma
type: Class
subclass of: skin melanoma
database_cross_reference: GARD:9570
id: DOID:6367
definition: A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes.
has_obo_namespace: disease_ontology
has_exact_synonym: acral lentiginous melanoma, malignant
has_exact_synonym: malignant acral lentiginous melanoma
in_subset: DO cancer slim
imported from: doid.owl

hypersplenism
type: Class
subclass of: splenic disease
database_cross_reference: NCI:C34714
database_cross_reference: UMLS_CUI:C0020532
database_cross_reference: SNOMEDCT_US_2020_03_01:154839008
database_cross_reference: ICD9CM:289.4
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D006971
database_cross_reference: ICD10CM:D73.1
id: DOID:6376
has_exact_synonym: hypersplenia
in_subset: NCIthesaurus
imported from: doid.owl

acute disseminated encephalomyelitis
type: Class
subclass of: encephalomyelitis
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004673
database_cross_reference: SNOMEDCT_US_2020_03_01:83942000
definition: An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection.
has_exact_synonym: ADEM
id: DOID:639
database_cross_reference: NCI:C34578
database_cross_reference: GARD:8639
database_cross_reference: UMLS_CUI:C0014059
has_exact_synonym: acute Disseminated Encephalomyelitis
has_exact_synonym: acute disseminated encephalitis
in_subset: NCIthesaurus
imported from: doid.owl

encephalomyelitis
type: Class
subclass of: central nervous system disease
database_cross_reference: MESH:D004679
database_cross_reference: UMLS_CUI:C0014070
database_cross_reference: SNOMEDCT_US_2020_03_01:154991009
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34580
id: DOID:640
has_exact_synonym: Encephalitis &/or myelitis
in_subset: NCIthesaurus
imported from: doid.owl

metanephric adenoma
type: Class
subclass of: renal adenoma
has_exact_synonym: Metanephric adenoma
database_cross_reference: NCI:C27253
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1266045
id: DOID:6404
database_cross_reference: SNOMEDCT_US_2020_03_01:128670007
in_subset: NCIthesaurus
imported from: doid.owl

double outlet right ventricle
type: Class
subclass of: ventricular septal defect
database_cross_reference: ICD9CM:745.11
database_cross_reference: MESH:D004310
has_exact_synonym: Dextrotransposition of aorta
database_cross_reference: ICD10CM:Q20.1
database_cross_reference: SNOMEDCT_US_2020_03_01:7484005
database_cross_reference: OMIM:217095
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Double outlet right ventricle
database_cross_reference: NCI:C98916
database_cross_reference: GARD:1908
has_exact_synonym: Double outlet right ventricle with subpulmonary ventricular septal defect
database_cross_reference: ORDO:3426
has_exact_synonym: Taussig-Bing syndrome or defect
database_cross_reference: UMLS_CUI:C0013069
has_obo_namespace: disease_ontology
id: DOID:6406
in_subset: NCIthesaurus
imported from: doid.owl

tetralogy of Fallot
type: Class
subclass of: congenital heart disease
id: DOID:6419
database_cross_reference: MESH:D013771
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: SNOMEDCT_US_2020_03_01:156913009
has_obo_namespace: disease_ontology
database_cross_reference: GARD:2245
database_cross_reference: UMLS_CUI:C0039685
database_cross_reference: ICD9CM:745.2
database_cross_reference: NCI:C84505
database_cross_reference: OMIM:187500
database_cross_reference: ICD10CM:Q21.3
has_exact_synonym: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary valve stenosis
type: Class
subclass of: pulmonary valve disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D011666
database_cross_reference: SNOMEDCT_US_2020_03_01:56786000
database_cross_reference: GARD:4596
id: DOID:6420
database_cross_reference: UMLS_CUI:C0034089
database_cross_reference: OMIM:265500
imported from: doid.owl

eyelid carcinoma
type: Class
subclass of: skin carcinoma
subclass of: eyelid disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0920196
database_cross_reference: NCI:C6078
id: DOID:6425
has_exact_synonym: carcinoma of the eyelid
in_subset: NCIthesaurus
imported from: doid.owl

progressive multifocal leukoencephalopathy
type: Class
subclass of: viral infectious disease
database_cross_reference: UMLS_CUI:C0023524
definition: A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.
database_cross_reference: ICD9CM:046.3
id: DOID:643
database_cross_reference: GARD:7468
database_cross_reference: NCI:C26815
has_related_synonym: PML
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:A81.2
database_cross_reference: MESH:D007968
database_cross_reference: SNOMEDCT_US_2020_03_01:22255007
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary hypertension
type: Class
subclass of: hypertension
definition: A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.
database_cross_reference: UMLS_CUI:C0020542
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3120
database_cross_reference: ICD10CM:I27.20
database_cross_reference: MESH:D006976
id: DOID:6432
database_cross_reference: SNOMEDCT_US_2020_03_01:155328008
in_subset: NCIthesaurus
imported from: doid.owl

Cowden syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: NCI:C3076
database_cross_reference: MESH:D006223
database_cross_reference: UMLS_CUI:C0018553
id: DOID:6457
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:201
database_cross_reference: NCI:C8419
database_cross_reference: GARD:6202
has_alternative_id: DOID:3471
database_cross_reference: SNOMEDCT_US_2020_03_01:58037000
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:PS158350
definition: A syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.
has_exact_synonym: Cowden disease
has_exact_synonym: Lhermitte-Duclos disease
database_cross_reference: SNOMEDCT_US_2020_03_01:67944007
database_cross_reference: UMLS_CUI:C0391826
has_exact_synonym: dysplastic Gangliocytoma of Cerebellum
has_related_synonym: multiple hamartoma syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

cerebellar liponeurocytoma
type: Class
subclass of: cerebellum cancer
id: DOID:6458
database_cross_reference: GARD:10642
database_cross_reference: NCI:C6905
database_cross_reference: SNOMEDCT_US_2020_03_01:734134003
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1370507
has_exact_synonym: Cerebellar liponeurocytoma
has_exact_synonym: Lipomatous Medulloblastoma
in_subset: NCIthesaurus
imported from: doid.owl

viral encephalitis
type: Class
subclass of: viral infectious disease
subclass of: encephalitis
database_cross_reference: NCI:C34576
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0014055
has_alternative_id: DOID:10839
database_cross_reference: MESH:D004671
definition: An encephalitis that involves inflammation of the brain caused by viral infection.
database_cross_reference: SNOMEDCT_US_2020_03_01:68197003
id: DOID:646
has_alternative_id: DOID:10248
has_alternative_id: DOID:10249
has_exact_synonym: epidemic encephalitis
in_subset: NCIthesaurus
imported from: doid.owl

large intestine lipoma
type: Class
subclass of: lipoma
subclass of: intestinal benign neoplasm
database_cross_reference: UMLS_CUI:C1333114
database_cross_reference: NCI:C5678
definition: An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine.
has_obo_namespace: disease_ontology
id: DOID:6460
has_exact_synonym: Lipoma of large Intestine
in_subset: NCIthesaurus
imported from: doid.owl

ovarian mucinous adenofibroma
type: Class
subclass of: ovarian benign neoplasm
id: DOID:6469
database_cross_reference: NCI:C40040
definition: An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1518723
in_subset: NCIthesaurus
imported from: doid.owl

kuru
type: Class
subclass of: prion disease
database_cross_reference: UMLS_CUI:C0022802
database_cross_reference: GARD:7617
id: DOID:648
database_cross_reference: SNOMEDCT_US_2020_03_01:192684001
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:046.0
database_cross_reference: ICD10CM:A81.81
database_cross_reference: MESH:D007729
has_exact_synonym: kuru encephalopathy
imported from: doid.owl

prion disease
type: Class
subclass of: brain disease
id: DOID:649
database_cross_reference: SNOMEDCT_US_2020_03_01:20484008
database_cross_reference: UMLS_CUI:C0162534
has_obo_namespace: disease_ontology
definition: A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
database_cross_reference: NCI:C128346
database_cross_reference: ICD10CM:A81.9
database_cross_reference: MESH:D017096
database_cross_reference: KEGG:05020
has_exact_synonym: Prion disease pathway
has_exact_synonym: Prion protein disease
has_exact_synonym: Spongiform Encephalopathy
has_exact_synonym: prion induced disorder
has_exact_synonym: transmissible spongiform encephalopathy
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

extraskeletal myxoid chondrosarcoma
type: Class
subclass of: extraosseous chondrosarcoma
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C27502
database_cross_reference: MESH:C563195
definition: An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix.
has_exact_synonym: Myxoid extraosseous chondrosarcoma
database_cross_reference: SNOMEDCT_US_2020_03_01:404079008
id: DOID:6496
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:612237
database_cross_reference: UMLS_CUI:C1275278
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

seborrheic keratosis
type: Class
subclass of: keratosis
subclass of: acanthoma
subclass of: skin benign neoplasm
database_cross_reference: MESH:D017492
has_obo_namespace: disease_ontology
database_cross_reference: GARD:3108
database_cross_reference: NCI:C9006
database_cross_reference: ICD10CM:L82
database_cross_reference: ICD9CM:702.1
database_cross_reference: UMLS_CUI:C0022603
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:6498
database_cross_reference: SNOMEDCT_US_2020_03_01:201096007
database_cross_reference: OMIM:182000
in_subset: NCIthesaurus
imported from: doid.owl

connective tissue disease
type: Class
subclass of: musculoskeletal system disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26729
database_cross_reference: MESH:D003240
id: DOID:65
definition: A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
database_cross_reference: SNOMEDCT_US_2020_03_01:201432001
database_cross_reference: UMLS_CUI:C0009782
has_exact_synonym: connective tissue disorder
has_exact_synonym: disorder of connective tissue
in_subset: NCIthesaurus
imported from: doid.owl

purine-pyrimidine metabolic disorder
type: Class
subclass of: inherited metabolic disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:190917005
database_cross_reference: ICD9CM:277.2
database_cross_reference: UMLS_CUI:C0029595
id: DOID:653
definition: An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E79.8
has_exact_synonym: inborn errors of purine-pyrimidine metabolism
imported from: doid.owl

cortical thymoma
type: Class
subclass of: dendritic cell thymoma
database_cross_reference: UMLS_CUI:C1266095
id: DOID:6530
has_exact_synonym: Polygonal cell Thymoma
database_cross_reference: SNOMEDCT_US_2020_03_01:128713007
has_exact_synonym: Thymoma, cortical
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6888
in_subset: NCIthesaurus
imported from: doid.owl

plasma cell neoplasm
type: Class
subclass of: mature B-cell neoplasm
database_cross_reference: MESH:D010265
id: DOID:6536
definition: A mature B-cell neoplasm that is composed of plasma cells.
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0000200
has_exact_synonym: Plasma cell dyscrasia
has_exact_synonym: Plasma cell tumour
has_exact_synonym: Plasmacytic tumor
database_cross_reference: UMLS_CUI:C1136084
database_cross_reference: SNOMEDCT_US_2020_03_01:71390001
imported from: doid.owl

overnutrition
type: Class
subclass of: nutrition disease
comment: Updated outdated UMLS CUI.
definition: A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D044343
database_cross_reference: UMLS_CUI:C1257763
database_cross_reference: SNOMEDCT_US_2020_03_01:302872003
id: DOID:654
imported from: doid.owl

acne
type: Class
subclass of: sebaceous gland disease
database_cross_reference: OMIM:604324
database_cross_reference: MESH:D000152
database_cross_reference: UMLS_CUI:C0702166
database_cross_reference: UMLS_CUI:C0152249
database_cross_reference: ICD10CM:L70
database_cross_reference: SNOMEDCT_US_2020_03_01:11381005
database_cross_reference: SNOMEDCT_US_2020_03_01:201210008
id: DOID:6543
has_obo_namespace: disease_ontology
has_alternative_id: DOID:9906
database_cross_reference: ICD10CM:L70.2
definition: A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
has_exact_synonym: Acne varioliformis
database_cross_reference: ICD9CM:706.0
has_exact_synonym: acne vulgaris
has_exact_synonym: frontalis acne
imported from: doid.owl

heart lymphoma
type: Class
subclass of: lymphoma
subclass of: heart cancer
has_obo_namespace: disease_ontology
id: DOID:6547
has_exact_synonym: Lymphoma of Heart
database_cross_reference: NCI:C5368
database_cross_reference: UMLS_CUI:C1332850
in_subset: NCIthesaurus
imported from: doid.owl

inherited metabolic disorder
type: Class
subclass of: disease of metabolism
definition: A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
database_cross_reference: SNOMEDCT_US_2020_03_01:86095007
has_exact_synonym: Inborn Errors of Metabolism
database_cross_reference: MESH:D008661
database_cross_reference: NCI:C34816
database_cross_reference: UMLS_CUI:C0025521
id: DOID:655
has_obo_namespace: disease_ontology
has_exact_synonym: Metabolic hereditary disorder
has_exact_synonym: inborn metabolism disorder
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

adrenal adenoma
type: Class
subclass of: endocrine organ benign neoplasm
subclass of: adenoma
subclass of: adrenal gland disease
id: DOID:656
has_obo_namespace: disease_ontology
definition: An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.
database_cross_reference: GARD:5745
has_exact_synonym: adenoma of the Adrenal gland
imported from: doid.owl

adenoma
type: Class
subclass of: cell type benign neoplasm
database_cross_reference: NCI:C2855
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000236
has_alternative_id: DOID:2655
database_cross_reference: NCI:C4196
database_cross_reference: UMLS_CUI:C0334389
database_cross_reference: SNOMEDCT_US_2020_03_01:79041005
definition: A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
database_cross_reference: UMLS_CUI:C0001430
id: DOID:657
database_cross_reference: SNOMEDCT_US_2020_03_01:443416007
has_exact_synonym: acinar cell adenoma
has_exact_synonym: acinic cell adenoma
has_exact_synonym: adenomas
in_subset: NCIthesaurus
imported from: doid.owl

muscle tissue disease
type: Class
subclass of: muscular disease
id: DOID:66
has_obo_namespace: disease_ontology
imported from: doid.owl

adrenal cortex cancer
type: Class
subclass of: adrenal cortex disease
subclass of: adrenal gland cancer
id: DOID:660
database_cross_reference: UMLS_CUI:C0346402
database_cross_reference: NCI:C2858
has_exact_synonym: Adrenal cortical tumors
database_cross_reference: SNOMEDCT_US_2020_03_01:93664009
has_alternative_id: DOID:3949
database_cross_reference: NCI:C9327
database_cross_reference: MESH:D000306
database_cross_reference: ICD10CM:C74.0
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0001618
database_cross_reference: SNOMEDCT_US_2020_03_01:127022002
has_exact_synonym: malignant Adrenocortical tumor
has_exact_synonym: malignant neoplasm of adrenal cortex
has_exact_synonym: malignant tumour of adrenal cortex
has_exact_synonym: neoplasm of adrenal cortex
in_subset: NCIthesaurus
imported from: doid.owl

leukocyte adhesion deficiency
type: Class
subclass of: autosomal recessive disease
subclass of: combined T cell and B cell immunodeficiency
subclass of: leukocyte disease
database_cross_reference: MESH:D018370
id: DOID:6612
database_cross_reference: ORDO:2968
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9544
definition: A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system.
has_alternative_id: DOID:611
has_exact_synonym: Congenital leukocyte adherence deficiency
database_cross_reference: UMLS_CUI:C0242597
imported from: doid.owl

X-linked hyper IgM syndrome
type: Class
subclass of: X-linked recessive disease
subclass of: hyper IgM syndrome
database_cross_reference: GARD:73
database_cross_reference: UMLS_CUI:C0272236
definition: A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26.
id: DOID:6620
database_cross_reference: MESH:D053306
database_cross_reference: NCI:C3990
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:82286005
has_exact_synonym: hyperimmunoglobulin M syndrome
in_subset: NCIthesaurus
imported from: doid.owl

cerebral angioma
type: Class
subclass of: brain angioma
id: DOID:6621
database_cross_reference: NCI:C5433
definition: A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0877388
has_exact_synonym: hemangioma of Cerebrum
in_subset: NCIthesaurus
imported from: doid.owl

diffuse idiopathic skeletal hyperostosis
type: Class
subclass of: spinal disease
subclass of: calcinosis
id: DOID:6652
database_cross_reference: ICD10CM:M48.1
database_cross_reference: ICD9CM:721.6
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Ankylosing vertebral hyperostosis
has_exact_synonym: DISH
has_exact_synonym: Disseminated idiopathic skeletal hyperostosis
has_related_synonym: Forestier disease
database_cross_reference: GARD:6460
database_cross_reference: NCI:C84671
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:31487001
database_cross_reference: MESH:D004057
database_cross_reference: UMLS_CUI:C0020498
database_cross_reference: OMIM:106400
definition: A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary large cell neuroendocrine carcinoma
type: Class
subclass of: lung large cell carcinoma
has_obo_namespace: disease_ontology
has_alternative_id: DOID:5721
id: DOID:6658
database_cross_reference: UMLS_CUI:C1265996
database_cross_reference: NCI:C5672
database_cross_reference: NCI:C6875
database_cross_reference: UMLS_CUI:C1334363
database_cross_reference: SNOMEDCT_US_2020_03_01:128628002
in_subset: NCIthesaurus
imported from: doid.owl

tooth and nail syndrome
type: Class
subclass of: syndrome
definition: A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.
database_cross_reference: NCI:C40553
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: MESH:C536736
database_cross_reference: SNOMEDCT_US_2020_03_01:400036004
database_cross_reference: UMLS_CUI:C0406735
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:189500
id: DOID:6678
has_exact_synonym: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
has_exact_synonym: Tooth and Nail syndrome
has_exact_synonym: Witkop's syndrome
in_subset: NCIthesaurus
imported from: doid.owl

myositis ossificans
type: Class
subclass of: myositis
definition: A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.
has_exact_synonym: Myisitis ossificans
database_cross_reference: NCI:C3253
has_obo_namespace: disease_ontology
id: DOID:668
database_cross_reference: SNOMEDCT_US_2020_03_01:44551007
database_cross_reference: UMLS_CUI:C0027122
database_cross_reference: MESH:D009221
has_exact_synonym: Ossification - muscle
in_subset: NCIthesaurus
imported from: doid.owl

Capgras syndrome
type: Class
subclass of: delusional disorder
id: DOID:6680
definition: A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor.
database_cross_reference: MESH:D002194
database_cross_reference: UMLS_CUI:C0006895
has_exact_synonym: Capgras delusion theory
database_cross_reference: NCI:C34446
database_cross_reference: SNOMEDCT_US_2020_03_01:44906001
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

spondylolisthesis
type: Class
subclass of: bone structure disease
database_cross_reference: NCI:C35033
database_cross_reference: MESH:D013168
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:184200
id: DOID:6682
database_cross_reference: ICD10CM:M43.1
definition: A bone structure disease that has_material_basis_in displacement located_in set of vertebrae.
database_cross_reference: SNOMEDCT_US_2020_03_01:157003009
database_cross_reference: UMLS_CUI:C0038016
in_subset: NCIthesaurus
imported from: doid.owl

X-linked Aarskog syndrome
type: Class
subclass of: X-linked recessive disease
subclass of: Aarskog syndrome
database_cross_reference: UMLS_CUI:C0175701
database_cross_reference: NCI:C129720
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:205809002
database_cross_reference: OMIM:305400
definition: A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
database_cross_reference: GARD:4775
has_exact_synonym: Aarskog-Scott syndrome
database_cross_reference: MESH:C535331
id: DOID:6683
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q87.19
has_exact_synonym: Greig's syndrome
has_exact_synonym: faciogenital dysplasia
in_subset: NCIthesaurus
imported from: doid.owl

autoimmune lymphoproliferative syndrome
type: Class
subclass of: hypersensitivity reaction type IV disease
database_cross_reference: UMLS_CUI:C1328840
database_cross_reference: ORDO:3261
database_cross_reference: MESH:D056735
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C37864
database_cross_reference: GARD:8686
database_cross_reference: OMIM:601859
id: DOID:6688
database_cross_reference: ICD9CM:279.41
definition: A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
has_exact_synonym: ALPS
database_cross_reference: SNOMEDCT_US_2020_03_01:702444009
database_cross_reference: ICD10CM:D89.82
has_exact_synonym: Canale-Smith syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

malignant triton tumor
type: Class
subclass of: malignant peripheral nerve sheath tumor
has_exact_synonym: MPNST with Rhabdomyosarcoma
database_cross_reference: NCI:C4335
database_cross_reference: SNOMEDCT_US_2020_03_01:354002
id: DOID:6707
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0334616
has_exact_synonym: MPNST with rhabdomyoblastic differentiation
has_exact_synonym: malignant Triton tumor
has_exact_synonym: malignant Triton tumour
has_exact_synonym: malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma
in_subset: NCIthesaurus
imported from: doid.owl

anterior spinal artery syndrome
type: Class
subclass of: artery disease
subclass of: syndrome
subclass of: cerebrovascular disease
database_cross_reference: GARD:9653
database_cross_reference: ICD10CM:G83.82
id: DOID:6712
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020759
database_cross_reference: SNOMEDCT_US_2020_03_01:282785008
database_cross_reference: UMLS_CUI:C0221069
definition: A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery.
has_exact_synonym: Anterior spinal artery occlusion syndrome
imported from: doid.owl

cerebrovascular disease
type: Class
subclass of: vascular disease
subclass of: brain disease
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0007820
has_alternative_id: DOID:8231
has_exact_synonym: CVA
has_alternative_id: DOID:12214
has_obo_namespace: disease_ontology
has_alternative_id: DOID:3455
definition: An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.
has_exact_synonym: Cerebrovascular accident
database_cross_reference: SNOMEDCT_US_2020_03_01:266312006
database_cross_reference: NCI:C2938
id: DOID:6713
database_cross_reference: ICD10CM:I67.9
database_cross_reference: ICD9CM:437.9
database_cross_reference: MESH:D002561
database_cross_reference: EFO:0000712
has_exact_synonym: cerebrovascular accident
has_exact_synonym: cerebrovascular disorder
has_exact_synonym: stroke
in_subset: NCIthesaurus
imported from: doid.owl

spleen cancer
type: Class
subclass of: lymphatic system cancer
subclass of: splenic disease
definition: A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.
database_cross_reference: GARD:7683
database_cross_reference: ICD10CM:C26.1
database_cross_reference: UMLS_CUI:C0037999
database_cross_reference: NCI:C3539
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013160
database_cross_reference: SNOMEDCT_US_2020_03_01:94071006
database_cross_reference: UMLS_CUI:C0153470
id: DOID:672
database_cross_reference: NCI:C3383
database_cross_reference: SNOMEDCT_US_2020_03_01:127230005
has_alternative_id: DOID:671
has_exact_synonym: Splenic neoplasm
has_exact_synonym: malignant Splenic tumor
has_exact_synonym: malignant tumour of spleen
has_exact_synonym: spleen neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

spinal stenosis
type: Class
subclass of: bone deterioration disease
database_cross_reference: ICD9CM:724.00
database_cross_reference: SNOMEDCT_US_2020_03_01:268082002
database_cross_reference: MESH:D013130
definition: A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord.
database_cross_reference: SNOMEDCT_US_2020_03_01:18347007
has_alternative_id: DOID:12235
database_cross_reference: ICD9CM:723.0
has_alternative_id: DOID:10097
has_obo_namespace: disease_ontology
id: DOID:6725
database_cross_reference: ICD10CM:M48.0
database_cross_reference: ICD10CM:M48.061
database_cross_reference: ICD10CM:M48.02
has_exact_synonym: Spinal stenosis of lumbar region
database_cross_reference: UMLS_CUI:C0158280
database_cross_reference: UMLS_CUI:C0037944
database_cross_reference: UMLS_CUI:C0158288
database_cross_reference: SNOMEDCT_US_2020_03_01:83561009
has_exact_synonym: cervical spinal stenosis
has_exact_synonym: lumbar spinal stenosis
imported from: doid.owl

cleft palate
type: Class
subclass of: orofacial cleft
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:99772
database_cross_reference: MESH:D002972
definition: An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
database_cross_reference: SNOMEDCT_US_2020_03_01:156940009
database_cross_reference: NCI:C87069
database_cross_reference: ICD9CM:749.0
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0008925
id: DOID:674
database_cross_reference: ICD10CM:Q35
has_exact_synonym: Palatoschisis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

cervix small cell carcinoma
type: Class
subclass of: cervix carcinoma
database_cross_reference: NCI:C7982
id: DOID:6740
database_cross_reference: UMLS_CUI:C0279674
has_obo_namespace: disease_ontology
has_exact_synonym: small cell carcinoma of the Cervix Uteri
has_related_synonym: small cell carcinoma of the cervix
in_subset: NCIthesaurus
imported from: doid.owl

juvenile rheumatoid arthritis
type: Class
subclass of: rheumatoid arthritis
id: DOID:676
database_cross_reference: OMIM:604302
has_alternative_id: DOID:675
database_cross_reference: ICD9CM:714.3
database_cross_reference: UMLS_CUI:C0409667
definition: A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
database_cross_reference: ICD10CM:M08.4
database_cross_reference: NCI:C26979
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:7441009
database_cross_reference: ICD9CM:714.31
database_cross_reference: SNOMEDCT_US_2020_03_01:201799006
database_cross_reference: SNOMEDCT_US_2020_03_01:74391003
database_cross_reference: ORDO:92
has_alternative_id: DOID:10129
database_cross_reference: ICD9CM:714.32
database_cross_reference: ICD9CM:714.33
database_cross_reference: GARD:3067
has_exact_synonym: Pauciarticular onset juvenile chronic arthritis
has_exact_synonym: Still's disease
database_cross_reference: SNOMEDCT_US_2020_03_01:201798003
database_cross_reference: UMLS_CUI:C0157918
database_cross_reference: UMLS_CUI:C0157917
database_cross_reference: NCI:C61279
comment: Xref MGI.
database_cross_reference: UMLS_CUI:C0157916
has_alternative_id: DOID:1264
has_exact_synonym: acute juvenile rheumatoid arthritis
has_exact_synonym: juvenile chronic polyarthritis
has_exact_synonym: juvenile idiopathic arthritis
has_exact_synonym: monarticular juvenile rheumatoid arthritis
has_exact_synonym: pauciarticular juvenile arthritis
has_exact_synonym: systemic juvenile rheumatoid arthritis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

lung lymphoma
type: Class
subclass of: lymphoma
subclass of: lung cancer
database_cross_reference: UMLS_CUI:C0519063
id: DOID:6760
has_obo_namespace: disease_ontology
has_exact_synonym: lymphoma of lung
has_exact_synonym: pulmonary Lymphoma
imported from: doid.owl

progressive supranuclear palsy
type: Class
subclass of: movement disease
database_cross_reference: UMLS_CUI:C0038868
database_cross_reference: ICD10CM:G23.1
definition: A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:601104
database_cross_reference: ORDO:683
database_cross_reference: GARD:7471
database_cross_reference: SNOMEDCT_US_2020_03_01:192975003
database_cross_reference: OMIM:610898
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C85028
database_cross_reference: OMIM:609454
database_cross_reference: MESH:D013494
id: DOID:678
has_exact_synonym: Steele-Richardson-Olszewski syndrome
has_exact_synonym: progressive supranuclear ophthalmoplegia
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

basal ganglia disease
type: Class
subclass of: brain disease
database_cross_reference: MESH:D001480
definition: A brain disease that is characterized by dysfunctional movement, located_in basal ganglia with_material_basis_in diseased components of the basal ganglia and associated neural circuits.
id: DOID:679
database_cross_reference: UMLS_CUI:C0004782
database_cross_reference: SNOMEDCT_US_2020_03_01:70835005
has_obo_namespace: disease_ontology
imported from: doid.owl

tauopathy
type: Class
subclass of: neurodegenerative disease
definition: A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0949664
database_cross_reference: MESH:D024801
id: DOID:680
in_subset: DO FlyBase slim
imported from: doid.owl

progressive bulbar palsy
type: Class
subclass of: motor neuron disease
database_cross_reference: ICD10CM:G12.22
database_cross_reference: GARD:10928
database_cross_reference: ICD9CM:335.22
has_obo_namespace: disease_ontology
id: DOID:681
database_cross_reference: NCI:C85026
database_cross_reference: UMLS_CUI:C0030442
database_cross_reference: MESH:D010244
database_cross_reference: SNOMEDCT_US_2020_03_01:54304004
in_subset: NCIthesaurus
imported from: doid.owl

juvenile pilocytic astrocytoma
type: Class
subclass of: pilocytic astrocytoma
database_cross_reference: MESH:D001254
definition: A pilocytic astrocytoma that occurs during adolescence.
database_cross_reference: UMLS_CUI:C0280783
id: DOID:6811
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C27081
in_subset: NCIthesaurus
imported from: doid.owl

hepatocellular carcinoma
type: Class
subclass of: liver carcinoma
database_cross_reference: ICD10CM:C22.0
database_cross_reference: EFO:0000182
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICDO:M8170/3
database_cross_reference: OMIM:114550
database_cross_reference: NCI:C3099
database_cross_reference: SNOMEDCT_US_2019_09_01:109841003
has_alternative_id: DOID:5005
id: DOID:684
definition: A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
database_cross_reference: ORDO:88673
has_exact_synonym: Hepatoma
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

familial melanoma
type: Class
subclass of: melanoma
has_obo_namespace: disease_ontology
id: DOID:6846
database_cross_reference: UMLS_CUI:C1512419
database_cross_reference: NCI:C8498
in_subset: NCIthesaurus
imported from: doid.owl

liver carcinoma
type: Class
subclass of: carcinoma
subclass of: liver cancer
has_obo_namespace: disease_ontology
definition: A liver cancer that has_material_basis_in epithelial cells.
database_cross_reference: NCI:C7927
id: DOID:686
database_cross_reference: UMLS_CUI:C0279000
has_exact_synonym: Liver and Intrahepatic bile duct carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

hepatoblastoma
type: Class
subclass of: liver cancer
id: DOID:687
database_cross_reference: NCI:C3728
database_cross_reference: UMLS_CUI:C0206624
database_cross_reference: SNOMEDCT_US_2020_03_01:109843000
database_cross_reference: MESH:D018197
database_cross_reference: ICD10CM:C22.2
has_obo_namespace: disease_ontology
database_cross_reference: GARD:2657
database_cross_reference: ICDO:M8970/3
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

embryonal cancer
type: Class
subclass of: germ cell cancer
database_cross_reference: NCI:C3264
database_cross_reference: MESH:D009373
database_cross_reference: UMLS_CUI:C0027654
definition: A germ cell cancer that is associated with an embryo.
id: DOID:688
has_obo_namespace: disease_ontology
has_exact_synonym: embryo neoplasm
has_exact_synonym: embryonal neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

eye lymphoma
type: Class
subclass of: lymphoma
subclass of: ocular cancer
database_cross_reference: NCI:C35690
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1333519
id: DOID:6903
definition: A lymphoma by site that is manifested in immune system cells called lymphocytes.
in_subset: NCIthesaurus
imported from: doid.owl

peroneal nerve paralysis
type: Class
subclass of: peripheral nervous system disease
database_cross_reference: MESH:D020427
has_obo_namespace: disease_ontology
id: DOID:6925
database_cross_reference: NCI:C27061
has_exact_synonym: Peroneal nerve palsy
database_cross_reference: SNOMEDCT_US_2020_03_01:34553007
database_cross_reference: UMLS_CUI:C0270810
database_cross_reference: ICD10CM:G57.3
in_subset: NCIthesaurus
imported from: doid.owl

retinal edema
type: Class
subclass of: retinal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:6141006
id: DOID:6929
database_cross_reference: ICD9CM:362.83
database_cross_reference: UMLS_CUI:C0242420
database_cross_reference: MESH:D010211
database_cross_reference: ICD10CM:H35.81
has_obo_namespace: disease_ontology
imported from: doid.owl

dental enamel hypoplasia
type: Class
subclass of: teeth hard tissue disease
id: DOID:693
has_exact_synonym: Enamel Hypoplasia
database_cross_reference: NCI:C34529
has_exact_synonym: Enamel hypoplasia
database_cross_reference: UMLS_CUI:C0011351
database_cross_reference: MESH:D003744
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:699382004
in_subset: NCIthesaurus
imported from: doid.owl

bladder transitional cell papilloma
type: Class
subclass of: bladder papillary transitional cell neoplasm
database_cross_reference: UMLS_CUI:C1384678
database_cross_reference: NCI:C39858
database_cross_reference: SNOMEDCT_US_2020_03_01:189459005
has_alternative_id: DOID:2141
database_cross_reference: SNOMEDCT_US_2020_03_01:45083001
has_obo_namespace: disease_ontology
id: DOID:6933
database_cross_reference: NCI:C3842
database_cross_reference: UMLS_CUI:C0235754
has_exact_synonym: Urothelial papilloma
has_exact_synonym: bladder papilloma
has_exact_synonym: transitional cell papilloma of bladder
has_exact_synonym: urinary bladder Urothelial papilloma
in_subset: NCIthesaurus
imported from: doid.owl

telangiectatic osteogenic sarcoma
type: Class
subclass of: conventional central osteosarcoma
database_cross_reference: UMLS_CUI:C0259782
id: DOID:6951
database_cross_reference: SNOMEDCT_US_2020_03_01:78453009
database_cross_reference: NCI:C3902
has_exact_synonym: Telangiectatic osteosarcoma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

acute inflammation of lacrimal passage
type: Class
subclass of: lacrimal apparatus disease
database_cross_reference: SNOMEDCT_US_2020_03_01:302900006
database_cross_reference: ICD9CM:375.3
id: DOID:6970
database_cross_reference: ICD10CM:H04.3
database_cross_reference: UMLS_CUI:C0339129
has_obo_namespace: disease_ontology
imported from: doid.owl

pancreatic cholera
type: Class
subclass of: endocrine pancreas disease
database_cross_reference: UMLS_CUI:C0086768
database_cross_reference: SNOMEDCT_US_2020_03_01:70091000
id: DOID:6977
has_exact_synonym: Excessive vasoactive intestinal peptide secretion
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D003969
database_cross_reference: NCI:C3488
has_exact_synonym: Verner-Morrison syndrome
has_exact_synonym: pancreatic WDHA syndrome
in_subset: NCIthesaurus
imported from: doid.owl

dentin sensitivity
type: Class
subclass of: teeth hard tissue disease
id: DOID:698
database_cross_reference: NCI:C50778
database_cross_reference: UMLS_CUI:C0011432
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:13468005
database_cross_reference: MESH:D003807
has_exact_synonym: Sensitive dentin
in_subset: NCIthesaurus
imported from: doid.owl

mitochondrial myopathy
type: Class
subclass of: myopathy
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0162670
database_cross_reference: SNOMEDCT_US_2020_03_01:240096000
database_cross_reference: NCI:C101328
database_cross_reference: OMIM:251900
id: DOID:699
definition: A myopathy that is characterized by mitochondrial dysfunction.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D017240
has_exact_synonym: mitochondrial cytopathy
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

disease of anatomical entity
type: Class
subclass of: disease
id: DOID:7
has_alternative_id: DOID:5
has_alternative_id: DOID:2
has_alternative_id: DOID:1
has_alternative_id: DOID:8
definition: A disease that manifests in a defined anatomical structure.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:72
has_alternative_id: DOID:71
imported from: doid.owl

mitochondrial metabolism disease
type: Class
subclass of: inherited metabolic disorder
database_cross_reference: MESH:D028361
database_cross_reference: SNOMEDCT_US_2020_03_01:240096000
database_cross_reference: GARD:7048
id: DOID:700
has_obo_namespace: disease_ontology
definition: An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
database_cross_reference: UMLS_CUI:C0751651
in_subset: DO FlyBase slim
imported from: doid.owl

ACTH-secreting pituitary adenoma
type: Class
subclass of: functioning pituitary adenoma
has_exact_synonym: ACTH-Producing Pituitary Adenoma
database_cross_reference: OMIM:219090
database_cross_reference: SNOMEDCT_US_2020_03_01:254958004
database_cross_reference: GARD:12867
has_exact_synonym: Corticotropinoma
has_obo_namespace: disease_ontology
definition: A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome.
database_cross_reference: MESH:D049913
database_cross_reference: NCI:C7462
id: DOID:7004
has_exact_synonym: Corticotroph adenoma
database_cross_reference: UMLS_CUI:C1306214
comment: OMIM mapping confirmed by DO. [SN].
in_subset: NCIthesaurus
imported from: doid.owl

gemistocytic astrocytoma
type: Class
subclass of: astrocytoma
has_exact_synonym: Gemistocytic Astrocytic tumor
has_exact_synonym: Gemistocytic astrocytoma
database_cross_reference: SNOMEDCT_US_2020_03_01:73982001
database_cross_reference: UMLS_CUI:C0334581
id: DOID:7005
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4321
database_cross_reference: MESH:D001254
in_subset: NCIthesaurus
imported from: doid.owl

dentin dysplasia
type: Class
subclass of: teeth hard tissue disease
database_cross_reference: ICD10CM:K00.5
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:701
database_cross_reference: UMLS_CUI:C0011430
database_cross_reference: ORDO:1635
has_exact_synonym: Dentinal dysplasia
database_cross_reference: MESH:D003805
database_cross_reference: OMIM:125420
database_cross_reference: SNOMEDCT_US_2020_03_01:109492001
database_cross_reference: OMIM:125400
definition: A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology.
has_obo_namespace: disease_ontology
in_subset: DO rare slim
imported from: doid.owl

anisakiasis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: NCI:C128393
database_cross_reference: MESH:D017129
database_cross_reference: SNOMEDCT_US_2020_03_01:442652006
database_cross_reference: ICD10CM:B81.0
definition: A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung.
has_obo_namespace: disease_ontology
database_cross_reference: GARD:693
database_cross_reference: ICD9CM:127.1
has_exact_synonym: Infection by Anisakis larva
database_cross_reference: UMLS_CUI:C0162576
id: DOID:7033
in_subset: NCIthesaurus
imported from: doid.owl

Leber hereditary optic neuropathy
type: Class
subclass of: optic nerve disease
database_cross_reference: UMLS_CUI:C0917796
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:6870
database_cross_reference: MESH:D029242
id: DOID:705
database_cross_reference: NCI:C84808
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:194045006
database_cross_reference: ICD10CM:H47.22
has_exact_synonym: Leber's hereditary optic neuropathy
has_exact_synonym: Leber's optic atrophy
database_cross_reference: OMIM:535000
in_subset: NCIthesaurus
imported from: doid.owl

mature B-cell neoplasm
type: Class
subclass of: B-cell lymphoma
id: DOID:706
database_cross_reference: EFO:0000096
database_cross_reference: NCI:C27910
database_cross_reference: UMLS_CUI:C1334633
has_obo_namespace: disease_ontology
has_exact_synonym: mature B-cell lymphocytic neoplasm
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

B-cell lymphoma
type: Class
subclass of: non-Hodgkin lymphoma
database_cross_reference: NCI:C3457
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0079731
database_cross_reference: SNOMEDCT_US_2020_03_01:109979007
database_cross_reference: MESH:D016393
definition: A non-Hodgkin lymphoma that has_material_basis_in B cells.
has_exact_synonym: B-cell lymphocytic neoplasm
id: DOID:707
database_cross_reference: GARD:5877
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

prostate small cell carcinoma
type: Class
subclass of: prostate cancer
subclass of: carcinoma
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:396198006
database_cross_reference: UMLS_CUI:C1300585
id: DOID:7141
database_cross_reference: NCI:C6766
has_exact_synonym: prostate Oat cell carcinoma
has_exact_synonym: small cell carcinoma of prostate
in_subset: NCIthesaurus
imported from: doid.owl

Langerhans cell sarcoma
type: Class
subclass of: sarcoma
subclass of: histiocytic and dendritic cell cancer
subclass of: leukocyte disease
database_cross_reference: SNOMEDCT_US_2020_03_01:724649000
definition: A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones.
id: DOID:7146
database_cross_reference: ICD10CM:C96.4
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D054752
database_cross_reference: NCI:C6921
database_cross_reference: UMLS_CUI:C1260327
in_subset: NCIthesaurus
imported from: doid.owl

ankylosing spondylitis
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: spinal disease
subclass of: bone inflammation disease
definition: A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
has_exact_synonym: Bekhterev syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:156619005
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:M45
database_cross_reference: GARD:9518
has_exact_synonym: Marie-Strumpell disease
database_cross_reference: ORDO:825
database_cross_reference: ICD9CM:720.0
database_cross_reference: NCI:C84564
database_cross_reference: OMIM:PS106300
id: DOID:7147
has_exact_synonym: Bekhterev's disease
database_cross_reference: EFO:0003898
database_cross_reference: MESH:D013167
database_cross_reference: UMLS_CUI:C0038013
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

rheumatoid arthritis
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: arthritis
database_cross_reference: KEGG:05323
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D001172
database_cross_reference: ICD10CM:M06.9
database_cross_reference: NCI:C2884
database_cross_reference: UMLS_CUI:C0003873
database_cross_reference: SNOMEDCT_US_2020_03_01:156471009
has_obo_namespace: disease_ontology
id: DOID:7148
definition: An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
has_exact_synonym: Arthritis or polyarthritis, rheumatic
database_cross_reference: OMIM:180300
database_cross_reference: ICD9CM:714.0
database_cross_reference: EFO:0000685
has_exact_synonym: atrophic Arthritis
in_subset: NCIthesaurus
imported from: doid.owl

T-cell lymphoblastic leukemia/lymphoma
type: Class
subclass of: T-cell acute lymphoblastic leukemia
id: DOID:715
database_cross_reference: MESH:D015458
has_obo_namespace: disease_ontology
has_exact_synonym: T-cell leukemia
database_cross_reference: UMLS_CUI:C0023492
in_subset: DO cancer slim
imported from: doid.owl

subacute thyroiditis
type: Class
subclass of: thyroiditis
id: DOID:7165
database_cross_reference: MESH:D013968
database_cross_reference: SNOMEDCT_US_2020_03_01:154666006
database_cross_reference: NCI:C35071
database_cross_reference: ICD9CM:245.1
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E06.1
database_cross_reference: UMLS_CUI:C0040149
has_exact_synonym: De Quervain's thyroiditis
has_exact_synonym: Giant-cell thyroiditis
has_exact_synonym: Granulomatous thyroiditis
has_exact_synonym: Subacute Granulomatous Thyroiditis
has_exact_synonym: Subacute Thyroiditis
has_exact_synonym: Subacute thyroiditis
has_exact_synonym: de Quervain's thyroiditis
in_subset: NCIthesaurus
imported from: doid.owl

thyroiditis
type: Class
subclass of: thyroid gland disease
id: DOID:7166
database_cross_reference: ICD9CM:245
database_cross_reference: ICD10CM:E06
database_cross_reference: SNOMEDCT_US_2020_03_01:154664009
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0040147
comment: Updating to more specific UMLS_CUI from C0029495 to C0040147.
database_cross_reference: NCI:C26894
database_cross_reference: MESH:D013966
in_subset: NCIthesaurus
imported from: doid.owl

cloacogenic carcinoma
type: Class
subclass of: anal squamous cell carcinoma
has_exact_synonym: Cloacogenic anal carcinoma
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:84570003
database_cross_reference: UMLS_CUI:C0334273
has_exact_synonym: Cloacogenic carcinoma
id: DOID:7173
database_cross_reference: NCI:C8255
comment: OMIM mapping confirmed by DO. [SN].
in_subset: NCIthesaurus
imported from: doid.owl

autoimmune hemolytic anemia
type: Class
subclass of: autoimmune disease of blood
database_cross_reference: MESH:D000744
database_cross_reference: ICD9CM:283.0
has_obo_namespace: disease_ontology
definition: An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies.
has_exact_synonym: Autoimmune hemolytic anaemia
has_exact_synonym: Autoimmune hemolytic anemia
database_cross_reference: GARD:5870
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0002880
id: DOID:718
database_cross_reference: NCI:C34378
has_exact_synonym: Autoimmune haemolytic anaemia
database_cross_reference: OMIM:205700
database_cross_reference: SNOMEDCT_US_2020_03_01:25121006
has_exact_synonym: autoimmune hemolytic anaemia
in_subset: NCIthesaurus
imported from: doid.owl

subacute lymphocytic thyroiditis
type: Class
subclass of: thyroiditis
database_cross_reference: NCI:C35829
has_obo_namespace: disease_ontology
id: DOID:7187
database_cross_reference: UMLS_CUI:C1306804
database_cross_reference: SNOMEDCT_US_2020_03_01:361126006
has_exact_synonym: Subacute lymphocytic thyroiditis
in_subset: NCIthesaurus
imported from: doid.owl

autoimmune thyroiditis
type: Class
subclass of: autoimmune disease of endocrine system
database_cross_reference: UMLS_CUI:C0920350
id: DOID:7188
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C38766
definition: An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
has_exact_synonym: Chronic Lymphocytic Thyroiditis
has_alternative_id: DOID:0050435
has_exact_synonym: Hashimoto's Disease
has_exact_synonym: Hashimoto's syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:190297000
database_cross_reference: ICD10CM:E06.3
has_exact_synonym: Hashimoto thyroiditis
has_exact_synonym: Lymphocytic Thyroiditis
database_cross_reference: MESH:D013967
has_exact_synonym: Hashimoto's thyroiditis
comment: OMIM mapping confirmed by DO. [SN].
in_subset: NCIthesaurus
imported from: doid.owl

normocytic anemia
type: Class
subclass of: anemia
id: DOID:720
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:300980002
has_exact_synonym: ANEMIA NORMOCYTIC
database_cross_reference: NCI:C35142
database_cross_reference: UMLS_CUI:C0085577
in_subset: NCIthesaurus
imported from: doid.owl

melanomatosis
type: Class
subclass of: melanoma
id: DOID:7206
database_cross_reference: NCI:C9499
database_cross_reference: UMLS_CUI:C1334691
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

psammomatous meningioma
type: Class
subclass of: meningioma
database_cross_reference: UMLS_CUI:C0334607
id: DOID:7210
database_cross_reference: MESH:D008579
database_cross_reference: NCI:C4331
has_exact_synonym: Psammomatous meningioma
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:38431002
in_subset: NCIthesaurus
imported from: doid.owl

fibrous meningioma
type: Class
subclass of: meningioma
database_cross_reference: SNOMEDCT_US_2020_03_01:511008
id: DOID:7211
has_exact_synonym: Fibroblastic meningioma
database_cross_reference: MESH:D008579
database_cross_reference: NCI:C4330
database_cross_reference: UMLS_CUI:C0334606
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

breast giant fibroadenoma
type: Class
subclass of: breast fibroadenoma
definition: A breast fibroadenoma that is larger than 5 cm.
database_cross_reference: NCI:C4273
id: DOID:7223
has_obo_namespace: disease_ontology
has_exact_synonym: Giant Fibroadenoma
has_exact_synonym: Giant fibroadenoma of breast
database_cross_reference: UMLS_CUI:C0346157
database_cross_reference: SNOMEDCT_US_2020_03_01:254846003
in_subset: NCIthesaurus
imported from: doid.owl

female stress incontinence
type: Class
subclass of: bladder disease
database_cross_reference: NCI:C35042
database_cross_reference: ICD9CM:625.6
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:60241006
id: DOID:724
has_exact_synonym: Stress incontinence - female
database_cross_reference: UMLS_CUI:C0038437
has_exact_synonym: female urinary stress incontinence
in_subset: NCIthesaurus
imported from: doid.owl

astroblastoma
type: Class
subclass of: astrocytoma
id: DOID:7305
database_cross_reference: GARD:10635
database_cross_reference: UMLS_CUI:C0334587
database_cross_reference: SNOMEDCT_US_2020_03_01:48952003
has_exact_synonym: Astroblastoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4324
database_cross_reference: MESH:D018302
in_subset: NCIthesaurus
imported from: doid.owl

urinary system benign neoplasm
type: Class
subclass of: organ system benign neoplasm
subclass of: urinary system disease
database_cross_reference: NCI:C3431
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D014571
definition: An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
database_cross_reference: UMLS_CUI:C0042076
id: DOID:731
database_cross_reference: SNOMEDCT_US_2020_03_01:254913005
has_exact_synonym: neoplasm of urinary system
has_exact_synonym: tumor of the urinary system
has_exact_synonym: tumor of urinary tract
has_exact_synonym: urinary tract neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

axonal neuropathy
type: Class
subclass of: neuropathy
database_cross_reference: UMLS_CUI:C0270921
database_cross_reference: SNOMEDCT_US_2020_03_01:60703000
has_obo_namespace: disease_ontology
id: DOID:7319
database_cross_reference: NCI:C27301
in_subset: NCIthesaurus
imported from: doid.owl

urethral disease
type: Class
subclass of: urinary system disease
definition: A urinary system disease that is located_in the urethra.
database_cross_reference: MESH:D014522
database_cross_reference: NCI:C26903
database_cross_reference: ICD10CM:N36.9
id: DOID:732
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0041969
database_cross_reference: SNOMEDCT_US_2020_03_01:4985009
has_exact_synonym: urethra disease
in_subset: NCIthesaurus
imported from: doid.owl

pseudosarcomatous fibromatosis
type: Class
subclass of: fasciitis
database_cross_reference: NCI:C3827
has_obo_namespace: disease_ontology
id: DOID:7327
has_exact_synonym: Fasciitis - nodular
database_cross_reference: UMLS_CUI:C0410005
database_cross_reference: SNOMEDCT_US_2020_03_01:268106003
database_cross_reference: ICD10CM:M72.4
has_exact_synonym: Pseudosarcomatous Fasciitis
has_exact_synonym: Pseudosarcomatous fibromatosis
has_exact_synonym: nodular fasciitis
in_subset: NCIthesaurus
imported from: doid.owl

nephrogenic adenoma of urinary bladder
type: Class
subclass of: bladder benign neoplasm
subclass of: adenoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7415
id: DOID:7333
database_cross_reference: UMLS_CUI:C1336892
has_exact_synonym: Nephrogenic adenoma of the urinary bladder
in_subset: NCIthesaurus
imported from: doid.owl

nephrogenic adenoma
type: Class
subclass of: kidney benign neoplasm
database_cross_reference: UMLS_CUI:C0334039
id: DOID:7334
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:78236000
database_cross_reference: NCI:C97097
in_subset: NCIthesaurus
imported from: doid.owl

urethra cancer
type: Class
subclass of: urinary system cancer
subclass of: urethral disease
database_cross_reference: UMLS_CUI:C0153620
database_cross_reference: MESH:D014523
database_cross_reference: NCI:C7507
database_cross_reference: GARD:9390
database_cross_reference: NCI:C9106
database_cross_reference: SNOMEDCT_US_2020_03_01:94123008
has_obo_namespace: disease_ontology
id: DOID:734
has_alternative_id: DOID:737
database_cross_reference: ICD9CM:189.3
database_cross_reference: SNOMEDCT_US_2020_03_01:363459007
definition: An urinary tract cancer that derives_from the tissues of the urethra.
database_cross_reference: UMLS_CUI:C0700101
database_cross_reference: ICD10CM:C68.0
has_related_synonym: cancer of urethra
has_exact_synonym: malignant tumour of urethra
has_exact_synonym: malignant urethral neoplasm
has_exact_synonym: urethral Ca
in_subset: NCIthesaurus
imported from: doid.owl

Kimura disease
type: Class
subclass of: skin disease
id: DOID:7365
database_cross_reference: SNOMEDCT_US_2020_03_01:399894006
database_cross_reference: MESH:D000796
database_cross_reference: GARD:6835
has_exact_synonym: Kimura's disease
database_cross_reference: NCI:C26867
database_cross_reference: UMLS_CUI:C0033838
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

pituitary hypoplasia
type: Class
subclass of: pituitary gland disease
database_cross_reference: NCI:C27343
database_cross_reference: UMLS_CUI:C0948740
id: DOID:7378
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

hematopoietic system disease
type: Class
subclass of: disease of anatomical entity
database_cross_reference: NCI:C26323
database_cross_reference: MESH:D006402
database_cross_reference: SNOMEDCT_US_2020_03_01:154785002
id: DOID:74
definition: A disease of anatomical entity that has_material_basis_in hematopoietic cells.
has_exact_synonym: Blood disease
has_exact_synonym: Blood dyscrasia
has_exact_synonym: DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS
database_cross_reference: ICD9CM:289.9
database_cross_reference: UMLS_CUI:C0018939
has_exact_synonym: Hematological disease
has_exact_synonym: blood disorder
has_exact_synonym: disease of haematopoietic system
has_exact_synonym: disease of hematopoietic system
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D75.9
has_exact_synonym: haematopoietic system disease
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

Nijmegen breakage syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
database_cross_reference: NCI:C4692
has_exact_synonym: Berlin breakage syndrome
database_cross_reference: GARD:3904
has_exact_synonym: NBS
database_cross_reference: SNOMEDCT_US_2020_03_01:234638009
definition: A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
database_cross_reference: OMIM:251260
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D049932
id: DOID:7400
database_cross_reference: ORDO:647
has_exact_synonym: Microcephaly, normal intelligence and immunodeficiency
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Seemanova syndrome II
database_cross_reference: UMLS_CUI:C0398791
has_exact_synonym: Seemanova syndrome type 2
has_exact_synonym: ataxia-telangiectasia variant
has_exact_synonym: immunodeficiency-microcephaly-chromosomal instability syndrome
has_exact_synonym: microcephaly-immunodeficiency-lymphoreticuloma syndrome
in_subset: NCIthesaurus
imported from: doid.owl

cutaneous anthrax
type: Class
subclass of: skin disease
subclass of: anthrax disease
definition: An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center.
database_cross_reference: UMLS_CUI:C0003177
database_cross_reference: GARD:8158
database_cross_reference: SNOMEDCT_US_2020_03_01:84980006
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C531621
database_cross_reference: ICD9CM:022.0
database_cross_reference: ICD10CM:A22.0
id: DOID:7426
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

anthrax disease
type: Class
subclass of: primary bacterial infectious disease
database_cross_reference: ICD10CM:A22
database_cross_reference: ICD9CM:022
database_cross_reference: MESH:D000881
definition: A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.
database_cross_reference: SNOMEDCT_US_2020_03_01:154295005
database_cross_reference: UMLS_CUI:C0003175
has_obo_namespace: disease_ontology
id: DOID:7427
database_cross_reference: NCI:C84565
database_cross_reference: GARD:8157
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

monoclonal gammopathy of uncertain significance
type: Class
subclass of: blood protein disease
id: DOID:7442
definition: A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood.
has_exact_synonym: MGUS
has_exact_synonym: Monoclonal gammopathy of uncertain significance
has_exact_synonym: Monoclonal gammopathy of undetermined significance
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7034
imported from: doid.owl

enterobiasis
type: Class
subclass of: parasitic helminthiasis infectious disease
has_related_synonym: Enterobius vermicularis infection
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:154415009
has_alternative_id: DOID:7458
id: DOID:7457
definition: A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching.
database_cross_reference: ICD10CM:B80
database_cross_reference: MESH:D010123
has_exact_synonym: Oxyuris vermicularis infection
has_related_synonym: Pinworm infection
has_exact_synonym: Threadworm infection
database_cross_reference: UMLS_CUI:C0030100
has_related_synonym: oxyuriasis
imported from: doid.owl

chronic NK-cell lymphocytosis
type: Class
subclass of: hypersensitivity reaction type IV disease
database_cross_reference: SNOMEDCT_US_2020_03_01:722955006
id: DOID:7465
database_cross_reference: NCI:C39591
has_obo_namespace: disease_ontology
definition: A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy.
database_cross_reference: UMLS_CUI:C1512709
has_exact_synonym: NK-cell large granular Lymphocyte Lymphocytosis
in_subset: NCIthesaurus
imported from: doid.owl

malignant pleural mesothelioma
type: Class
subclass of: respiratory system cancer
subclass of: pleural disease
subclass of: squamous cell carcinoma
subclass of: pleural cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:254645002
id: DOID:7474
database_cross_reference: ICD10CM:C45.0
database_cross_reference: NCI:C7376
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0812413
definition: A pleural cancer that has_material_basis_in mesothelium cells.
has_exact_synonym: malignant mesothelioma of pleura
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

diverticulitis
type: Class
subclass of: intestinal disease
database_cross_reference: UMLS_CUI:C0012813
has_obo_namespace: disease_ontology
definition: An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.
database_cross_reference: SNOMEDCT_US_2020_03_01:155779000
database_cross_reference: NCI:C26752
database_cross_reference: MESH:D004238
id: DOID:7475
in_subset: NCIthesaurus
imported from: doid.owl

Osgood-Schlatter's disease
type: Class
subclass of: bone inflammation disease
database_cross_reference: MESH:D055034
has_obo_namespace: disease_ontology
id: DOID:7489
database_cross_reference: NCI:C34874
has_exact_synonym: Osgood-Schlatter disease
has_exact_synonym: Osteochondrosis of proximal tibia
database_cross_reference: UMLS_CUI:C0029376
database_cross_reference: SNOMEDCT_US_2020_03_01:72047008
definition: A bone inflammation disease that involves rupture of the growth plate in children located_in tibia.
has_exact_synonym: Osteochondritis of tibial tubercle
has_exact_synonym: juvenile osteochondrosis of tibial tubercle
in_subset: NCIthesaurus
imported from: doid.owl

lymphatic system disease
type: Class
subclass of: immune system disease
definition: An immune system disease that is located_in the lymphatic system.
has_obo_namespace: disease_ontology
has_exact_synonym: Adenopathy
has_exact_synonym: Lymphangiopathy
database_cross_reference: MESH:D008206
database_cross_reference: UMLS_CUI:C0024228
database_cross_reference: SNOMEDCT_US_2020_03_01:266326002
id: DOID:75
has_exact_synonym: Lymphatic disease
has_exact_synonym: Lymphatic disorder
has_exact_synonym: disease of lympoid system
has_exact_synonym: disorder of lymph node and lymphatics
has_exact_synonym: disorder of lymphatic system
has_exact_synonym: disorder of lymphoid system
has_exact_synonym: lymphatic disorder
has_exact_synonym: lympoid system disease
imported from: doid.owl

peptic ulcer disease
type: Class
subclass of: gastrointestinal system disease
has_alternative_id: DOID:13115
has_alternative_id: DOID:11466
database_cross_reference: ICD10CM:K27
id: DOID:750
has_alternative_id: DOID:12635
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3318
database_cross_reference: ICD9CM:533
database_cross_reference: UMLS_CUI:C0030920
database_cross_reference: MESH:D010437
database_cross_reference: SNOMEDCT_US_2020_03_01:155701001
has_exact_synonym: acute peptic ulcer with hemorrhage
has_exact_synonym: acute peptic ulcer with hemorrhage and perforation
has_exact_synonym: acute peptic ulcer without hemorrhage AND without perforation
has_exact_synonym: acute peptic ulcer without hemorrhage and without perforation
in_subset: NCIthesaurus
imported from: doid.owl

peptic ulcer perforation
type: Class
subclass of: peptic ulcer disease
database_cross_reference: MESH:D010439
database_cross_reference: UMLS_CUI:C0030925
has_obo_namespace: disease_ontology
has_alternative_id: DOID:751
has_exact_synonym: Peptic ulcer with perforation
database_cross_reference: SNOMEDCT_US_2020_03_01:88169003
id: DOID:752
has_exact_synonym: Perforated peptic ulcer
has_exact_synonym: acute peptic ulcer with perforation
imported from: doid.owl

squamous papillomatosis
type: Class
subclass of: gastrointestinal system benign neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:82049002
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C9009
id: DOID:7532
database_cross_reference: UMLS_CUI:C1378340
in_subset: NCIthesaurus
imported from: doid.owl

gonorrhea
type: Class
subclass of: primary bacterial infectious disease
subclass of: fallopian tube disease
subclass of: anus disease
subclass of: uterine disease
subclass of: eye disease
subclass of: urethral disease
database_cross_reference: MESH:D006069
id: DOID:7551
database_cross_reference: SNOMEDCT_US_2020_03_01:186943001
database_cross_reference: ICD9CM:098
has_obo_namespace: disease_ontology
has_alternative_id: DOID:13557
database_cross_reference: UMLS_CUI:C0018081
has_alternative_id: DOID:10409
database_cross_reference: NCI:C92950
database_cross_reference: ICD10CM:A54
definition: A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods.
has_exact_synonym: chronic gonococcal infectious disease of lower genitourinary tract
has_exact_synonym: chronic gonococcal infectious disease of upper genitourinary tract
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

situs inversus
type: Class
subclass of: visceral heterotaxy
database_cross_reference: UMLS_CUI:C0037221
database_cross_reference: SNOMEDCT_US_2020_03_01:157033002
comment: OMIM mapping confirmed by DO. [LS].
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D012857
id: DOID:758
database_cross_reference: NCI:C87121
database_cross_reference: GARD:4883
database_cross_reference: ICD9CM:759.3
database_cross_reference: ICD10CM:Q89.3
has_exact_synonym: Complete transposition
has_exact_synonym: Laterality sequence
database_cross_reference: OMIM:270100
has_exact_synonym: situs inversus viscerum
in_subset: NCIthesaurus
imported from: doid.owl

stomach disease
type: Class
subclass of: gastrointestinal system disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013272
database_cross_reference: SNOMEDCT_US_2020_03_01:196598004
definition: A gastrointestinal system disease that is located_in the stomach.
id: DOID:76
database_cross_reference: NCI:C26886
database_cross_reference: UMLS_CUI:C0038354
has_exact_synonym: Gastropathy
has_related_synonym: gastric disease
has_exact_synonym: stomach disorder
in_subset: NCIthesaurus
imported from: doid.owl

fibrosarcomatous osteosarcoma
type: Class
subclass of: conventional central osteosarcoma
database_cross_reference: SNOMEDCT_US_2020_03_01:12690005
database_cross_reference: NCI:C4020
id: DOID:7603
has_exact_synonym: Fibroblastic osteosarcoma
has_obo_namespace: disease_ontology
has_exact_synonym: Fibrosarcomatous Osteogenic sarcoma
database_cross_reference: UMLS_CUI:C0279602
in_subset: NCIthesaurus
imported from: doid.owl

parathyroid adenoma
type: Class
subclass of: parathyroid gland benign neoplasm
subclass of: adenoma
definition: A parathyroid gland benign neoplam that is located_in the parathyroid.
database_cross_reference: SNOMEDCT_US_2020_03_01:128474007
database_cross_reference: UMLS_CUI:C0262587
id: DOID:7608
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D010282
database_cross_reference: NCI:C3916
has_related_synonym: adenoma of parathyroid
has_exact_synonym: adenoma of the Parathyroid gland
in_subset: NCIthesaurus
imported from: doid.owl

sarcomatosis
type: Class
subclass of: sarcoma
definition: A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body.
database_cross_reference: NCI:C4243
database_cross_reference: UMLS_CUI:C0334451
id: DOID:7615
database_cross_reference: SNOMEDCT_US_2020_03_01:9395006
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

macular holes
type: Class
subclass of: retinal disease
id: DOID:7633
has_exact_synonym: Macular hole
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34795
database_cross_reference: SNOMEDCT_US_2020_03_01:193388002
database_cross_reference: MESH:D012167
database_cross_reference: UMLS_CUI:C0024441
in_subset: NCIthesaurus
imported from: doid.owl

suprasellar meningioma
type: Class
subclass of: meningioma
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1336535
database_cross_reference: NCI:C6776
id: DOID:7634
in_subset: NCIthesaurus
imported from: doid.owl

muscular atrophy
type: Class
subclass of: myopathy
id: DOID:767
database_cross_reference: MESH:D009133
has_exact_synonym: Muscle wasting
database_cross_reference: UMLS_CUI:C0026846
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:267693003
database_cross_reference: NCI:C94834
has_exact_synonym: Amyotrophia
has_exact_synonym: Wasting - muscle
in_subset: NCIthesaurus
imported from: doid.owl

testicular fibroma
type: Class
subclass of: male reproductive organ benign neoplasm
id: DOID:7675
database_cross_reference: NCI:C39951
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1515282
in_subset: NCIthesaurus
imported from: doid.owl

retinoblastoma
type: Class
subclass of: retinal cell cancer
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: GARD:7563
definition: A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
database_cross_reference: OMIM:180200
database_cross_reference: NCI:C7541
has_exact_synonym: RB
has_exact_synonym: RB - Retinoblastoma
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:154553002
database_cross_reference: MESH:D012175
database_cross_reference: UMLS_CUI:C0035335
id: DOID:768
has_exact_synonym: neuroblastoma of Retina
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

neuroblastoma
type: Class
subclass of: autonomic nervous system neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:432328008
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICDO:M9500/3
database_cross_reference: UMLS_CUI:C0027819
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7185
id: DOID:769
database_cross_reference: ORDO:635
database_cross_reference: NCI:C3270
definition: An autonomic nervous system neoplasm that derives_from immature nerve cells.
database_cross_reference: MESH:D009447
database_cross_reference: EFO:0000621
in_subset: DO cancer slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

abdominal aortic aneurysm
type: Class
subclass of: aortic aneurysm
database_cross_reference: GARD:9181
database_cross_reference: OMIM:609782
database_cross_reference: MESH:D017544
database_cross_reference: OMIM:100070
has_exact_synonym: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:614375
database_cross_reference: SNOMEDCT_US_2020_03_01:155422008
database_cross_reference: EFO:0004214
database_cross_reference: OMIM:611891
id: DOID:7693
database_cross_reference: NCI:C27000
definition: An aortic aneurysm that is located_in the abdominal aorta.
database_cross_reference: UMLS_CUI:C0162871
in_subset: NCIthesaurus
imported from: doid.owl

gastrointestinal system disease
type: Class
subclass of: disease of anatomical entity
database_cross_reference: SNOMEDCT_US_2020_03_01:53619000
has_alternative_id: DOID:944
database_cross_reference: ICD9CM:520-579.99
id: DOID:77
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0012242
has_alternative_id: DOID:27
database_cross_reference: ICD10CM:K92.9
definition: A disease of anatomical entity that is located_in the gastrointestinal tract.
has_exact_synonym: GIT disease
has_exact_synonym: Gastroenteropathy
database_cross_reference: MESH:D004066
has_exact_synonym: alimentary system disease
has_exact_synonym: digestive system disorder
has_exact_synonym: gastrointestinal disease
has_exact_synonym: gastrointestinal disorder
in_subset: DO AGR slim
in_subset: DO GXD slim
in_subset: DO MGI slim
imported from: doid.owl

retinal cell cancer
type: Class
subclass of: retinal cancer
database_cross_reference: UMLS_CUI:C1335765
definition: A malignant neoplasm that derives_from the retina.
has_obo_namespace: disease_ontology
id: DOID:771
database_cross_reference: NCI:C7061
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

epilepsy with generalized tonic-clonic seizures
type: Class
subclass of: adolescence-adult electroclinical syndrome
database_cross_reference: UMLS_CUI:C0014549
has_obo_namespace: disease_ontology
id: DOID:7725
has_exact_synonym: Grand Mal epilepsy
database_cross_reference: MESH:D004830
database_cross_reference: SNOMEDCT_US_2020_03_01:352818000
definition: An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.
database_cross_reference: NCI:C3022
has_exact_synonym: Epileptic seizures, tonic-clonic
comment: JA:Epilepsy Genetics Kiel
has_exact_synonym: tonic-clonic epilepsy
in_subset: NCIthesaurus
imported from: doid.owl

retinal telangiectasia
type: Class
subclass of: retinal vascular disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154835
id: DOID:7736
database_cross_reference: ICD9CM:362.15
database_cross_reference: SNOMEDCT_US_2020_03_01:84884003
imported from: doid.owl

intraocular lymphoma
type: Class
subclass of: eye lymphoma
database_cross_reference: UMLS_CUI:C0281658
has_alternative_id: DOID:7746
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D064090
id: DOID:775
database_cross_reference: NCI:C9184
has_exact_synonym: primary intraocular lymphoma
in_subset: NCIthesaurus
imported from: doid.owl

Coats disease
type: Class
subclass of: retinal telangiectasia
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D058456
id: DOID:7765
database_cross_reference: OMIM:300216
database_cross_reference: UMLS_CUI:C0154832
database_cross_reference: ICD9CM:362.12
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Coats' disease
has_exact_synonym: Coats' syndrome
has_exact_synonym: Exudative retinopathy
database_cross_reference: GARD:6121
database_cross_reference: SNOMEDCT_US_2020_03_01:193359003
database_cross_reference: ICD10CM:H35.02
imported from: doid.owl

delusional disorder
type: Class
subclass of: psychotic disorder
id: DOID:778
definition: A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C94379
database_cross_reference: SNOMEDCT_US_2020_03_01:48500005
database_cross_reference: MESH:D012563
database_cross_reference: ICD10CM:F22
database_cross_reference: ICD9CM:297.1
database_cross_reference: UMLS_CUI:C0011251
in_subset: NCIthesaurus
imported from: doid.owl

placenta disease
type: Class
subclass of: uterine disease
database_cross_reference: UMLS_CUI:C0151864
database_cross_reference: ICD9CM:646.9
database_cross_reference: NCI:C26857
database_cross_reference: MESH:D010922
database_cross_reference: SNOMEDCT_US_2020_03_01:172422001
has_alternative_id: DOID:9219
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0032962
database_cross_reference: ICD10CM:O43
database_cross_reference: UMLS_CUI:C0032045
database_cross_reference: SNOMEDCT_US_2020_03_01:125586008
database_cross_reference: NCI:C34941
has_alternative_id: DOID:1815
database_cross_reference: UMLS_CUI:C1335423
database_cross_reference: MESH:D011248
has_alternative_id: DOID:5366
database_cross_reference: NCI:C27619
definition: A uterine disease that is located_in the placenta.
database_cross_reference: NCI:C35169
id: DOID:780
database_cross_reference: SNOMEDCT_US_2020_03_01:198881004
database_cross_reference: GARD:7402
in_subset: NCIthesaurus
imported from: doid.owl

petroclival meningioma
type: Class
subclass of: skull base meningioma
has_obo_namespace: disease_ontology
id: DOID:7818
database_cross_reference: NCI:C5278
database_cross_reference: UMLS_CUI:C1335395
in_subset: NCIthesaurus
imported from: doid.owl

end stage renal disease
type: Class
subclass of: chronic kidney disease
database_cross_reference: ICD9CM:585.6
has_obo_namespace: disease_ontology
id: DOID:783
has_exact_synonym: end stage renal failure
has_exact_synonym: end-stage kidney disease
definition: A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.
imported from: doid.owl

chronic kidney disease
type: Class
subclass of: kidney failure
database_cross_reference: ICD10CM:N18.9
id: DOID:784
database_cross_reference: UMLS_CUI:C0022661
database_cross_reference: MESH:D007676
has_exact_synonym: CKD
has_exact_synonym: CRF
database_cross_reference: NCI:C9438
database_cross_reference: ICD9CM:585.6
definition: A kidney failure that is characterized by the gradual loss of kidney function.
database_cross_reference: SNOMEDCT_US_2020_03_01:155856009
has_exact_synonym: chronic kidney failure
has_exact_synonym: chronic renal disease
has_exact_synonym: chronic renal failure syndrome
has_obo_namespace: disease_ontology
has_exact_synonym: renal failure - chronic
in_subset: NCIthesaurus
imported from: doid.owl

female breast carcinoma
type: Class
subclass of: breast carcinoma
definition: A breast carcinoma that is manifested in the female breast.
id: DOID:7843
database_cross_reference: NCI:C2918
database_cross_reference: UMLS_CUI:C0007104
has_exact_synonym: Mammary carcinoma of female breast
has_related_synonym: carcinoma of female breast
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

dendritic cell sarcoma
type: Class
subclass of: sarcoma
subclass of: histiocytic and dendritic cell cancer
id: DOID:7849
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C27260
database_cross_reference: SNOMEDCT_US_2020_03_01:397355008
definition: A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes.
has_exact_synonym: Dendritic cell sarcoma
has_exact_synonym: Dendritic cell sarcoma, not otherwise specified
database_cross_reference: UMLS_CUI:C1301364
has_related_synonym: follicular dendritic cell sarcoma
in_subset: NCIthesaurus
imported from: doid.owl

laryngeal disease
type: Class
subclass of: upper respiratory tract disease
database_cross_reference: NCI:C26810
database_cross_reference: ICD9CM:478.70
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:S12.8
database_cross_reference: MESH:D007818
id: DOID:786
database_cross_reference: SNOMEDCT_US_2020_03_01:195863001
database_cross_reference: UMLS_CUI:C0023051
in_subset: NCIthesaurus
imported from: doid.owl

luteoma
type: Class
subclass of: ovarian benign neoplasm
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1517842
id: DOID:7880
database_cross_reference: NCI:C40445
definition: An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium.
has_exact_synonym: leuteoma of pregnancy
has_exact_synonym: luteoma of pregnancy
in_subset: NCIthesaurus
imported from: doid.owl

mite infestation
type: Class
subclass of: parasitic ectoparasitic infectious disease
id: DOID:7894
database_cross_reference: MESH:D008924
database_cross_reference: ICD9CM:133
database_cross_reference: ICD10CM:B88.9
database_cross_reference: UMLS_CUI:C0026229
has_obo_namespace: disease_ontology
definition: A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae.
database_cross_reference: SNOMEDCT_US_2020_03_01:78166003
imported from: doid.owl

ocular hypotension
type: Class
subclass of: eye disease
database_cross_reference: UMLS_CUI:C0028841
database_cross_reference: ICD10CM:H44.4
database_cross_reference: ICD9CM:360.3
database_cross_reference: MESH:D015814
database_cross_reference: SNOMEDCT_US_2020_03_01:23670006
has_obo_namespace: disease_ontology
id: DOID:790
has_exact_synonym: Hypotony of eye
imported from: doid.owl

epithelial malignant thymoma
type: Class
subclass of: dendritic cell thymoma
database_cross_reference: SNOMEDCT_US_2020_03_01:128715000
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7997
database_cross_reference: UMLS_CUI:C0279705
id: DOID:7926
has_exact_synonym: Squamoid Thymoma
has_exact_synonym: Thymoma, epithelial
has_exact_synonym: Well differentiated thymic carcinoma
in_subset: NCIthesaurus
imported from: doid.owl

varicose veins
type: Class
subclass of: vein disease
database_cross_reference: NCI:C35114
database_cross_reference: ICD10CM:I83.90
definition: A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
id: DOID:799
database_cross_reference: MESH:D014648
database_cross_reference: OMIM:192200
database_cross_reference: SNOMEDCT_US_2020_03_01:276504003
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0042345
has_exact_synonym: Varix
has_exact_synonym: Venous ectasia
has_exact_synonym: Venous varices
has_exact_synonym: varices
in_subset: NCIthesaurus
imported from: doid.owl

thyrotoxicosis
type: Class
subclass of: thyroid gland disease
database_cross_reference: ICD10CM:E05.9
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C61469
definition: A thyroid gland disease that is characterized by excess thyroid hormone.
database_cross_reference: ICD9CM:242
database_cross_reference: MESH:D013971
database_cross_reference: SNOMEDCT_US_2020_03_01:154655004
database_cross_reference: UMLS_CUI:C0040156
comment: OMIM mapping confirmed by DO. [LS].
id: DOID:7997
in_subset: NCIthesaurus
imported from: doid.owl

hyperthyroidism
type: Class
subclass of: thyroid gland disease
comment: Xref MGI.
database_cross_reference: ORDO:99819
database_cross_reference: ICD10CM:E05.9
database_cross_reference: UMLS_CUI:C0020550
definition: A thyroid gland disease that involves an over production of thyroid hormone.
database_cross_reference: OMIM:603373
database_cross_reference: MESH:D006980
database_cross_reference: SNOMEDCT_US_2020_03_01:190239004
database_cross_reference: NCI:C3123
id: DOID:7998
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:609152
has_exact_synonym: overactive thyroid
in_subset: NCIthesaurus
imported from: doid.owl

alveoli adenoma
type: Class
subclass of: bronchial benign neoplasm
subclass of: adenoma
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C4140
database_cross_reference: SNOMEDCT_US_2020_03_01:8097004
id: DOID:8003
has_exact_synonym: Alveolar adenoma
database_cross_reference: UMLS_CUI:C0334303
has_exact_synonym: adenoma of alveoli
has_related_synonym: adenoma of the alveoli
in_subset: NCIthesaurus
imported from: doid.owl

hemarthrosis
type: Class
subclass of: arthropathy
has_alternative_id: DOID:12025
has_alternative_id: DOID:13059
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14242
has_alternative_id: DOID:800
has_alternative_id: DOID:13933
id: DOID:801
database_cross_reference: ICD10CM:M25.0
has_alternative_id: DOID:953
database_cross_reference: UMLS_CUI:C0018924
has_alternative_id: DOID:13646
has_exact_synonym: Haemarthrosis of shoulder joint
database_cross_reference: ICD9CM:719.1
database_cross_reference: MESH:D006395
has_exact_synonym: Haemarthrosis of the ankle and foot
has_exact_synonym: Haemarthrosis of the pelvic region and thigh
has_exact_synonym: Hemarthrosis involving ankle and foot
has_exact_synonym: Hemarthrosis involving forearm
has_exact_synonym: Hemarthrosis involving hand
has_exact_synonym: Hemarthrosis involving lower leg
has_exact_synonym: Hemarthrosis involving pelvic region and thigh
has_exact_synonym: Hemarthrosis involving shoulder region
has_exact_synonym: Hemarthrosis involving upper arm
has_exact_synonym: Hemarthrosis of ankle and/or foot
has_exact_synonym: Hemarthrosis of forearm
has_exact_synonym: Hemarthrosis of hand
has_exact_synonym: Hemarthrosis of lower leg
has_exact_synonym: Hemarthrosis of shoulder
has_exact_synonym: Hemarthrosis of shoulder region
has_exact_synonym: Hemarthrosis of the ankle and foot
has_exact_synonym: Hemarthrosis of the ankle and/or foot
has_exact_synonym: Hemarthrosis of the forearm
has_exact_synonym: Hemarthrosis of the hand
has_exact_synonym: Hemarthrosis of the lower leg
has_exact_synonym: Hemarthrosis of the shoulder region
has_exact_synonym: Hemarthrosis of the upper arm
has_exact_synonym: Hemarthrosis of upper arm
database_cross_reference: SNOMEDCT_US_2020_03_01:156581006
has_exact_synonym: Hemarthrosis of the pelvic region and thigh
imported from: doid.owl

sporadic breast cancer
type: Class
subclass of: breast carcinoma
has_obo_namespace: disease_ontology
id: DOID:8029
database_cross_reference: NCI:C7566
database_cross_reference: UMLS_CUI:C1336076
definition: A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.
in_subset: NCIthesaurus
imported from: doid.owl

pineal region meningioma
type: Class
subclass of: meningioma
subclass of: pineal gland cancer
database_cross_reference: UMLS_CUI:C1335418
id: DOID:8031
database_cross_reference: NCI:C6756
has_exact_synonym: Pineal meningioma
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

frontal sinus inverted papilloma
type: Class
subclass of: frontal sinus benign neoplasm
subclass of: papilloma
id: DOID:8060
has_exact_synonym: Inverted papilloma of the Frontal sinus
database_cross_reference: UMLS_CUI:C1333644
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C6842
in_subset: NCIthesaurus
imported from: doid.owl

carotid artery occlusion
type: Class
subclass of: carotid artery disease
subclass of: occlusion precerebral artery
database_cross_reference: UMLS_CUI:C0375275
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:433.10
id: DOID:807
has_exact_synonym: Occlusion and stenosis of carotid artery
imported from: doid.owl

cocaine abuse
type: Class
subclass of: substance abuse
definition: A substance abuse that involves the recurring use of cocaine despite negative consequences.
database_cross_reference: ICD9CM:305.6
database_cross_reference: UMLS_CUI:C0009171
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D019970
database_cross_reference: ICD10CM:F14.1
database_cross_reference: SNOMEDCT_US_2020_03_01:78267003
id: DOID:809
imported from: doid.owl

lipodystrophy
type: Class
subclass of: connective tissue disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E88.1
database_cross_reference: NCI:C97093
definition: A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.
database_cross_reference: ICD9CM:272.6
database_cross_reference: UMLS_CUI:C0023787
id: DOID:811
database_cross_reference: MESH:D008060
database_cross_reference: SNOMEDCT_US_2020_03_01:190789006
in_subset: NCIthesaurus
imported from: doid.owl

osteochondrosis
type: Class
subclass of: ischemic bone disease
id: DOID:8125
database_cross_reference: UMLS_CUI:C0029429
database_cross_reference: NCI:C34879
definition: An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone.
has_alternative_id: DOID:7490
has_exact_synonym: Epiphyseal necrosis
database_cross_reference: SNOMEDCT_US_2020_03_01:203398006
database_cross_reference: ICD9CM:732.6
database_cross_reference: ICD10CM:M92
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:M93.9
database_cross_reference: MESH:D055034
has_exact_synonym: Osteochondrosis
database_cross_reference: SNOMEDCT_US_2020_03_01:65477003
database_cross_reference: UMLS_CUI:C0158445
has_exact_synonym: apophysitis
has_exact_synonym: epiphysitis
has_exact_synonym: osteochondritis
has_exact_synonym: osteochondritis juvenilis
in_subset: NCIthesaurus
imported from: doid.owl

septic arthritis
type: Class
subclass of: arthritis
has_alternative_id: DOID:10920
database_cross_reference: UMLS_CUI:C0157845
database_cross_reference: UMLS_CUI:C0157844
database_cross_reference: UMLS_CUI:C0157843
database_cross_reference: SNOMEDCT_US_2020_03_01:201597006
has_alternative_id: DOID:1683
database_cross_reference: SNOMEDCT_US_2020_03_01:201595003
database_cross_reference: SNOMEDCT_US_2020_03_01:201599009
database_cross_reference: ICD9CM:711.93
database_cross_reference: UMLS_CUI:C0003869
database_cross_reference: ICD9CM:711.92
database_cross_reference: ICD9CM:711.91
database_cross_reference: ICD9CM:711.90
database_cross_reference: ICD9CM:711.97
database_cross_reference: ICD9CM:711.96
database_cross_reference: ICD9CM:711.95
database_cross_reference: ICD9CM:711.94
definition: An arthritis that involves infection by a pathogen located_in joint.
has_alternative_id: DOID:14519
id: DOID:813
has_alternative_id: DOID:812
database_cross_reference: SNOMEDCT_US_2020_03_01:428437005
has_alternative_id: DOID:12314
database_cross_reference: NCI:C26700
database_cross_reference: MESH:D001170
database_cross_reference: SNOMEDCT_US_2020_03_01:372938004
database_cross_reference: ICD10CM:M00
has_alternative_id: DOID:2003
has_alternative_id: DOID:2002
database_cross_reference: SNOMEDCT_US_2020_03_01:201594004
database_cross_reference: UMLS_CUI:C0157849
database_cross_reference: UMLS_CUI:C0157848
database_cross_reference: UMLS_CUI:C0157847
database_cross_reference: UMLS_CUI:C0157846
database_cross_reference: SNOMEDCT_US_2020_03_01:201596002
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:201598001
database_cross_reference: GARD:6781
has_exact_synonym: infectious arthritis
in_subset: NCIthesaurus
imported from: doid.owl

gallbladder lymphoma
type: Class
subclass of: lymphoma
subclass of: gallbladder cancer
database_cross_reference: UMLS_CUI:C1333748
id: DOID:8135
has_exact_synonym: Lymphoma of the gallbladder
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5734
in_subset: NCIthesaurus
imported from: doid.owl

thyroid Hurthle cell adenoma
type: Class
subclass of: follicular adenoma
database_cross_reference: UMLS_CUI:C1336750
has_obo_namespace: disease_ontology
id: DOID:8162
database_cross_reference: NCI:C6042
has_exact_synonym: benign oncocytoma of the thyroid
in_subset: NCIthesaurus
imported from: doid.owl

gallbladder melanoma
type: Class
subclass of: melanoma
subclass of: gallbladder cancer
database_cross_reference: NCI:C5735
id: DOID:8167
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1333749
has_exact_synonym: malignant melanoma of gallbladder
in_subset: NCIthesaurus
imported from: doid.owl

mediastinitis
type: Class
subclass of: connective tissue disease
id: DOID:819
database_cross_reference: ICD9CM:519.2
database_cross_reference: NCI:C26827
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:47597000
database_cross_reference: UMLS_CUI:C0025064
database_cross_reference: ICD10CM:J98.51
definition: A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities.
database_cross_reference: MESH:D008480
in_subset: NCIthesaurus
imported from: doid.owl

myocarditis
type: Class
subclass of: extrinsic cardiomyopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:50920009
database_cross_reference: MESH:D009205
database_cross_reference: ICD9CM:429.0
database_cross_reference: ICD10CM:I51.4
definition: An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
database_cross_reference: UMLS_CUI:C0027059
has_obo_namespace: disease_ontology
database_cross_reference: KEGG:05416
database_cross_reference: GARD:7137
id: DOID:820
has_exact_synonym: Myocardial inflammation
database_cross_reference: NCI:C34831
in_subset: NCIthesaurus
imported from: doid.owl

tertiary syphilis
type: Class
subclass of: syphilis
database_cross_reference: MESH:C536774
id: DOID:8200
database_cross_reference: ICD10CM:A52
database_cross_reference: ICD9CM:097.0
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0153188
database_cross_reference: NCI:C128414
database_cross_reference: SNOMEDCT_US_2020_03_01:72083004
definition: A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems.
has_exact_synonym: late syphilis
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

periapical periodontitis
type: Class
subclass of: periodontitis
database_cross_reference: MESH:D010485
database_cross_reference: UMLS_CUI:C0031030
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K04.5
database_cross_reference: SNOMEDCT_US_2020_03_01:39273001
has_exact_synonym: Apical periodontitis
id: DOID:823
imported from: doid.owl

periodontitis
type: Class
subclass of: periodontal disease
database_cross_reference: MESH:D010518
database_cross_reference: SNOMEDCT_US_2020_03_01:266491004
id: DOID:824
database_cross_reference: EFO:0000649
database_cross_reference: NCI:C34918
database_cross_reference: UMLS_CUI:C0031099
database_cross_reference: ICD10CM:K05.3
has_exact_synonym: chronic pericementitis
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

peritonitis
type: Class
subclass of: gastrointestinal system disease
id: DOID:8283
database_cross_reference: UMLS_CUI:C0029823
database_cross_reference: ICD9CM:567.8
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:197183001
has_alternative_id: DOID:8863
has_alternative_id: DOID:8694
has_alternative_id: DOID:9233
definition: A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.
has_exact_synonym: Retractile mesenteritis
has_exact_synonym: acute generalized peritonitis
has_exact_synonym: primary bacterial peritonitis
has_exact_synonym: sclerosing mesenteritis
imported from: doid.owl

scabies
type: Class
subclass of: mite infestation
database_cross_reference: SNOMEDCT_US_2020_03_01:266224002
database_cross_reference: UMLS_CUI:C0036262
database_cross_reference: ICD10CM:B86
id: DOID:8295
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34998
database_cross_reference: MESH:D012532
definition: A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.
database_cross_reference: ICD9CM:133.0
has_exact_synonym: Infestation by Sarcoptes scabiei
has_exact_synonym: Infestation by Sarcoptes scabiei var hominis
has_exact_synonym: Sarcoptic itch
in_subset: NCIthesaurus
imported from: doid.owl

cataract
type: Class
subclass of: monogenic disease
subclass of: lens disease
database_cross_reference: UMLS_CUI:C0029531
comment: Xref MGI.
id: DOID:83
database_cross_reference: ICD9CM:366.8
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H26
database_cross_reference: SNOMEDCT_US_2020_03_01:193620000
database_cross_reference: OMIM:PS116200
database_cross_reference: OMIM:601371
definition: A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
imported from: doid.owl

mixed endometrial stromal and smooth muscle tumor
type: Class
subclass of: uterine corpus cancer
definition: A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1513364
database_cross_reference: NCI:C40178
id: DOID:8302
has_exact_synonym: Stromomyoma
in_subset: NCIthesaurus
imported from: doid.owl

auditory system cancer
type: Class
subclass of: sensory system cancer
subclass of: auditory system disease
database_cross_reference: MESH:D004428
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3000
database_cross_reference: UMLS_CUI:C0013449
definition: An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.
database_cross_reference: SNOMEDCT_US_2020_03_01:363228008
id: DOID:833
in_subset: NCIthesaurus
imported from: doid.owl

appendicitis
type: Class
subclass of: cecal disease
database_cross_reference: ICD10CM:K37
database_cross_reference: NCI:C35145
definition: A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.
has_alternative_id: DOID:10947
database_cross_reference: SNOMEDCT_US_2020_03_01:155729003
database_cross_reference: UMLS_CUI:C0003615
id: DOID:8337
database_cross_reference: MESH:D001064
has_exact_synonym: acute appendicitis
has_exact_synonym: acute appendicitis with generalized peritonitis
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:540-543.99
has_alternative_id: DOID:10275
has_alternative_id: DOID:10276
has_exact_synonym: acute appendicitis with peritoneal abscess
in_subset: NCIthesaurus
imported from: doid.owl

complement component 3 deficiency
type: Class
subclass of: complement deficiency
comment: Xref MGI.
database_cross_reference: UMLS_CUI:C1332655
database_cross_reference: OMIM:613779
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:280133
definition: A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.
has_exact_synonym: C3 deficiency
database_cross_reference: NCI:C9468
id: DOID:8354
database_cross_reference: SNOMEDCT_US_2020_03_01:771443008
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

osteoarthritis
type: Class
subclass of: arthritis
comment: Xref MGI.
has_obo_namespace: disease_ontology
definition: An arthritis that has_material_basis_in worn out cartilage located_in joint.
id: DOID:8398
database_cross_reference: EFO:0002506
database_cross_reference: UMLS_CUI:C0157946
database_cross_reference: ICD9CM:715.3
has_exact_synonym: Osteoarthrosis and allied disorder
has_exact_synonym: degenerative arthritis
has_exact_synonym: degenerative joint disease
has_exact_synonym: hypertrophic arthritis
has_exact_synonym: osteoarthrosis
imported from: doid.owl

osteochondritis dissecans
type: Class
subclass of: ischemic bone disease
database_cross_reference: ICD10CM:M93.2
database_cross_reference: NCI:C34878
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:M93.9
database_cross_reference: ICD9CM:732.7
database_cross_reference: NCI:C34877
database_cross_reference: MESH:D010007
database_cross_reference: GARD:12703
database_cross_reference: MESH:D010008
id: DOID:84
database_cross_reference: SNOMEDCT_US_2020_03_01:156821002
database_cross_reference: SNOMEDCT_US_2020_03_01:70736000
database_cross_reference: OMIM:165800
has_alternative_id: DOID:87
definition: An ischemic bone disease that results_in necrosis located_in epiphysis.
has_exact_synonym: OCD
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029420
database_cross_reference: UMLS_CUI:C0029421
in_subset: NCIthesaurus
imported from: doid.owl

extrinsic allergic alveolitis
type: Class
subclass of: allergic disease
subclass of: interstitial lung disease
definition: An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.
has_alternative_id: DOID:2707
database_cross_reference: UMLS_CUI:C0002390
database_cross_reference: SNOMEDCT_US_2020_03_01:155581001
id: DOID:841
database_cross_reference: GARD:12
database_cross_reference: NCI:C34369
database_cross_reference: ICD10CM:J67.9
database_cross_reference: MESH:D000542
database_cross_reference: ICD9CM:495
has_exact_synonym: alveolitis
has_obo_namespace: disease_ontology
has_exact_synonym: hypersensitivity pneumonitis
in_subset: NCIthesaurus
imported from: doid.owl

kidney angiomyolipoma
type: Class
subclass of: kidney benign neoplasm
has_obo_namespace: disease_ontology
has_exact_synonym: Angiomyolipoma of kidney
database_cross_reference: SNOMEDCT_US_2020_03_01:254921004
id: DOID:8411
database_cross_reference: UMLS_CUI:C0241961
database_cross_reference: NCI:C3888
has_exact_synonym: renal Angiomyolipoma
in_subset: NCIthesaurus
imported from: doid.owl

congenital fibrosarcoma
type: Class
subclass of: physical disorder
subclass of: pediatric fibrosarcoma
database_cross_reference: NCI:C4244
has_exact_synonym: Infantile fibrosarcoma
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:403996004
database_cross_reference: UMLS_CUI:C0334459
id: DOID:8418
in_subset: NCIthesaurus
imported from: doid.owl

polycythemia
type: Class
subclass of: bone marrow disease
database_cross_reference: NCI:C26863
id: DOID:8432
database_cross_reference: UMLS_CUI:C0032461
definition: A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.
database_cross_reference: MESH:D011086
has_exact_synonym: Erythrocythemia
database_cross_reference: ICD10CM:D75.1
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:127062003
in_subset: NCIthesaurus
imported from: doid.owl

intestinal obstruction
type: Class
subclass of: intestinal disease
database_cross_reference: MESH:D007415
id: DOID:8437
database_cross_reference: NCI:C9175
database_cross_reference: ICD10CM:K56.609
database_cross_reference: SNOMEDCT_US_2020_03_01:81060008
database_cross_reference: ICD9CM:560.9
database_cross_reference: UMLS_CUI:C0021843
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

afferent loop syndrome
type: Class
subclass of: postgastrectomy syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:20813000
definition: A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction.
has_exact_synonym: Afferent limb syndrome
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000343
id: DOID:8438
database_cross_reference: UMLS_CUI:C0001727
imported from: doid.owl

postgastrectomy syndrome
type: Class
subclass of: functional gastric disease
subclass of: intestinal disease
database_cross_reference: MESH:D011178
has_obo_namespace: disease_ontology
id: DOID:8439
database_cross_reference: ICD9CM:564.2
database_cross_reference: SNOMEDCT_US_2020_03_01:266527005
database_cross_reference: ICD10CM:K91.1
database_cross_reference: UMLS_CUI:C0032763
has_exact_synonym: Postgastric surgery syndrome
imported from: doid.owl

ileus
type: Class
subclass of: intestinal obstruction
has_obo_namespace: disease_ontology
has_exact_synonym: Ileus of intestine
database_cross_reference: SNOMEDCT_US_2020_03_01:278524008
database_cross_reference: UMLS_CUI:C1258215
id: DOID:8440
database_cross_reference: NCI:C37979
database_cross_reference: MESH:D045823
in_subset: NCIthesaurus
imported from: doid.owl

brachial plexus lesion
type: Class
subclass of: brachial plexus neuropathy
id: DOID:8443
definition: A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus.
has_exact_synonym: Brachial plexus lesions
database_cross_reference: ICD9CM:353.0
database_cross_reference: SNOMEDCT_US_2020_03_01:3548001
database_cross_reference: UMLS_CUI:C0006091
has_obo_namespace: disease_ontology
imported from: doid.owl

intestinal volvulus
type: Class
subclass of: intestinal obstruction
database_cross_reference: NCI:C98963
database_cross_reference: ICD9CM:560.2
database_cross_reference: UMLS_CUI:C0042961
definition: An intestinal obstruction characterized by abnormal rotation of the intestines.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K56.2
database_cross_reference: OMIM:193250
id: DOID:8445
database_cross_reference: MESH:D045822
database_cross_reference: SNOMEDCT_US_2020_03_01:9707006
has_exact_synonym: Twist of intestine, bowel, or colon
has_exact_synonym: Volvulus
has_exact_synonym: familial intestinal malrotation
has_exact_synonym: volvulus of midgut
in_subset: NCIthesaurus
imported from: doid.owl

intussusception
type: Class
subclass of: intestinal obstruction
database_cross_reference: OMIM:147710
database_cross_reference: SNOMEDCT_US_2020_03_01:155772009
database_cross_reference: UMLS_CUI:C0021933
id: DOID:8446
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007443
database_cross_reference: ICD10CM:K56.1
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:560.0
has_exact_synonym: Intussusception
has_exact_synonym: Intussusception of intestine
has_exact_synonym: Invagination of intestine or colon
database_cross_reference: NCI:C113484
in_subset: NCIthesaurus
imported from: doid.owl

cyclothymic disorder
type: Class
subclass of: bipolar disorder
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0010598
id: DOID:845
database_cross_reference: ICD9CM:301.13
definition: A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes.
has_exact_synonym: Affective personality disorder
database_cross_reference: MESH:D003527
has_exact_synonym: Cycloid personality
database_cross_reference: SNOMEDCT_US_2020_03_01:191754000
has_exact_synonym: Cyclothymia
has_exact_synonym: Cyclothymic personality
database_cross_reference: ICD10CM:F34.0
imported from: doid.owl

riboflavin deficiency
type: Class
subclass of: nutritional deficiency disease
database_cross_reference: ICD10CM:E53.0
id: DOID:8454
database_cross_reference: UMLS_CUI:C0035528
database_cross_reference: MESH:D012257
definition: A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis.
database_cross_reference: SNOMEDCT_US_2020_03_01:20307000
database_cross_reference: ICD9CM:266.0
has_obo_namespace: disease_ontology
has_exact_synonym: ariboflavinosis
has_exact_synonym: vitamin B2 deficiency
imported from: doid.owl

pellagra
type: Class
subclass of: nutritional deficiency disease
database_cross_reference: ICD9CM:265.2
database_cross_reference: MESH:D010383
id: DOID:8457
has_exact_synonym: Niacin-tryptophan deficiency
database_cross_reference: UMLS_CUI:C0030783
database_cross_reference: GARD:10014
database_cross_reference: SNOMEDCT_US_2020_03_01:267491008
has_obo_namespace: disease_ontology
definition: A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects.
has_exact_synonym: Niacin deficiency
has_exact_synonym: Pellagra
imported from: doid.owl

Aicardi syndrome
type: Class
subclass of: syndrome
database_cross_reference: MESH:D058540
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:8461
database_cross_reference: OMIM:304050
database_cross_reference: ORDO:50
database_cross_reference: GARD:5764
has_obo_namespace: disease_ontology
definition: A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.
database_cross_reference: NCI:C35256
database_cross_reference: UMLS_CUI:C0175713
database_cross_reference: SNOMEDCT_US_2020_03_01:80651009
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

corneal ulcer
type: Class
subclass of: keratitis
database_cross_reference: ICD10CM:H16.0
database_cross_reference: ICD9CM:370.0
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0010043
database_cross_reference: NCI:C50515
database_cross_reference: MESH:D003320
database_cross_reference: SNOMEDCT_US_2020_03_01:193758008
id: DOID:8463
in_subset: NCIthesaurus
imported from: doid.owl

retinoschisis
type: Class
subclass of: retinal degeneration
database_cross_reference: UMLS_CUI:C0152439
id: DOID:8465
database_cross_reference: ICD10CM:H33.10
database_cross_reference: SNOMEDCT_US_2020_03_01:389992006
database_cross_reference: ICD9CM:361.10
database_cross_reference: MESH:D041441
database_cross_reference: NCI:C85046
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

retinal degeneration
type: Class
subclass of: retinal disease
subclass of: eye degenerative disease
database_cross_reference: UMLS_CUI:C0035304
database_cross_reference: SNOMEDCT_US_2020_03_01:95695004
has_obo_namespace: disease_ontology
id: DOID:8466
definition: A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
database_cross_reference: NCI:C34979
database_cross_reference: MESH:D012162
has_exact_synonym: degeneration of retina
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

influenza
type: Class
subclass of: respiratory system disease
subclass of: viral infectious disease
database_cross_reference: ICD9CM:487
database_cross_reference: MESH:D007251
database_cross_reference: ICD10CM:J11.1
has_obo_namespace: disease_ontology
definition: A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.
has_alternative_id: DOID:8468
has_exact_synonym: Influenza with non-respiratory manifestation
has_exact_synonym: Influenza with other manifestations
database_cross_reference: NCI:C53482
id: DOID:8469
database_cross_reference: UMLS_CUI:C0021400
database_cross_reference: SNOMEDCT_US_2020_03_01:155559006
has_exact_synonym: flu
has_exact_synonym: influenza with non-respiratory manifestation
in_subset: NCIthesaurus
imported from: doid.owl

localized scleroderma
type: Class
subclass of: scleroderma
database_cross_reference: NCI:C72069
id: DOID:8472
database_cross_reference: SNOMEDCT_US_2020_03_01:90424004
database_cross_reference: GARD:7058
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D012594
database_cross_reference: UMLS_CUI:C0036420
database_cross_reference: ICD9CM:701.0
database_cross_reference: ICD10CM:L94.0
has_exact_synonym: Morphea
has_exact_synonym: Scleroderma, circumscribed or localised
has_exact_synonym: Scleroderma, circumscribed or localized
has_exact_synonym: circumscribed scleroderma
has_exact_synonym: localised morphea
has_exact_synonym: localised morphoea
has_exact_synonym: localised scleroderma
has_exact_synonym: localized morphea
in_subset: NCIthesaurus
imported from: doid.owl

Whipple disease
type: Class
subclass of: intestinal disease
database_cross_reference: NCI:C85228
id: DOID:8476
database_cross_reference: GARD:7889
database_cross_reference: ICD9CM:040.2
database_cross_reference: MESH:D008061
database_cross_reference: ICD10CM:K90.81
database_cross_reference: SNOMEDCT_US_2020_03_01:41545003
database_cross_reference: UMLS_CUI:C0023788
has_exact_synonym: Whipple's disease
has_obo_namespace: disease_ontology
has_exact_synonym: intestinal lipodystrophy
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

actinomycosis
type: Class
subclass of: commensal bacterial infectious disease
subclass of: respiratory system disease
definition: A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures.
database_cross_reference: NCI:C34350
has_exact_synonym: Actinomycotic madura foot
has_exact_synonym: Actinomycotic mycetoma of foot
database_cross_reference: MESH:D000196
database_cross_reference: ICD10CM:A42
has_alternative_id: DOID:0050000
database_cross_reference: GARD:5728
has_alternative_id: DOID:13079
has_exact_synonym: Madura foot due to Actinomadura
database_cross_reference: SNOMEDCT_US_2020_03_01:50508009
has_exact_synonym: Actinomycotic mycetema
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:039.9
id: DOID:8478
database_cross_reference: UMLS_CUI:C0001261
has_related_synonym: actinomycetoma
has_exact_synonym: actinomycotic infection
has_related_synonym: boil
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

arthritis
type: Class
subclass of: bone inflammation disease
database_cross_reference: MESH:D001168
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C2883
database_cross_reference: ICD10CM:M19.90
has_exact_synonym: Inflammatory disorder of joint
database_cross_reference: SNOMEDCT_US_2020_03_01:372091005
database_cross_reference: UMLS_CUI:C0003864
id: DOID:848
definition: A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.
in_subset: NCIthesaurus
imported from: doid.owl

rheumatic myocarditis
type: Class
subclass of: bacterial infectious disease
subclass of: myocarditis
database_cross_reference: SNOMEDCT_US_2020_03_01:195136004
has_alternative_id: DOID:14025
id: DOID:8481
database_cross_reference: UMLS_CUI:C0035440
database_cross_reference: ICD10CM:M05.3
database_cross_reference: NCI:C34985
database_cross_reference: ICD10CM:I01.9
database_cross_reference: ICD9CM:398.0
database_cross_reference: SNOMEDCT_US_2020_03_01:8805001
database_cross_reference: ICD9CM:391.9
has_alternative_id: DOID:14036
has_exact_synonym: Rheumatic degeneration of myocardium
has_exact_synonym: Rheumatic fever with myocarditis
has_exact_synonym: Rheumatic myocarditis
has_exact_synonym: Rheumatoid myocarditis
database_cross_reference: UMLS_CUI:C0489959
has_exact_synonym: active rheumatic fever with myocarditis
has_exact_synonym: acute Rheumatic Myocarditis
has_exact_synonym: acute rheumatic carditis
has_exact_synonym: acute rheumatic myocarditis
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

retinal artery occlusion
type: Class
subclass of: artery disease
subclass of: retinal vascular occlusion
database_cross_reference: UMLS_CUI:C0035302
id: DOID:8483
database_cross_reference: SNOMEDCT_US_2020_03_01:232035005
database_cross_reference: NCI:C34978
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015356
has_exact_synonym: Retinal artery occlusion
in_subset: NCIthesaurus
imported from: doid.owl

polyhydramnios
type: Class
subclass of: placenta disease
id: DOID:8488
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:657.0
definition: A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
database_cross_reference: MESH:D006831
database_cross_reference: UMLS_CUI:C0020224
database_cross_reference: NCI:C92848
database_cross_reference: ICD10CM:O40
database_cross_reference: SNOMEDCT_US_2020_03_01:157052008
in_subset: NCIthesaurus
imported from: doid.owl

hereditary night blindness
type: Class
subclass of: night blindness
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:H53.63
has_exact_synonym: Congenital night blindness
id: DOID:8498
database_cross_reference: SNOMEDCT_US_2020_03_01:193687000
database_cross_reference: ICD9CM:368.61
database_cross_reference: UMLS_CUI:C1306122
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C537743
imported from: doid.owl

night blindness
type: Class
subclass of: retinal disease
has_exact_synonym: nyctalopia
id: DOID:8499
database_cross_reference: ICD9CM:368.6
database_cross_reference: MESH:D009755
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:75390007
database_cross_reference: ICD10CM:H53.6
database_cross_reference: NCI:C34850
definition: A retinal disease that is characterized by difficulty or the inability to see in relatively low light.
database_cross_reference: UMLS_CUI:C0028077
in_subset: NCIthesaurus
imported from: doid.owl

lung disease
type: Class
subclass of: lower respiratory tract disease
database_cross_reference: SNOMEDCT_US_2020_03_01:266374002
database_cross_reference: NCI:C3198
has_alternative_id: DOID:29
has_obo_namespace: disease_ontology
has_alternative_id: DOID:766
database_cross_reference: ICD10CM:J98.4
comment: Updating out dated CUI and removing lung abscess as a synonym.
id: DOID:850
database_cross_reference: UMLS_CUI:C0024115
has_alternative_id: DOID:11894
has_alternative_id: DOID:11895
database_cross_reference: MESH:D008171
definition: A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
in_subset: NCIthesaurus
imported from: doid.owl

fundus dystrophy
type: Class
subclass of: eye disease
database_cross_reference: SNOMEDCT_US_2020_03_01:314407005
id: DOID:8501
database_cross_reference: MESH:D058499
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35625
has_exact_synonym: Retinal Dystrophy
database_cross_reference: UMLS_CUI:C0854723
in_subset: NCIthesaurus
imported from: doid.owl

bullous skin disease
type: Class
subclass of: dermatitis
subclass of: connective tissue disease
database_cross_reference: ICD9CM:694.8
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0079957
definition: An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested.
database_cross_reference: SNOMEDCT_US_2020_03_01:200916004
id: DOID:8502
imported from: doid.owl

impetigo
type: Class
subclass of: pyoderma
database_cross_reference: SNOMEDCT_US_2020_03_01:156319000
database_cross_reference: MESH:D007169
database_cross_reference: ICD9CM:684
database_cross_reference: NCI:C99088
database_cross_reference: ICD10CM:L01.0
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0021099
definition: A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous.
id: DOID:8504
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

dermatitis herpetiformis
type: Class
subclass of: autoimmune disease of skin and connective tissue
subclass of: bullous skin disease
database_cross_reference: NCI:C26742
database_cross_reference: ICD9CM:694.0
database_cross_reference: MESH:D003874
database_cross_reference: GARD:1917
database_cross_reference: UMLS_CUI:C0011608
database_cross_reference: ICD10CM:L13.0
database_cross_reference: SNOMEDCT_US_2020_03_01:200899006
id: DOID:8505
has_exact_synonym: Dermatitis herpetiformis
has_exact_synonym: Dermatosis herpetiformis
has_exact_synonym: Duhring's disease
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

bullous pemphigoid
type: Class
subclass of: autoimmune disease of skin and connective tissue
definition: An autoimmune disease of skin and connective tissue characterized by large blisters.
database_cross_reference: MESH:D010391
id: DOID:8506
database_cross_reference: ICD9CM:694.5
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L12.0
database_cross_reference: UMLS_CUI:C0030805
has_exact_synonym: Bullous pemphigoid
database_cross_reference: NCI:C84389
database_cross_reference: SNOMEDCT_US_2020_03_01:77090002
database_cross_reference: GARD:5972
in_subset: NCIthesaurus
imported from: doid.owl

subcorneal pustular dermatosis
type: Class
subclass of: bullous skin disease
database_cross_reference: SNOMEDCT_US_2020_03_01:25147002
database_cross_reference: MESH:D012872
database_cross_reference: ICD9CM:694.1
id: DOID:8508
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L13.1
has_exact_synonym: Sneddon-Wilkinson disease or syndrome
has_exact_synonym: Subcorneal pustular dermatosis
database_cross_reference: UMLS_CUI:C0600336
imported from: doid.owl

acute pulmonary heart disease
type: Class
subclass of: Cor pulmonale
database_cross_reference: UMLS_CUI:C0155671
id: DOID:8514
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:415
database_cross_reference: SNOMEDCT_US_2020_03_01:155324005
imported from: doid.owl

Cor pulmonale
type: Class
subclass of: congestive heart failure
database_cross_reference: ICD10CM:I27.81
database_cross_reference: UMLS_CUI:C0034072
database_cross_reference: MESH:D011660
definition: A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.
database_cross_reference: SNOMEDCT_US_2020_03_01:83291003
has_obo_namespace: disease_ontology
id: DOID:8515
has_exact_synonym: cardiopulmonary disease
has_exact_synonym: pulmonary heart disease
imported from: doid.owl

acute cor pulmonale
type: Class
subclass of: acute pulmonary heart disease
database_cross_reference: ICD10CM:I26.09
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155325006
database_cross_reference: ICD9CM:415.0
id: DOID:8517
database_cross_reference: UMLS_CUI:C0155672
imported from: doid.owl

monocytic leukemia
type: Class
subclass of: myeloid leukemia
database_cross_reference: UMLS_CUI:C0153903
has_alternative_id: DOID:9151
has_alternative_id: DOID:8526
has_alternative_id: DOID:8884
database_cross_reference: ICD9CM:206.8
database_cross_reference: SNOMEDCT_US_2020_03_01:188747004
has_alternative_id: DOID:8809
has_alternative_id: DOID:8935
id: DOID:8527
has_exact_synonym: Schilling's leukaemia
has_obo_namespace: disease_ontology
definition: A myeloid leukemia that is characterized by a dominance of monocytes in the marrow.
database_cross_reference: ICD10CM:C93.Z
has_exact_synonym: Schilling's leukemia
has_exact_synonym: monocytic leukaemia
imported from: doid.owl

hypopharynx cancer
type: Class
subclass of: pharynx cancer
definition: A pharynx cancer that is located_in the hypopharynx.
database_cross_reference: SNOMEDCT_US_2020_03_01:93968005
database_cross_reference: ICD9CM:148
database_cross_reference: SNOMEDCT_US_2020_03_01:93831006
database_cross_reference: UMLS_CUI:C0496770
database_cross_reference: ICD10CM:C13.2
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9334
has_alternative_id: DOID:9160
database_cross_reference: MESH:D007012
database_cross_reference: UMLS_CUI:C0153398
database_cross_reference: ICD9CM:148.3
id: DOID:8533
database_cross_reference: NCI:C7190
has_alternative_id: DOID:8532
has_alternative_id: DOID:12202
has_exact_synonym: Hypopharyngeal cancer
database_cross_reference: ICD10CM:C13
has_exact_synonym: malignant Hypopharyngeal tumor
has_exact_synonym: malignant neoplasm of hypopharynx
has_exact_synonym: malignant tumor of hypopharynx
has_exact_synonym: malignant tumour of hypopharynx
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

gastroesophageal reflux disease
type: Class
subclass of: gastrointestinal system disease
database_cross_reference: ICD10CM:K21.9
database_cross_reference: ICD9CM:530.81
has_exact_synonym: Acid reflux
has_exact_synonym: Gastresophageal reflux
has_exact_synonym: Gastro-esophageal reflux
database_cross_reference: SNOMEDCT_US_2020_03_01:235595009
has_exact_synonym: Gastroesophageal reflux disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0017168
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D005764
id: DOID:8534
has_exact_synonym: Gastroesophageal reflux
database_cross_reference: OMIM:109350
has_exact_synonym: GERD - Gastro-esophageal reflux disease
database_cross_reference: NCI:C26781
has_exact_synonym: GERD
in_subset: NCIthesaurus
imported from: doid.owl

herpes zoster
type: Class
subclass of: nervous system disease
subclass of: viral infectious disease
definition: A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:186514003
database_cross_reference: ICD9CM:053
database_cross_reference: ICD10CM:B02
has_alternative_id: DOID:9085
database_cross_reference: MESH:D006562
has_alternative_id: DOID:8772
has_alternative_id: DOID:8555
id: DOID:8536
has_alternative_id: DOID:8554
database_cross_reference: NCI:C71079
has_exact_synonym: Shingles
database_cross_reference: UMLS_CUI:C0019360
has_alternative_id: DOID:8801
has_exact_synonym: herpes zona
in_subset: NCIthesaurus
imported from: doid.owl

reticulosarcoma
type: Class
subclass of: lymphatic system cancer
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0024302
database_cross_reference: OMIM:267730
database_cross_reference: NCI:C27824
has_alternative_id: DOID:8537
database_cross_reference: MESH:D008228
has_obo_namespace: disease_ontology
id: DOID:8538
database_cross_reference: SNOMEDCT_US_2020_03_01:154579006
database_cross_reference: ICD9CM:200.0
has_exact_synonym: histiocytic lymphoma
has_exact_synonym: large-cell Lymphomas
in_subset: NCIthesaurus
imported from: doid.owl

collagen disease
type: Class
subclass of: connective tissue disease
definition: A connective tissue disease that characterized by connective tissue disease that has_material_basis in inheritable defects in collagen.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:268048008
id: DOID:854
database_cross_reference: NCI:C27204
database_cross_reference: MESH:D003095
database_cross_reference: UMLS_CUI:C0009326
has_exact_synonym: collagen disorder
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Sezary's disease
type: Class
subclass of: cutaneous T cell lymphoma
database_cross_reference: UMLS_CUI:C0036920
database_cross_reference: NCI:C3366
database_cross_reference: SNOMEDCT_US_2020_03_01:4950009
id: DOID:8541
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C84.1
database_cross_reference: ICD9CM:202.2
database_cross_reference: MESH:D012751
database_cross_reference: GARD:7629
has_alternative_id: DOID:8790
has_exact_synonym: Sezary disease
has_exact_synonym: Sezary syndrome
in_subset: NCIthesaurus
imported from: doid.owl

chronic fatigue syndrome
type: Class
subclass of: syndrome
database_cross_reference: ICD9CM:780.71
id: DOID:8544
database_cross_reference: ICD10CM:R53.82
comment: No OMIM mapping, confirmed by DO. [LS].
definition: A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:193054000
has_exact_synonym: CFS
database_cross_reference: MESH:D015673
database_cross_reference: GARD:7121
has_exact_synonym: Myalgic encephalomyelitis
database_cross_reference: UMLS_CUI:C0015674
database_cross_reference: NCI:C3037
has_exact_synonym: Myalgic encephalitis
has_exact_synonym: Postviral fatigue syndrome
in_subset: NCIthesaurus
imported from: doid.owl

malignant hyperthermia
type: Class
subclass of: autosomal dominant disease
subclass of: muscle tissue disease
database_cross_reference: MESH:D008305
database_cross_reference: NCI:C84869
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
id: DOID:8545
definition: A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.
database_cross_reference: UMLS_CUI:C0024591
database_cross_reference: ORDO:423
database_cross_reference: OMIM:PS145600
database_cross_reference: ICD10CM:T88.3
database_cross_reference: SNOMEDCT_US_2020_03_01:111738008
database_cross_reference: ICD9CM:995.86
database_cross_reference: GARD:6964
has_exact_synonym: anesthesia related hyperthermia
has_exact_synonym: malignant hyperpyrexia due to anesthesia
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

chronic ulcer of skin
type: Class
subclass of: skin disease
database_cross_reference: UMLS_CUI:C0157738
has_exact_synonym: Callous ulcer
has_alternative_id: DOID:8548
has_alternative_id: DOID:8733
database_cross_reference: ICD9CM:707
database_cross_reference: SNOMEDCT_US_2020_03_01:156423009
id: DOID:8549
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L98.4
has_exact_synonym: Indolent ulcer
imported from: doid.owl

chronic myeloid leukemia
type: Class
subclass of: myeloid leukemia
has_alternative_id: DOID:8606
database_cross_reference: EFO:0000339
database_cross_reference: SNOMEDCT_US_2020_03_01:154592009
database_cross_reference: ORDO:521
database_cross_reference: UMLS_CUI:C0023473
database_cross_reference: GARD:6105
has_alternative_id: DOID:8551
database_cross_reference: ICD9CM:205.1
definition: A myeloid leukemia that is characterized by over production of white blood cells.
has_exact_synonym: CML - chronic Myelogenous Leukemia
id: DOID:8552
has_exact_synonym: Myeloid Leukemia, chronic
database_cross_reference: NCI:C3174
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:608232
database_cross_reference: KEGG:05220
database_cross_reference: MESH:D015464
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: CML
has_exact_synonym: chronic granulocytic leukaemia
has_exact_synonym: chronic granulocytic leukemia
has_exact_synonym: chronic myelogenous leukaemia
has_exact_synonym: chronic myelogenous leukemia
has_exact_synonym: chronic myeloid leukaemia
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

pyoderma gangrenosum
type: Class
subclass of: pyoderma
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L88
database_cross_reference: UMLS_CUI:C0085652
database_cross_reference: ICD9CM:686.01
database_cross_reference: SNOMEDCT_US_2020_03_01:74578003
database_cross_reference: MESH:D017511
database_cross_reference: GARD:7510
id: DOID:8553
has_exact_synonym: Pyoderma gangrenosum
imported from: doid.owl

oropharynx cancer
type: Class
subclass of: pharynx cancer
database_cross_reference: ICD10CM:C10.8
database_cross_reference: ICD10CM:C10.3
database_cross_reference: ICD10CM:C10.2
has_alternative_id: DOID:8949
has_alternative_id: DOID:8851
database_cross_reference: SNOMEDCT_US_2020_03_01:187686007
database_cross_reference: UMLS_CUI:C0153390
has_alternative_id: DOID:9168
database_cross_reference: ICD9CM:146.6
database_cross_reference: ICD9CM:146.7
id: DOID:8557
database_cross_reference: ICD9CM:146.5
database_cross_reference: ICD10CM:C10
database_cross_reference: NCI:C7398
definition: A pharynx cancer that is located_in the oropharynx.
has_exact_synonym: Oropharyngeal carcinoma
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0153388
database_cross_reference: SNOMEDCT_US_2020_03_01:93933005
database_cross_reference: UMLS_CUI:C0153389
database_cross_reference: UMLS_CUI:C0153382
database_cross_reference: ICD9CM:146
has_alternative_id: DOID:8684
database_cross_reference: SNOMEDCT_US_2020_03_01:93971002
has_exact_synonym: malignant Oropharyngeal tumor
has_exact_synonym: malignant tumor of oropharynx
has_exact_synonym: malignant tumour of mesopharynx
has_exact_synonym: oropharyngeal cancer
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

biotinidase deficiency
type: Class
subclass of: multiple carboxylase deficiency
database_cross_reference: GARD:894
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D81.810
id: DOID:856
database_cross_reference: NCI:C84598
comment: OMIM mapping confirmed by DO. [SN].
definition: A multiple carboxylase deficiency that involves a deficiency in biotinidase.
has_exact_synonym: Juvenile-onset multiple carboxylase deficiency
has_exact_synonym: Late-onset multiple carboxylase deficiency
database_cross_reference: SNOMEDCT_US_2020_03_01:8808004
database_cross_reference: UMLS_CUI:C0220754
database_cross_reference: OMIM:253260
database_cross_reference: MESH:D028921
has_exact_synonym: BTD deficiency
has_exact_synonym: deficiency of biotinidase
in_subset: NCIthesaurus
imported from: doid.owl

lip cancer
type: Class
subclass of: oral cavity cancer
subclass of: lip disease
has_alternative_id: DOID:8605
database_cross_reference: ICD10CM:C00
database_cross_reference: SNOMEDCT_US_2020_03_01:93869001
database_cross_reference: ICD9CM:140
database_cross_reference: SNOMEDCT_US_2020_03_01:187626009
database_cross_reference: MESH:D008048
database_cross_reference: ICD9CM:140.6
database_cross_reference: ICD9CM:140.8
has_alternative_id: DOID:8975
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:93762003
has_alternative_id: DOID:9031
database_cross_reference: UMLS_CUI:C0153347
database_cross_reference: UMLS_CUI:C0153346
has_alternative_id: DOID:9135
has_alternative_id: DOID:8563
database_cross_reference: UMLS_CUI:C0153340
database_cross_reference: NCI:C7485
id: DOID:8564
has_exact_synonym: malignant neoplasm of commissure of lip
has_exact_synonym: malignant neoplasm of external Lip, not specified as upper or lower
has_exact_synonym: malignant neoplasm of labial commissure of lip
has_exact_synonym: malignant neoplasm of lip
has_exact_synonym: malignant neoplasm of lip, external
has_exact_synonym: malignant neoplasm of lip, inner aspect
has_exact_synonym: malignant neoplasm of lip, vermilion border
has_exact_synonym: malignant neoplasm of lower lip, buccal aspect
has_exact_synonym: malignant neoplasm of lower lip, inner aspect
has_exact_synonym: malignant neoplasm of lower lip, mucosa
has_exact_synonym: malignant neoplasm of lower lip, oral aspect
has_exact_synonym: malignant neoplasm of oral aspect of lip, not specified whether upper or lower
has_exact_synonym: malignant neoplasm of other sites of lip
has_exact_synonym: malignant neoplasm of vermilion border of lip
has_exact_synonym: malignant tumor of commissure of lip
has_exact_synonym: malignant tumor of labial mucosa
has_exact_synonym: malignant tumor of lip
has_exact_synonym: malignant tumor of lower labial mucosa
has_exact_synonym: malignant tumor of the Lip
has_exact_synonym: malignant tumour of labial commissure
has_exact_synonym: malignant tumour of lip
in_subset: NCIthesaurus
imported from: doid.owl

herpes simplex
type: Class
subclass of: viral infectious disease
database_cross_reference: MESH:D006561
definition: A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person.
database_cross_reference: ICD10CM:B00.9
has_alternative_id: DOID:9012
id: DOID:8566
has_alternative_id: DOID:8763
database_cross_reference: SNOMEDCT_US_2020_03_01:88594005
has_obo_namespace: disease_ontology
has_alternative_id: DOID:9239
database_cross_reference: ICD9CM:054
database_cross_reference: NCI:C155871
has_exact_synonym: Herpesvirus hominis disease
database_cross_reference: UMLS_CUI:C0019348
imported from: doid.owl

Hodgkin's lymphoma
type: Class
subclass of: lymphoma
database_cross_reference: GARD:2714
has_alternative_id: DOID:8685
has_alternative_id: DOID:8841
id: DOID:8567
database_cross_reference: ICD10CM:C81
database_cross_reference: OMIM:236000
database_cross_reference: OMIM:400021
database_cross_reference: UMLS_CUI:C0019829
database_cross_reference: OMIM:300221
database_cross_reference: EFO:0000183
database_cross_reference: ORDO:98293
has_alternative_id: DOID:0060059
database_cross_reference: MESH:D006689
has_alternative_id: DOID:8671
has_alternative_id: DOID:8652
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_alternative_id: DOID:8953
has_alternative_id: DOID:9107
definition: A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
has_alternative_id: DOID:8710
has_obo_namespace: disease_ontology
has_alternative_id: DOID:8715
has_exact_synonym: HL
has_exact_synonym: Hodgkin lymphoma
has_exact_synonym: Hodgkin's sarcoma
database_cross_reference: NCI:C9357
database_cross_reference: SNOMEDCT_US_2020_03_01:118599009
database_cross_reference: ICD9CM:201
has_alternative_id: DOID:9096
has_exact_synonym: Hodgkin disease
has_exact_synonym: Hodgkins lymphoma
has_exact_synonym: stage I Subdiaphragmatic Hodgkin Lymphoma
has_exact_synonym: stage II Subdiaphragmatic Hodgkin Lymphoma
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

infectious mononucleosis
type: Class
subclass of: viral infectious disease
database_cross_reference: ICD10CM:B27
id: DOID:8568
definition: A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.
has_exact_synonym: Gammaherpesviral mononucleosis
database_cross_reference: ICD9CM:075
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34726
database_cross_reference: UMLS_CUI:C0021345
has_exact_synonym: Filatov's disease
database_cross_reference: SNOMEDCT_US_2020_03_01:154359004
database_cross_reference: MESH:D007244
has_exact_synonym: Monocytic angina
has_exact_synonym: Pfeiffer's disease
has_exact_synonym: glandular fever
has_exact_synonym: mononucleosis
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

multiple carboxylase deficiency
type: Class
subclass of: carbohydrate metabolic disorder
subclass of: amino acid metabolic disorder
database_cross_reference: UMLS_CUI:C0026755
database_cross_reference: ICD10CM:D81.81
definition: An amino acid metabolic disorder that involves failures of carboxylation enzymes.
id: DOID:857
database_cross_reference: MESH:D009100
database_cross_reference: SNOMEDCT_US_2020_03_01:62151000119109
database_cross_reference: GARD:3824
has_obo_namespace: disease_ontology
imported from: doid.owl

lichen nitidus
type: Class
subclass of: lichen disease
id: DOID:8573
database_cross_reference: UMLS_CUI:C0162849
database_cross_reference: ICD9CM:697.1
database_cross_reference: ICD10CM:L44.1
has_exact_synonym: Pinkus' disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:41890004
database_cross_reference: MESH:D017513
imported from: doid.owl

lichen disease
type: Class
subclass of: skin disease
database_cross_reference: UMLS_CUI:C0023643
id: DOID:8574
database_cross_reference: ICD10CM:L28.0
database_cross_reference: ICD9CM:697.9
database_cross_reference: SNOMEDCT_US_2020_03_01:156376003
has_obo_namespace: disease_ontology
imported from: doid.owl

ulcerative colitis
type: Class
subclass of: autoimmune disease of gastrointestinal tract
subclass of: colitis
database_cross_reference: MESH:D003093
database_cross_reference: EFO:0000729
definition: A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
database_cross_reference: UMLS_CUI:C0009324
database_cross_reference: UMLS_CUI:C0375359
id: DOID:8577
has_alternative_id: DOID:8576
has_alternative_id: DOID:9016
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [LS].
database_cross_reference: ICD9CM:556
database_cross_reference: SNOMEDCT_US_2020_03_01:196988003
database_cross_reference: ICD10CM:K51
database_cross_reference: ICD9CM:556.5
has_exact_synonym: Left-sided ulcerative colitis
database_cross_reference: SNOMEDCT_US_2020_03_01:441971007
database_cross_reference: NCI:C2952
in_subset: NCIthesaurus
imported from: doid.owl

soft palate cancer
type: Class
subclass of: oral cavity cancer
database_cross_reference: ICD9CM:145.3
has_obo_namespace: disease_ontology
id: DOID:8578
database_cross_reference: UMLS_CUI:C0153376
database_cross_reference: SNOMEDCT_US_2020_03_01:94049001
database_cross_reference: NCI:C3529
database_cross_reference: ICD10CM:C05.1
has_exact_synonym: malignant tumor of soft palate
has_exact_synonym: malignant tumor of the soft Palate
in_subset: NCIthesaurus
imported from: doid.owl

Burkitt lymphoma
type: Class
subclass of: mature B-cell neoplasm
has_exact_synonym: Burkitt lymphoma/leukaemia
id: DOID:8584
database_cross_reference: MESH:D002051
has_obo_namespace: disease_ontology
database_cross_reference: GARD:5973
database_cross_reference: NCI:C2912
database_cross_reference: ICD9CM:200.2
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:543
database_cross_reference: UMLS_CUI:C0006413
database_cross_reference: SNOMEDCT_US_2020_03_01:118617000
definition: A mature B-cell neoplasm of B-cells found in the germinal center.
database_cross_reference: OMIM:113970
has_exact_synonym: Burkitt's Lymphoma
has_exact_synonym: Burkitt's tumor
has_exact_synonym: Burkitt's tumor or lymphoma
database_cross_reference: ICD10CM:C83.7
has_exact_synonym: malignant lymphoma, Burkitt's type
has_exact_synonym: small Non-Cleaved cell Lymphoma, Burkitt's type
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

holocarboxylase synthetase deficiency
type: Class
subclass of: multiple carboxylase deficiency
database_cross_reference: MESH:D028922
database_cross_reference: GARD:2721
database_cross_reference: SNOMEDCT_US_2020_03_01:15307001
database_cross_reference: ICD10CM:D81.818
definition: A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
has_obo_namespace: disease_ontology
has_exact_synonym: Multiple carboxylase deficiency - neonatal onset
database_cross_reference: UMLS_CUI:C0268581
database_cross_reference: OMIM:253270
id: DOID:859
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C98842
has_exact_synonym: Biotin-(propionyl-CoA-carboxylase) ligase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

chronic monocytic leukemia
type: Class
subclass of: monocytic leukemia
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34774
database_cross_reference: ICD9CM:206.1
has_alternative_id: DOID:9194
id: DOID:8593
database_cross_reference: SNOMEDCT_US_2020_03_01:46236001
database_cross_reference: MESH:D007951
database_cross_reference: UMLS_CUI:C0023466
database_cross_reference: ICD10CM:C93.1
in_subset: NCIthesaurus
imported from: doid.owl

scarlet fever
type: Class
subclass of: upper respiratory tract disease
id: DOID:8596
database_cross_reference: ICD10CM:A38
database_cross_reference: ICD9CM:034
database_cross_reference: SNOMEDCT_US_2020_03_01:154301006
database_cross_reference: UMLS_CUI:C0036285
database_cross_reference: UMLS_CUI:C0343487
database_cross_reference: ICD9CM:034.1
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D012541
database_cross_reference: SNOMEDCT_US_2020_03_01:154303009
definition: An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash.
database_cross_reference: NCI:C94575
has_alternative_id: DOID:8597
has_exact_synonym: Scarlatina
in_subset: NCIthesaurus
imported from: doid.owl

Peyronie's disease
type: Class
subclass of: penile disease
database_cross_reference: ICD10CM:N48.6
database_cross_reference: MESH:D010411
database_cross_reference: UMLS_CUI:C0030848
database_cross_reference: SNOMEDCT_US_2020_03_01:155931002
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:171000
database_cross_reference: NCI:C3316
database_cross_reference: GARD:7379
id: DOID:8616
database_cross_reference: ICD9CM:607.85
has_exact_synonym: Induratio penis plastica
has_obo_namespace: disease_ontology
has_exact_synonym: Peyronie disease
has_exact_synonym: Peyronie's Fibromatosis
in_subset: NCIthesaurus
imported from: doid.owl

oral cavity cancer
type: Class
subclass of: gastrointestinal system cancer
subclass of: mouth disease
database_cross_reference: SNOMEDCT_US_2020_03_01:93802007
database_cross_reference: ICD9CM:144.0
database_cross_reference: ICD9CM:144.1
has_alternative_id: DOID:9049
database_cross_reference: SNOMEDCT_US_2020_03_01:93672006
database_cross_reference: NCI:C9318
has_obo_namespace: disease_ontology
id: DOID:8618
has_alternative_id: DOID:8617
definition: A gastrointestinal system cancer that is located_in the oral cavity.
database_cross_reference: UMLS_CUI:C0496758
has_alternative_id: DOID:9055
database_cross_reference: ICD9CM:144
database_cross_reference: ICD10CM:C04
database_cross_reference: UMLS_CUI:C0153369
database_cross_reference: UMLS_CUI:C0153368
has_alternative_id: DOID:0050627
database_cross_reference: GARD:9360
database_cross_reference: SNOMEDCT_US_2020_03_01:93860002
database_cross_reference: ICD10CM:C04.0
database_cross_reference: ICD10CM:C04.1
has_exact_synonym: malignant neoplasm of floor of mouth
in_subset: NCIthesaurus
in_subset: TopNodes DOcancerslim
imported from: doid.owl

recurrent hypersomnia
type: Class
subclass of: sleep disorder
has_obo_namespace: disease_ontology
id: DOID:8619
database_cross_reference: UMLS_CUI:C0751226
database_cross_reference: ICD9CM:327.13
database_cross_reference: ICD10CM:G47.13
database_cross_reference: MESH:D006970
database_cross_reference: SNOMEDCT_US_2020_03_01:426451004
definition: A sleep disorder that involves recurring bouts of excessive amounts of sleepiness.
has_exact_synonym: primary recurrent hypersomnia
imported from: doid.owl

measles
type: Class
subclass of: viral infectious disease
database_cross_reference: NCI:C96406
definition: A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.
database_cross_reference: SNOMEDCT_US_2020_03_01:154338006
database_cross_reference: GARD:3434
database_cross_reference: ICD9CM:055
has_alternative_id: DOID:9112
database_cross_reference: ICD10CM:B05
database_cross_reference: MESH:D008457
has_alternative_id: DOID:8621
has_alternative_id: DOID:8963
database_cross_reference: UMLS_CUI:C0025007
id: DOID:8622
has_obo_namespace: disease_ontology
has_exact_synonym: morbilli
in_subset: NCIthesaurus
imported from: doid.owl

nervous system disease
type: Class
subclass of: disease of anatomical entity
definition: A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
database_cross_reference: SNOMEDCT_US_2020_03_01:155262005
database_cross_reference: UMLS_CUI:C0027765
database_cross_reference: NCI:C26835
database_cross_reference: MESH:D009422
id: DOID:863
database_cross_reference: ICD9CM:349.9
database_cross_reference: ICD10CM:G98
has_obo_namespace: disease_ontology
in_subset: DO GXD slim
in_subset: DO MGI slim
in_subset: NCIthesaurus
imported from: doid.owl

Kaposi's sarcoma
type: Class
subclass of: connective tissue cancer
subclass of: viral infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:109385007
database_cross_reference: NCI:C3551
database_cross_reference: NCI:C3550
database_cross_reference: UMLS_CUI:C1335509
has_exact_synonym: Corneal Kaposi's sarcoma
database_cross_reference: SNOMEDCT_US_2020_03_01:188029000
has_alternative_id: DOID:7239
database_cross_reference: GARD:6814
database_cross_reference: NCI:C7006
database_cross_reference: UMLS_CUI:C1333453
database_cross_reference: MESH:D012514
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:176.0
database_cross_reference: ICD9CM:176.3
database_cross_reference: ICD9CM:176.4
database_cross_reference: ICD9CM:176.1
database_cross_reference: ICD9CM:176.2
database_cross_reference: ICD9CM:176.5
database_cross_reference: ICD10CM:C46.3
database_cross_reference: ICD10CM:C46.2
database_cross_reference: ICD10CM:C46.5
database_cross_reference: ICD10CM:C46.4
database_cross_reference: ICD10CM:C46.1
database_cross_reference: ICD10CM:C46.0
database_cross_reference: UMLS_CUI:C0346935
database_cross_reference: UMLS_CUI:C0346936
database_cross_reference: SNOMEDCT_US_2020_03_01:109390005
database_cross_reference: NCI:C5602
database_cross_reference: NCI:C5842
database_cross_reference: NCI:C6377
database_cross_reference: SNOMEDCT_US_2020_03_01:188775002
has_alternative_id: DOID:6480
database_cross_reference: NCI:C9087
has_alternative_id: DOID:8631
has_obo_namespace: disease_ontology
has_alternative_id: DOID:12764
database_cross_reference: ICD9CM:176
has_alternative_id: DOID:12766
database_cross_reference: NCI:C6749
database_cross_reference: UMLS_CUI:C1334457
has_alternative_id: DOID:12762
has_alternative_id: DOID:12761
definition: A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8).
has_exact_synonym: Conjunctival Kaposi's sarcoma
has_exact_synonym: Cutaneous Kaposi's sarcoma
database_cross_reference: SNOMEDCT_US_2020_03_01:188144002
id: DOID:8632
has_exact_synonym: Kaposi's sarcoma of penis
database_cross_reference: NCI:C4579
database_cross_reference: UMLS_CUI:C1333776
database_cross_reference: NCI:C4578
database_cross_reference: NCI:C5706
database_cross_reference: UMLS_CUI:C0153565
database_cross_reference: UMLS_CUI:C0153564
database_cross_reference: UMLS_CUI:C0153563
database_cross_reference: UMLS_CUI:C0153562
database_cross_reference: SNOMEDCT_US_2020_03_01:255114007
database_cross_reference: UMLS_CUI:C1332847
database_cross_reference: NCI:C27500
has_related_synonym: African lymphadenopathic Kaposi's sarcoma
database_cross_reference: UMLS_CUI:C0153561
database_cross_reference: UMLS_CUI:C0153560
database_cross_reference: UMLS_CUI:C1333744
database_cross_reference: UMLS_CUI:C0036220
database_cross_reference: UMLS_CUI:C1334318
has_alternative_id: DOID:12778
database_cross_reference: SNOMEDCT_US_2020_03_01:109388009
database_cross_reference: NCI:C5523
database_cross_reference: UMLS_CUI:C1335372
has_alternative_id: DOID:12775
database_cross_reference: SNOMEDCT_US_2020_03_01:255115008
has_alternative_id: DOID:12774
has_alternative_id: DOID:12777
has_alternative_id: DOID:12776
database_cross_reference: ICD10CM:C46
has_alternative_id: DOID:12771

chronic intestinal vascular insufficiency
type: Class
subclass of: intestinal disease
database_cross_reference: UMLS_CUI:C0311262
database_cross_reference: ICD9CM:557.1
database_cross_reference: SNOMEDCT_US_2020_03_01:266448009
id: DOID:8633
has_exact_synonym: chronic mesenteric ischemia
has_obo_namespace: disease_ontology
has_exact_synonym: CMI - chronic mesenteric ischaemia
imported from: doid.owl

prostate carcinoma in situ
type: Class
subclass of: prostate disease
subclass of: in situ carcinoma
database_cross_reference: UMLS_CUI:C0154088
database_cross_reference: SNOMEDCT_US_2020_03_01:92691004
definition: An in situ carcinoma that is located_in the prostate.
id: DOID:8634
database_cross_reference: ICD9CM:233.4
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D07.5
has_exact_synonym: PIN III
has_exact_synonym: carcinoma in situ of prostate
has_exact_synonym: grade III PIN
in_subset: NCIthesaurus
imported from: doid.owl

duodenitis
type: Class
subclass of: intestinal disease
has_alternative_id: DOID:8897
has_alternative_id: DOID:8983
database_cross_reference: ICD10CM:K29.8
has_exact_synonym: Hemorrhagic duodenitis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0013298
database_cross_reference: SNOMEDCT_US_2020_03_01:155715004
database_cross_reference: ICD9CM:535.6
database_cross_reference: MESH:D004382
database_cross_reference: NCI:C94409
id: DOID:8643
in_subset: NCIthesaurus
imported from: doid.owl

gastroduodenitis
type: Class
subclass of: peptic ulcer disease
has_alternative_id: DOID:8759
has_alternative_id: DOID:8777
has_alternative_id: DOID:8776
has_alternative_id: DOID:9223
has_alternative_id: DOID:8572
has_alternative_id: DOID:8571
database_cross_reference: ICD9CM:535.4
database_cross_reference: UMLS_CUI:C0029800
database_cross_reference: SNOMEDCT_US_2020_03_01:196737009
id: DOID:8644
has_obo_namespace: disease_ontology
imported from: doid.owl

substance-induced psychosis
type: Class
subclass of: psychotic disorder
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:293.89
id: DOID:8646
database_cross_reference: UMLS_CUI:C0154334
imported from: doid.owl

tongue cancer
type: Class
subclass of: tongue disease
subclass of: oral cavity cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:363377003
has_alternative_id: DOID:8779
database_cross_reference: ICD10CM:C02.4
has_alternative_id: DOID:9068
database_cross_reference: ICD10CM:C02.9
database_cross_reference: ICD9CM:141.5
has_alternative_id: DOID:9196
database_cross_reference: ICD9CM:141.6
database_cross_reference: ICD10CM:C02.2
database_cross_reference: ICD10CM:C02.0
database_cross_reference: ICD10CM:C02.1
database_cross_reference: UMLS_CUI:C0153356
database_cross_reference: SNOMEDCT_US_2020_03_01:94101009
database_cross_reference: UMLS_CUI:C0153350
has_alternative_id: DOID:8900
database_cross_reference: UMLS_CUI:C0153351
has_alternative_id: DOID:8940
database_cross_reference: SNOMEDCT_US_2020_03_01:363376007
database_cross_reference: GARD:7779
database_cross_reference: ICD10CM:C01
database_cross_reference: SNOMEDCT_US_2020_03_01:94100005
database_cross_reference: UMLS_CUI:C0153349
database_cross_reference: UMLS_CUI:C0496755
database_cross_reference: SNOMEDCT_US_2020_03_01:187644001
has_alternative_id: DOID:8999
database_cross_reference: SNOMEDCT_US_2020_03_01:94134006
database_cross_reference: ICD9CM:141
database_cross_reference: UMLS_CUI:C0684333
database_cross_reference: SNOMEDCT_US_2020_03_01:93773005
has_alternative_id: DOID:8648
database_cross_reference: ICD9CM:141.0
database_cross_reference: ICD9CM:141.3
database_cross_reference: ICD9CM:141.1
has_alternative_id: DOID:9058
database_cross_reference: ICD9CM:141.2
database_cross_reference: NCI:C9345
database_cross_reference: MESH:D014062
id: DOID:8649
database_cross_reference: NCI:C3524
database_cross_reference: UMLS_CUI:C0474963
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of tongue
in_subset: NCIthesaurus
imported from: doid.owl

vasculitis
type: Class
subclass of: vascular disease
definition: A vascular disease that is characterized by inflammation of the blood vessels.
has_exact_synonym: Angiitis
id: DOID:865
database_cross_reference: SNOMEDCT_US_2020_03_01:195375002
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9565
database_cross_reference: UMLS_CUI:C0042384
database_cross_reference: NCI:C26912
database_cross_reference: MESH:D014657
in_subset: NCIthesaurus
imported from: doid.owl

chickenpox
type: Class
subclass of: viral infectious disease
id: DOID:8659
has_obo_namespace: disease_ontology
has_alternative_id: DOID:8658
database_cross_reference: NCI:C97132
has_alternative_id: DOID:8693
has_alternative_id: DOID:9243
database_cross_reference: ICD10CM:B01.9
database_cross_reference: ICD9CM:052
database_cross_reference: UMLS_CUI:C0008049
definition: A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.
database_cross_reference: SNOMEDCT_US_2020_03_01:186508005
database_cross_reference: MESH:D002644
has_exact_synonym: varicella
in_subset: NCIthesaurus
imported from: doid.owl

vein disease
type: Class
subclass of: vascular disease
database_cross_reference: UMLS_CUI:C0155774
database_cross_reference: ICD9CM:453
definition: A vascular disease that is located_in a vein.
database_cross_reference: ICD10CM:I82
has_obo_namespace: disease_ontology
id: DOID:866
database_cross_reference: SNOMEDCT_US_2020_03_01:195435006
imported from: doid.owl

eating disorder
type: Class
subclass of: specific developmental disorder
id: DOID:8670
database_cross_reference: UMLS_CUI:C0013473
database_cross_reference: MESH:D001068
database_cross_reference: NCI:C89332
database_cross_reference: ICD10CM:F50
database_cross_reference: ICD9CM:307.50
definition: A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:72366004
in_subset: NCIthesaurus
imported from: doid.owl

viral exanthem
type: Class
subclass of: exanthem
subclass of: viral infectious disease
has_alternative_id: DOID:8744
has_obo_namespace: disease_ontology
has_alternative_id: DOID:8730
has_alternative_id: DOID:9213
database_cross_reference: SNOMEDCT_US_2020_03_01:186577001
database_cross_reference: ICD9CM:057.8
database_cross_reference: UMLS_CUI:C0029841
id: DOID:8672
imported from: doid.owl

perinatal necrotizing enterocolitis
type: Class
subclass of: gastrointestinal system disease
database_cross_reference: UMLS_CUI:C0520459
id: DOID:8677
has_exact_synonym: ENTEROCOLITIS NECROTIZING
database_cross_reference: MESH:D020345
database_cross_reference: ICD10CM:K55.3
has_exact_synonym: Necrotizing enterocolitis in fetus OR newborn
has_exact_synonym: Perinatal necrotising enterocolitis
has_exact_synonym: Perinatal necrotizing enterocolitis
has_exact_synonym: Pseudomembranous enterocolitis in newborn
has_obo_namespace: disease_ontology
has_exact_synonym: necrotizing enterocolitis
imported from: doid.owl

myeloid sarcoma
type: Class
subclass of: hematologic cancer
database_cross_reference: SNOMEDCT_US_2020_03_01:35287006
has_obo_namespace: disease_ontology
id: DOID:8683
has_alternative_id: DOID:8682
database_cross_reference: GARD:12763
has_exact_synonym: Granulocytic sarcoma
database_cross_reference: NCI:C35815
has_exact_synonym: Chloroma
database_cross_reference: ICD10CM:C92.3
database_cross_reference: UMLS_CUI:C0152276
has_alternative_id: DOID:8848
has_exact_synonym: Extramedullary Myeloid tumor
database_cross_reference: MESH:D023981
in_subset: NCIthesaurus
imported from: doid.owl

skin carcinoma in situ
type: Class
subclass of: skin disease
subclass of: in situ carcinoma
database_cross_reference: ICD10CM:D04
database_cross_reference: ICD10CM:D04.7
has_alternative_id: DOID:8989
has_alternative_id: DOID:8831
database_cross_reference: SNOMEDCT_US_2020_03_01:189276007
has_alternative_id: DOID:9000
database_cross_reference: SNOMEDCT_US_2020_03_01:189295000
database_cross_reference: ICD9CM:232
database_cross_reference: SNOMEDCT_US_2020_03_01:92747005
id: DOID:8687
database_cross_reference: NCI:C3640
has_alternative_id: DOID:8686
has_alternative_id: DOID:8880
database_cross_reference: SNOMEDCT_US_2020_03_01:255144005
database_cross_reference: UMLS_CUI:C0154080
database_cross_reference: UMLS_CUI:C0154081
database_cross_reference: ICD9CM:232.2
database_cross_reference: SNOMEDCT_US_2020_03_01:92749008
database_cross_reference: ICD9CM:232.3
database_cross_reference: ICD9CM:232.0
database_cross_reference: ICD9CM:232.6
database_cross_reference: ICD9CM:232.7
database_cross_reference: ICD9CM:232.4
database_cross_reference: SNOMEDCT_US_2020_03_01:190179004
database_cross_reference: ICD9CM:232.5
database_cross_reference: UMLS_CUI:C0154079
has_exact_synonym: Cutaneous carcinoma in situ
database_cross_reference: UMLS_CUI:C0154073
database_cross_reference: UMLS_CUI:C0154074
database_cross_reference: UMLS_CUI:C0347139
database_cross_reference: UMLS_CUI:C0154077
database_cross_reference: UMLS_CUI:C0154078
database_cross_reference: SNOMEDCT_US_2020_03_01:189291009
has_alternative_id: DOID:8699
has_alternative_id: DOID:9221
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:92735004
has_alternative_id: DOID:9185
database_cross_reference: ICD10CM:D04.0
database_cross_reference: ICD10CM:D04.2
database_cross_reference: ICD10CM:D04.4
definition: A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues.
database_cross_reference: ICD10CM:D04.3
database_cross_reference: ICD10CM:D04.6
has_alternative_id: DOID:8817
has_related_synonym: carcinoma in situ of skin
in_subset: NCIthesaurus
imported from: doid.owl

cholesteatoma
type: Class
subclass of: keratosis
database_cross_reference: MESH:D002781
database_cross_reference: ICD10CM:H71.9
database_cross_reference: ICD9CM:385.30
database_cross_reference: NCI:C2944
has_obo_namespace: disease_ontology
database_cross_reference: GARD:10422
database_cross_reference: UMLS_CUI:C0008373
definition: A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.
id: DOID:869
database_cross_reference: SNOMEDCT_US_2020_03_01:155244001
in_subset: NCIthesaurus
imported from: doid.owl

mycosis fungoides
type: Class
subclass of: cutaneous T cell lymphoma
database_cross_reference: SNOMEDCT_US_2020_03_01:118618005
has_alternative_id: DOID:8737
database_cross_reference: ICD10CM:C84.0
database_cross_reference: UMLS_CUI:C0026948
database_cross_reference: NCI:C3246
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:8691
database_cross_reference: GARD:3863
database_cross_reference: OMIM:254400
database_cross_reference: ICD9CM:202.1
database_cross_reference: MESH:D009182
has_exact_synonym: Mycosis fungoides
has_exact_synonym: mycosis fungoides lymphoma
in_subset: NCIthesaurus
imported from: doid.owl

myeloid leukemia
type: Class
subclass of: leukemia
database_cross_reference: SNOMEDCT_US_2020_03_01:269631008
database_cross_reference: ICD9CM:205
database_cross_reference: ICD10CM:C92
database_cross_reference: GARD:8226
database_cross_reference: NCI:C3172
definition: A leukemia that is located_in myeloid tissue.
has_obo_namespace: disease_ontology
has_alternative_id: DOID:8910
has_alternative_id: DOID:8879
has_alternative_id: DOID:8878
has_alternative_id: DOID:9066
database_cross_reference: MESH:D007951
database_cross_reference: UMLS_CUI:C0023470
has_alternative_id: DOID:9126
id: DOID:8692
has_exact_synonym: Non-Lymphocytic Leukemia
has_exact_synonym: leukaemia myelogenous
has_exact_synonym: leukemia myelogenous
has_exact_synonym: myeloid granulocytic leukaemia
has_exact_synonym: myeloid granulocytic leukemia
has_exact_synonym: myeloid leukaemia
in_subset: NCIthesaurus
imported from: doid.owl

neuropathy
type: Class
subclass of: peripheral nervous system disease
id: DOID:870
database_cross_reference: SNOMEDCT_US_2020_03_01:42658009
database_cross_reference: ICD10CM:G62.9
database_cross_reference: UMLS_CUI:C0442874
database_cross_reference: NCI:C4731
has_obo_namespace: disease_ontology
definition: A nervous system disease that is located_in nerves or nerve cells.
has_exact_synonym: peripheral neuropathy
in_subset: NCIthesaurus
imported from: doid.owl

genital herpes
type: Class
subclass of: herpes simplex
database_cross_reference: UMLS_CUI:C0019342
definition: A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands.
database_cross_reference: MESH:D006558
id: DOID:8704
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C14364
database_cross_reference: ICD9CM:054.1
database_cross_reference: SNOMEDCT_US_2020_03_01:154333002
has_alternative_id: DOID:8982
has_exact_synonym: Genital herpes simplex
has_exact_synonym: Herpes Genitalis
has_exact_synonym: Virus-Genital Herpes
has_exact_synonym: venereal herpes
in_subset: NCIthesaurus
in_subset: sexually transmitted infectious disease
imported from: doid.owl

neurofibromatosis
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: UMLS_CUI:C0162678
has_alternative_id: DOID:14750
has_alternative_id: DOID:9137
database_cross_reference: GARD:10420
database_cross_reference: ICD9CM:237.7
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q85.00
database_cross_reference: MESH:D017253
has_obo_namespace: disease_ontology
id: DOID:8712
database_cross_reference: NCI:C6727
has_alternative_id: DOID:8711
has_exact_synonym: Acoustic neurofibromatosis
database_cross_reference: ORDO:93921
has_exact_synonym: Recklinghausen's neurofibromatosis
database_cross_reference: SNOMEDCT_US_2020_03_01:154642000
has_exact_synonym: central Neurofibromatosis
has_exact_synonym: peripheral Neurofibromatosis
has_exact_synonym: von Reklinghausen disease
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

decubitus ulcer
type: Class
subclass of: chronic ulcer of skin
id: DOID:8717
database_cross_reference: ICD10CM:L89
database_cross_reference: UMLS_CUI:C0011127
has_alternative_id: DOID:9129
definition: Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.
database_cross_reference: SNOMEDCT_US_2020_03_01:28103007
has_alternative_id: DOID:9029
has_alternative_id: DOID:9002
has_exact_synonym: Decubitus (pressure) ulcer
has_exact_synonym: Decubitus ulcer any site
database_cross_reference: ICD9CM:707.0
database_cross_reference: NCI:C50706
database_cross_reference: MESH:D003668
has_alternative_id: DOID:8808
has_related_synonym: bedsore
has_obo_namespace: disease_ontology
has_exact_synonym: pressure sores
has_exact_synonym: pressure ulcer
in_subset: NCIthesaurus
imported from: doid.owl

in situ carcinoma
type: Class
subclass of: pre-malignant neoplasm
definition: A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.
database_cross_reference: SNOMEDCT_US_2020_03_01:109355002
database_cross_reference: MESH:D002278
id: DOID:8719
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:230-234.99
has_alternative_id: DOID:8821
has_alternative_id: DOID:8793
database_cross_reference: UMLS_CUI:C0007099
database_cross_reference: ICD10CM:D09.9
database_cross_reference: NCI:C2917
in_subset: NCIthesaurus
imported from: doid.owl

vascular dementia
type: Class
subclass of: dementia
has_alternative_id: DOID:13915
database_cross_reference: NCI:C34525
database_cross_reference: NCI:C34522
database_cross_reference: ICD9CM:290.4
id: DOID:8725
database_cross_reference: SNOMEDCT_US_2020_03_01:192165000
database_cross_reference: MESH:D015161
database_cross_reference: MESH:D015140
definition: A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0011263
database_cross_reference: ICD10CM:F01
has_exact_synonym: Multi Infarct Dementia
database_cross_reference: SNOMEDCT_US_2020_03_01:56267009
database_cross_reference: UMLS_CUI:C0011269
has_exact_synonym: multifocal dementia
in_subset: NCIthesaurus
imported from: doid.owl

smallpox
type: Class
subclass of: skin disease
subclass of: viral infectious disease
database_cross_reference: MESH:D012899
database_cross_reference: ICD9CM:050
database_cross_reference: GARD:7444
database_cross_reference: NCI:C35027
database_cross_reference: SNOMEDCT_US_2020_03_01:266193008
has_obo_namespace: disease_ontology
id: DOID:8736
database_cross_reference: ICD10CM:B03
has_exact_synonym: Ordinary smallpox
database_cross_reference: UMLS_CUI:C0037354
definition: A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk.
in_subset: NCIthesaurus
imported from: doid.owl

bacterial pneumonia
type: Class
subclass of: bacterial infectious disease
subclass of: pneumonia
database_cross_reference: ICD9CM:482.9
database_cross_reference: SNOMEDCT_US_2020_03_01:53084003
has_alternative_id: DOID:13815
database_cross_reference: NCI:C26704
database_cross_reference: ICD10CM:J15.9
definition: A pneumonia involving inflammation of the lungs caused by bacteria.
database_cross_reference: UMLS_CUI:C0004626
id: DOID:874
database_cross_reference: MESH:D018410
has_exact_synonym: Pneumonia due to other gram-negative bacteria
has_obo_namespace: disease_ontology
has_exact_synonym: gram-negative pneumonia
in_subset: GOLD
in_subset: NCIthesaurus
imported from: doid.owl

seborrheic dermatitis
type: Class
subclass of: dermatitis
definition: A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.
database_cross_reference: UMLS_CUI:C0036508
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L21
database_cross_reference: SNOMEDCT_US_2020_03_01:156328004
has_alternative_id: DOID:8740
id: DOID:8741
database_cross_reference: MESH:D012628
database_cross_reference: ICD9CM:690.1
database_cross_reference: NCI:C111888
has_exact_synonym: SKIN SEBORRHEIC
has_exact_synonym: Seborrhoeic dermatitis
has_exact_synonym: Seborrhoeic eczema
has_exact_synonym: seborrhea
in_subset: NCIthesaurus
imported from: doid.owl

erythema infectiosum
type: Class
subclass of: viral exanthem
database_cross_reference: NCI:C84695
database_cross_reference: ICD10CM:B08.3
has_exact_synonym: Erythema infectiosum
database_cross_reference: SNOMEDCT_US_2020_03_01:34730008
database_cross_reference: ICD9CM:057.0
has_exact_synonym: Fifth disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0085273
id: DOID:8743
database_cross_reference: MESH:D016731
in_subset: NCIthesaurus
imported from: doid.owl

acute megakaryocytic leukemia
type: Class
subclass of: acute myeloid leukemia
database_cross_reference: SNOMEDCT_US_2020_03_01:52220008
database_cross_reference: ICD10CM:C94.2
definition: An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:207.2
database_cross_reference: GARD:524
database_cross_reference: MESH:D007947
id: DOID:8761
has_exact_synonym: Megakaryocytic myelosis
database_cross_reference: NCI:C3170
has_exact_synonym: Thrombocytic leukaemia
database_cross_reference: UMLS_CUI:C0023462
has_alternative_id: DOID:9009
in_subset: NCIthesaurus
imported from: doid.owl

contagious pustular dermatitis
type: Class
subclass of: skin disease
subclass of: viral infectious disease
database_cross_reference: ICD9CM:051.2
database_cross_reference: UMLS_CUI:C0013570
has_obo_namespace: disease_ontology
definition: A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis.
database_cross_reference: MESH:D004474
database_cross_reference: SNOMEDCT_US_2020_03_01:74050005
id: DOID:8771
database_cross_reference: ICD10CM:B08.02
has_exact_synonym: Ecthyma contagiosum
has_exact_synonym: Ecthyma, Contagious
has_exact_synonym: Orf
has_exact_synonym: scabby mouth
has_exact_synonym: sheep pox
has_exact_synonym: thistle disease
in_subset: zoonotic infectious disease
imported from: doid.owl

Crohn's disease
type: Class
subclass of: inflammatory bowel disease
has_alternative_id: DOID:8942
database_cross_reference: MESH:D003424
database_cross_reference: NCI:C37262
has_exact_synonym: Crohn disease
has_exact_synonym: Crohn's disease of colon
has_alternative_id: DOID:8784
database_cross_reference: UMLS_CUI:C0156147
database_cross_reference: ICD10CM:K50.1
database_cross_reference: EFO:0000384
has_alternative_id: DOID:8855
id: DOID:8778
has_exact_synonym: Crohn's disease of large bowel
database_cross_reference: GARD:10232
has_exact_synonym: Granulomatous Colitis
database_cross_reference: SNOMEDCT_US_2020_03_01:7620006
comment: MESH:C536215 added from NeuroDevNet [WAK].
definition: An intestinal disease that involves inflammation located_in intestine.
database_cross_reference: ICD9CM:555.1
has_exact_synonym: Pediatric Crohn's disease
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

rubella
type: Class
subclass of: viral infectious disease
has_alternative_id: DOID:8816
has_obo_namespace: disease_ontology
has_alternative_id: DOID:9106
database_cross_reference: MESH:D012409
database_cross_reference: NCI:C85051
database_cross_reference: SNOMEDCT_US_2020_03_01:266192003
has_alternative_id: DOID:1464
has_alternative_id: DOID:1463
has_alternative_id: DOID:9162
database_cross_reference: ICD10CM:B06.9
has_alternative_id: DOID:11765
database_cross_reference: GARD:4742
database_cross_reference: ICD9CM:056
has_alternative_id: DOID:8909
has_alternative_id: DOID:9116
has_alternative_id: DOID:8780
has_alternative_id: DOID:9179
id: DOID:8781
definition: A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis.
database_cross_reference: UMLS_CUI:C0035920
has_exact_synonym: german measles
in_subset: NCIthesaurus
imported from: doid.owl

breast carcinoma in situ
type: Class
subclass of: breast disease
subclass of: in situ carcinoma
database_cross_reference: ICD10CM:D05
database_cross_reference: MESH:D000071960
id: DOID:8791
definition: An in situ carcinoma that is located_in the breast.
database_cross_reference: UMLS_CUI:C0154084
database_cross_reference: SNOMEDCT_US_2020_03_01:154636004
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:233.0
has_exact_synonym: Non-Infiltrating carcinoma of breast
has_exact_synonym: carcinoma in situ of breast
imported from: doid.owl

lung carcinoma in situ
type: Class
subclass of: in situ carcinoma
database_cross_reference: SNOMEDCT_US_2020_03_01:189262006
id: DOID:8800
database_cross_reference: ICD10CM:D02.2
definition: An in situ carcinoma that is located_in the lung.
database_cross_reference: ICD9CM:231.2
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154071
imported from: doid.owl

intermediate coronary syndrome
type: Class
subclass of: coronary artery disease
database_cross_reference: UMLS_CUI:C0002965
database_cross_reference: NCI:C66911
database_cross_reference: MESH:D000789
database_cross_reference: ICD9CM:411.1
has_obo_namespace: disease_ontology
id: DOID:8805
has_exact_synonym: Angina at rest
has_exact_synonym: Anginal chest pain at rest
database_cross_reference: SNOMEDCT_US_2020_03_01:155308009
database_cross_reference: ICD10CM:I20.0
has_exact_synonym: Impending infarction
has_exact_synonym: Preinfarction angina
has_exact_synonym: Unstable angina
has_exact_synonym: Worsening angina
in_subset: NCIthesaurus
imported from: doid.owl

colon carcinoma in situ
type: Class
subclass of: colonic disease
subclass of: intestine carcinoma in situ
database_cross_reference: ICD10CM:D01.0
database_cross_reference: UMLS_CUI:C0154061
database_cross_reference: SNOMEDCT_US_2020_03_01:92568009
database_cross_reference: ICD9CM:230.3
definition: An intestine carcinoma in situ that is located_in the colon.
has_obo_namespace: disease_ontology
id: DOID:8826
has_exact_synonym: carcinoma in situ of colon
has_exact_synonym: stage 0 Colonic carcinoma
imported from: doid.owl

parasitic helminthiasis infectious disease
type: Class
subclass of: parasitic infectious disease
has_obo_namespace: disease_ontology
has_alternative_id: DOID:10693
database_cross_reference: NCI:C84751
definition: A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.
has_alternative_id: DOID:932
id: DOID:883
has_alternative_id: DOID:458
database_cross_reference: UMLS_CUI:C0018889
database_cross_reference: ICD9CM:120-129.99
database_cross_reference: SNOMEDCT_US_2020_03_01:187518006
database_cross_reference: ICD10CM:B83.9
has_alternative_id: DOID:3563
database_cross_reference: MESH:D006373
has_exact_synonym: helminth infection
has_exact_synonym: helminthiasis
has_exact_synonym: helminthosis
has_exact_synonym: worm infection
in_subset: NCIthesaurus
imported from: doid.owl

Hodgkin's lymphoma, nodular sclerosis
type: Class
subclass of: Hodgkin's lymphoma
database_cross_reference: SNOMEDCT_US_2020_03_01:52248008
database_cross_reference: UMLS_CUI:C0152268
database_cross_reference: ICD9CM:201.5
database_cross_reference: NCI:C3518
id: DOID:8838
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:C81.1
has_exact_synonym: Classical Hodgkin lymphoma, nodular sclerosis
in_subset: NCIthesaurus
imported from: doid.owl

metagonimiasis
type: Class
subclass of: intestinal disease
subclass of: parasitic helminthiasis infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:37832003
database_cross_reference: MESH:D014201
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected.
database_cross_reference: UMLS_CUI:C0025530
id: DOID:884
database_cross_reference: NCI:C128390
database_cross_reference: ICD9CM:121.5
database_cross_reference: ICD10CM:B66.8
has_exact_synonym: Infection by Metagonimus yokogawai
in_subset: NCIthesaurus
imported from: doid.owl

fascioliasis
type: Class
subclass of: bile duct disease
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:187125007
database_cross_reference: ICD10CM:B66.3
database_cross_reference: MESH:D005211
database_cross_reference: ICD9CM:121.3
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.
database_cross_reference: GARD:6428
id: DOID:885
has_exact_synonym: Fasciola hepatica infection
has_exact_synonym: Infection by Fasciola
has_exact_synonym: Liver flukes
has_exact_synonym: Sheep liver fluke infection
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C128387
database_cross_reference: UMLS_CUI:C0015652
in_subset: NCIthesaurus
imported from: doid.owl

salivary gland cancer
type: Class
subclass of: salivary gland disease
subclass of: oral cavity cancer
database_cross_reference: UMLS_CUI:C0153362
definition: An oral cavity cancer that is located_in the salivary gland.
database_cross_reference: ICD10CM:C08
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:187648003
id: DOID:8850
database_cross_reference: ICD9CM:142.8
has_alternative_id: DOID:8873
has_alternative_id: DOID:9148
has_exact_synonym: malignant neoplasm of salivary gland
in_subset: TopNodes DOcancerslim
imported from: doid.owl

lupus erythematosus
type: Class
subclass of: autoimmune disease of musculoskeletal system
database_cross_reference: NCI:C27153
definition: An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs.
database_cross_reference: UMLS_CUI:C0409974
database_cross_reference: ICD9CM:695.4
database_cross_reference: SNOMEDCT_US_2020_03_01:200936003
id: DOID:8857
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L93
has_exact_synonym: lupus
in_subset: NCIthesaurus
imported from: doid.owl

acute monocytic leukemia
type: Class
subclass of: monocytic leukemia
definition: A monocytic leukemia where the majority of monocytic cells are promonocytes.
id: DOID:8864
database_cross_reference: MESH:D007948
has_obo_namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:151380
has_alternative_id: DOID:9208
database_cross_reference: UMLS_CUI:C0023465
database_cross_reference: ICD9CM:206.0
database_cross_reference: SNOMEDCT_US_2020_03_01:91859000
database_cross_reference: GARD:525
has_exact_synonym: acute Monoblastic Leukemia and acute Monocytic Leukemia
has_exact_synonym: acute monocytic leukaemia
has_exact_synonym: acute monocytic leukaemia without mention of remission
has_exact_synonym: acute monocytic leukemia without mention of remission
has_exact_synonym: acute monocytic leukemia, FAB M5
has_exact_synonym: acute monocytic leukemia, morphology
imported from: doid.owl

actinic keratosis
type: Class
subclass of: pre-malignant neoplasm
database_cross_reference: SNOMEDCT_US_2020_03_01:267858008
database_cross_reference: UMLS_CUI:C0022602
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:702.0
database_cross_reference: NCI:C3148
id: DOID:8866
database_cross_reference: ICD10CM:L57.0
database_cross_reference: MESH:D055623
has_exact_synonym: SK - Solar keratosis
has_exact_synonym: Senile hyperkeratosis
has_exact_synonym: Solar keratosis
has_exact_synonym: actinic (Solar) Keratosis
in_subset: NCIthesaurus
imported from: doid.owl

molluscum contagiosum
type: Class
subclass of: viral infectious disease
database_cross_reference: UMLS_CUI:C0026393
database_cross_reference: NCI:C155872
database_cross_reference: SNOMEDCT_US_2020_03_01:154360009
has_obo_namespace: disease_ontology
definition: A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.
database_cross_reference: MESH:D008976
database_cross_reference: ICD9CM:078.0
id: DOID:8867
database_cross_reference: ICD10CM:B08.1
in_subset: sexually transmitted infectious disease
imported from: doid.owl

neuromyelitis optica
type: Class
subclass of: autoimmune disease of central nervous system
subclass of: autoimmune disease of peripheral nervous system
subclass of: optic nerve disease
subclass of: spinal cord disease
id: DOID:8869
has_exact_synonym: Devic's disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:G36.0
database_cross_reference: SNOMEDCT_US_2020_03_01:25044007
has_exact_synonym: Devic's syndrome
database_cross_reference: ICD9CM:341.0
database_cross_reference: MESH:D009471
database_cross_reference: GARD:6267
database_cross_reference: UMLS_CUI:C0027873
definition: A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).
database_cross_reference: EFO:0004256
database_cross_reference: NCI:C84934
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

fasciolopsiasis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: SNOMEDCT_US_2020_03_01:54266002
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C128388
database_cross_reference: MESH:D014201
id: DOID:888
database_cross_reference: UMLS_CUI:C0015656
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction.
database_cross_reference: ICD10CM:B66.5
database_cross_reference: ICD9CM:121.4
has_exact_synonym: Infection by Fasciolopsis buski
has_exact_synonym: Infectious Disease by Fasciolopsis
in_subset: NCIthesaurus
imported from: doid.owl

rosacea
type: Class
subclass of: skin disease
id: DOID:8881
database_cross_reference: UMLS_CUI:C0035854
database_cross_reference: NCI:C97136
has_exact_synonym: Acne roscea
has_exact_synonym: Acne, erythematosa
database_cross_reference: ICD9CM:695.3
database_cross_reference: MESH:D012393
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L71
database_cross_reference: SNOMEDCT_US_2020_03_01:1612004
in_subset: NCIthesaurus
imported from: doid.owl

chorioretinitis
type: Class
subclass of: eye disease
database_cross_reference: MESH:D002825
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:270531006
id: DOID:8886
database_cross_reference: ICD9CM:363.20
database_cross_reference: ICD10CM:H30.9
database_cross_reference: NCI:C110923
database_cross_reference: GARD:6060
database_cross_reference: UMLS_CUI:C0008513
has_exact_synonym: retinochoroiditis
in_subset: NCIthesaurus
imported from: doid.owl

psoriasis
type: Class
subclass of: autoimmune disease of skin and connective tissue
database_cross_reference: ICD10CM:L40
database_cross_reference: NCI:C3346
database_cross_reference: OMIM:PS177900
database_cross_reference: EFO:0000676
id: DOID:8893
definition: A skin disease that is characterized by patches of thick red skin and silvery scales.
has_obo_namespace: disease_ontology
comment: Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860.
database_cross_reference: SNOMEDCT_US_2020_03_01:156369008
database_cross_reference: UMLS_CUI:C0033860
database_cross_reference: MESH:D011565
database_cross_reference: GARD:10262
in_subset: NCIthesaurus
imported from: doid.owl

mitochondrial encephalomyopathy
type: Class
subclass of: mitochondrial myopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:447292006
id: DOID:890
database_cross_reference: UMLS_CUI:C0162666
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D017237
in_subset: DO FlyBase slim
imported from: doid.owl

progressive myoclonus epilepsy
type: Class
subclass of: variable age at onset electroclinical syndrome
definition: A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.
database_cross_reference: OMIM:310370
database_cross_reference: OMIM:PS254800
database_cross_reference: SNOMEDCT_US_2020_03_01:192844008
database_cross_reference: MESH:D020191
database_cross_reference: GARD:7140
comment: OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS].
id: DOID:891
database_cross_reference: NCI:C7636
has_exact_synonym: PME
database_cross_reference: UMLS_CUI:C0751778
has_obo_namespace: disease_ontology
has_exact_synonym: progressive Myoclonus epilepsy
has_exact_synonym: progressive myoclonic epilepsy
in_subset: NCIthesaurus
imported from: doid.owl

tinea nigra
type: Class
subclass of: superficial mycosis
database_cross_reference: SNOMEDCT_US_2020_03_01:1022006
definition: A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.
id: DOID:8912
database_cross_reference: UMLS_CUI:C0152067
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:B36.1
database_cross_reference: ICD9CM:111.1
has_exact_synonym: Infection by Cladosporium werneckii
has_exact_synonym: Keratomycosis nigricans
has_exact_synonym: Tinea palmaris nigra
has_related_synonym: microsporosis nigra
imported from: doid.owl

dermatophytosis
type: Class
subclass of: cutaneous mycosis
database_cross_reference: ICD9CM:110
definition: A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source.
database_cross_reference: UMLS_CUI:C0011636
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26745
database_cross_reference: ICD10CM:B35
database_cross_reference: SNOMEDCT_US_2020_03_01:154394006
id: DOID:8913
in_subset: NCIthesaurus
imported from: doid.owl

skin melanoma
type: Class
subclass of: melanoma
subclass of: skin cancer
database_cross_reference: MESH:C562393
id: DOID:8923
has_alternative_id: DOID:10051
has_alternative_id: DOID:10055
database_cross_reference: UMLS_CUI:C0151779
has_alternative_id: DOID:10052
has_alternative_id: DOID:0050609
has_alternative_id: DOID:8922
database_cross_reference: ICD9CM:172.9
has_alternative_id: DOID:10046
database_cross_reference: ICD10CM:C43.9
database_cross_reference: OMIM:612263
database_cross_reference: OMIM:608035
database_cross_reference: NCI:C3510
has_obo_namespace: disease_ontology
has_alternative_id: DOID:10043
database_cross_reference: SNOMEDCT_US_2020_03_01:269577007
definition: A skin cancer that has_material_basis_in melanocytes.
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
has_exact_synonym: cutaneous melanoma
has_exact_synonym: malignant ear melanoma
has_exact_synonym: malignant lip melanoma
has_exact_synonym: malignant lower limb melanoma
has_exact_synonym: malignant melanoma of ear and/or external auricular canal
has_exact_synonym: malignant melanoma of skin of lower limb
has_exact_synonym: malignant melanoma of skin of trunk except scrotum
has_exact_synonym: malignant melanoma of skin of upper limb
has_exact_synonym: malignant neck melanoma
has_exact_synonym: malignant scalp melanoma
has_exact_synonym: malignant trunk melanoma
has_exact_synonym: malignant upper limb melanoma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

autoimmune thrombocytopenic purpura
type: Class
subclass of: primary thrombocytopenia
database_cross_reference: SNOMEDCT_US_2020_03_01:234490009
has_alternative_id: DOID:0050124
definition: A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.
database_cross_reference: ICD10CM:D69.3
database_cross_reference: UMLS_CUI:C0398650
database_cross_reference: ICD9CM:287.31
has_related_synonym: Idiopathic purpura
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D016553
database_cross_reference: OMIM:188030
has_alternative_id: DOID:2220
has_obo_namespace: disease_ontology
has_exact_synonym: Autoimmune thrombocytopenic purpura
database_cross_reference: NCI:C3446
id: DOID:8924
has_related_synonym: Ideopath thrombocytopenic pur
has_exact_synonym: Immune thrombocytopenic purpura
has_exact_synonym: idiopathic thrombocytopenic purpura
has_exact_synonym: primary thrombocytopenic purpura
has_related_synonym: werlhof's disease
in_subset: NCIthesaurus
imported from: doid.owl

primary thrombocytopenia
type: Class
subclass of: autoimmune disease of blood
database_cross_reference: ICD9CM:287.39
id: DOID:8925
database_cross_reference: ICD10CM:D69.4
database_cross_reference: SNOMEDCT_US_2020_03_01:191435001
has_alternative_id: DOID:8945
database_cross_reference: UMLS_CUI:C0477317
has_obo_namespace: disease_ontology
imported from: doid.owl

learning disability
type: Class
subclass of: specific developmental disorder
database_cross_reference: UMLS_CUI:C0751265
definition: A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information.
database_cross_reference: MESH:D007859
database_cross_reference: SNOMEDCT_US_2020_03_01:192531005
database_cross_reference: ICD10CM:F81.9
database_cross_reference: SNOMEDCT_US_2020_03_01:1855002
has_alternative_id: DOID:2847
id: DOID:8927
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C89334
has_exact_synonym: Academic skill disorder
database_cross_reference: UMLS_CUI:C0023186
has_exact_synonym: learning disorder
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

atrophic gastritis
type: Class
subclass of: gastritis
has_alternative_id: DOID:9083
has_alternative_id: DOID:9048
database_cross_reference: SNOMEDCT_US_2020_03_01:155713006
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C7405
database_cross_reference: ICD10CM:K29.4
database_cross_reference: UMLS_CUI:C0017154
id: DOID:8929
database_cross_reference: MESH:D005757
database_cross_reference: ICD9CM:535.1
has_exact_synonym: gastric atrophy
in_subset: NCIthesaurus
imported from: doid.owl

Wilson disease
type: Class
subclass of: liver disease
subclass of: metal metabolism disorder
database_cross_reference: GARD:7893
has_exact_synonym: Cerebral pseudosclerosis
database_cross_reference: SNOMEDCT_US_2020_03_01:88518009
id: DOID:893
database_cross_reference: UMLS_CUI:C0019202
database_cross_reference: ICD10CM:E83.01
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D006527
database_cross_reference: NCI:C84756
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:277900
has_exact_synonym: Westphal pseudosclerosis
has_exact_synonym: Westphal-Strumpell syndrome
has_exact_synonym: Wilson's disease
has_exact_synonym: hepatolenticular degeneration
in_subset: NCIthesaurus
imported from: doid.owl

lattice corneal dystrophy
type: Class
subclass of: autosomal dominant disease
subclass of: epithelial-stromal TGFBI dystrophy
database_cross_reference: MESH:C537935
has_obo_namespace: disease_ontology
id: DOID:8943
database_cross_reference: OMIM:122200
definition: An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface.
has_exact_synonym: familial amyloid neuropathy, Finnish type
imported from: doid.owl

severe nonproliferative diabetic retinopathy
type: Class
subclass of: diabetic retinopathy
database_cross_reference: ICD9CM:362.06
database_cross_reference: UMLS_CUI:C0730278
has_obo_namespace: disease_ontology
id: DOID:8946
has_exact_synonym: High risk non proliferative diabetic retinopathy
database_cross_reference: SNOMEDCT_US_2020_03_01:312905005
has_exact_synonym: Severe NPDR
imported from: doid.owl

diabetic retinopathy
type: Class
subclass of: retinal vascular disease
database_cross_reference: MESH:D003930
database_cross_reference: NCI:C34538
database_cross_reference: ICD9CM:362.0
id: DOID:8947
has_exact_synonym: Retinal abnormality - diabetes-related
database_cross_reference: SNOMEDCT_US_2020_03_01:154678005
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0011884
in_subset: NCIthesaurus
imported from: doid.owl

sideroblastic anemia
type: Class
subclass of: aplastic anemia
database_cross_reference: MESH:D000756
database_cross_reference: OMIM:PS300751
id: DOID:8955
definition: An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
has_exact_synonym: ANEMIA SIDEROBLASTIC
database_cross_reference: SNOMEDCT_US_2020_03_01:154810008
database_cross_reference: ICD9CM:285.0
has_obo_namespace: disease_ontology
has_exact_synonym: Anemia, hypochromic with iron loading
database_cross_reference: NCI:C36078
database_cross_reference: UMLS_CUI:C0002896
database_cross_reference: ICD10CM:D64.3
database_cross_reference: GARD:667
in_subset: NCIthesaurus
imported from: doid.owl

cowpox
type: Class
subclass of: viral infectious disease
definition: A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face.
id: DOID:8956
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0010232
database_cross_reference: ICD9CM:051.01
database_cross_reference: SNOMEDCT_US_2020_03_01:154344005
database_cross_reference: ICD10CM:B08.010
database_cross_reference: MESH:D015605
has_exact_synonym: yaba
in_subset: zoonotic infectious disease
imported from: doid.owl

metal metabolism disorder
type: Class
subclass of: inherited metabolic disorder
database_cross_reference: MESH:D008664
definition: An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
id: DOID:896
database_cross_reference: UMLS_CUI:C0025534
has_obo_namespace: disease_ontology
has_exact_synonym: inborn metal metabolism disorder
imported from: doid.owl

subacute sclerosing panencephalitis
type: Class
subclass of: viral infectious disease
database_cross_reference: NCI:C85171
database_cross_reference: ICD9CM:046.2
database_cross_reference: MESH:D013344
database_cross_reference: GARD:7708
database_cross_reference: UMLS_CUI:C0038522
database_cross_reference: OMIM:260470
id: DOID:8970
database_cross_reference: ICD10CM:A81.1
database_cross_reference: SNOMEDCT_US_2020_03_01:84196008
definition: A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant.
has_exact_synonym: Immunosuppressive measles encephalitis
has_exact_synonym: Subacute Sclerosing Panencephalitis
has_exact_synonym: Subacute sclerosing panencephalitis
has_exact_synonym: Van Bogaert's sclerosing leukoencephalitis
has_obo_namespace: disease_ontology
has_exact_synonym: subacute sclerosing leukoencephalopathy
in_subset: NCIthesaurus
imported from: doid.owl

autosomal dominant polycystic kidney disease
type: Class
subclass of: autosomal dominant disease
subclass of: polycystic kidney disease
database_cross_reference: MESH:D007690
id: DOID:898
database_cross_reference: ICD10CM:Q61.3
database_cross_reference: ORDO:730
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C75464
database_cross_reference: SNOMEDCT_US_2020_03_01:204955006
database_cross_reference: GARD:7419
definition: A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.
has_exact_synonym: Congenital biliary ectasias
database_cross_reference: UMLS_CUI:C0022680
database_cross_reference: ICD9CM:753.12
has_exact_synonym: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease.
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

cervix uteri carcinoma in situ
type: Class
subclass of: cervix disease
subclass of: uterus carcinoma in situ
database_cross_reference: ICD9CM:233.1
database_cross_reference: ICD10CM:D06
has_obo_namespace: disease_ontology
definition: An uterus carcinoma in situ that is located_in the uterine cervix.
has_exact_synonym: CIN III - carcinoma in situ of cervix
has_exact_synonym: CIN III - severe dyskaryosis
database_cross_reference: UMLS_CUI:C0851140
id: DOID:8991
has_exact_synonym: CIN III
has_exact_synonym: Cervix Ca in situ
database_cross_reference: SNOMEDCT_US_2020_03_01:92564006
database_cross_reference: MESH:D018290
has_exact_synonym: Severe Dysplasia of the Cervix Uteri
has_exact_synonym: Severe dysplasia of cervix
has_exact_synonym: carcinoma in situ of cervix
has_exact_synonym: carcinoma in situ of uterine cervix
has_exact_synonym: carcinoma of cervix stage 0
has_exact_synonym: cervical intraepithelial neoplasia grade III with severe dysplasia
has_exact_synonym: squamous intraepithelial neoplasia, grade III
in_subset: NCIthesaurus
imported from: doid.owl

polycythemia vera
type: Class
subclass of: myeloproliferative neoplasm
database_cross_reference: ICD9CM:207.1
definition: A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.
has_exact_synonym: chronic erythremia
database_cross_reference: UMLS_CUI:C0152272
id: DOID:8997
database_cross_reference: MESH:D011087
database_cross_reference: SNOMEDCT_US_2020_03_01:188753004
database_cross_reference: NCI:C3336
database_cross_reference: GARD:7422
has_alternative_id: DOID:11868
database_cross_reference: ICD9CM:238.4
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:263300
has_exact_synonym: Proliferative polycythaemia
database_cross_reference: UMLS_CUI:C0032463
database_cross_reference: SNOMEDCT_US_2020_03_01:154644004
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D45
has_exact_synonym: Osler-Vaquez syndrome
has_exact_synonym: Polycythaemia rubra vera
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

degenerative disc disease
type: Class
subclass of: bone deterioration disease
id: DOID:90
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:156633005
database_cross_reference: EFO:0004994
database_cross_reference: NCI:C27156
definition: A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
database_cross_reference: UMLS_CUI:C0410606
has_alternative_id: DOID:7943
has_exact_synonym: cervical disc degenerative disease
has_exact_synonym: intervertebral disc degeneration
has_exact_synonym: lumbar disc degeneration
has_exact_synonym: vertebral disc disease
in_subset: NCIthesaurus
imported from: doid.owl

hepatopulmonary syndrome
type: Class
subclass of: liver disease
database_cross_reference: MESH:D020065
database_cross_reference: ICD9CM:573.5
id: DOID:900
database_cross_reference: SNOMEDCT_US_2020_03_01:371067004
has_exact_synonym: Hepatopulmonary syndrome
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0600452
database_cross_reference: ICD10CM:K76.81
imported from: doid.owl

sudden infant death syndrome
type: Class
subclass of: syndrome
database_cross_reference: GARD:7711
definition: A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.
database_cross_reference: NCI:C85173
has_exact_synonym: Cot death
database_cross_reference: ICD9CM:798.0
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:51178009
database_cross_reference: MESH:D013398
database_cross_reference: UMLS_CUI:C0038644
id: DOID:9007
database_cross_reference: OMIM:272120
has_exact_synonym: Crib death
has_exact_synonym: SIDS
has_exact_synonym: Sudden death of nonspecific cause in infancy
has_exact_synonym: Sudden infant death syndrome
in_subset: NCIthesaurus
imported from: doid.owl

psoriatic arthritis
type: Class
subclass of: autoimmune disease of skin and connective tissue
subclass of: arthritis
database_cross_reference: NCI:C61277
database_cross_reference: ICD9CM:696.0
database_cross_reference: SNOMEDCT_US_2020_03_01:33339001
database_cross_reference: MESH:D015535
database_cross_reference: ICD10CM:L40.5
has_obo_namespace: disease_ontology
definition: An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.
database_cross_reference: EFO:0003778
database_cross_reference: UMLS_CUI:C0003872
id: DOID:9008
has_exact_synonym: arthritis psoriatica
has_exact_synonym: arthropathic psoriasis
has_related_synonym: psoriatic arthropathy
in_subset: NCIthesaurus
imported from: doid.owl

intestine carcinoma in situ
type: Class
subclass of: intestinal disease
subclass of: in situ carcinoma
database_cross_reference: UMLS_CUI:C0154065
database_cross_reference: SNOMEDCT_US_2020_03_01:190172008
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:D01.4
definition: An in situ carcinoma that is located_in the intestine.
database_cross_reference: ICD9CM:230.7
id: DOID:9024
imported from: doid.owl

gastrointestinal lymphoma
type: Class
subclass of: lymphoma
subclass of: gastrointestinal system cancer
id: DOID:903
database_cross_reference: SNOMEDCT_US_2020_03_01:449072004
database_cross_reference: NCI:C38162
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0740372
in_subset: NCIthesaurus
imported from: doid.owl

parotid gland cancer
type: Class
subclass of: parotid disease
subclass of: salivary gland cancer
database_cross_reference: ICD9CM:142.0
database_cross_reference: ICD10CM:C07
database_cross_reference: NCI:C3525
database_cross_reference: SNOMEDCT_US_2020_03_01:93949007
has_obo_namespace: disease_ontology
definition: A salivary gland cancer that is located_in the parotid gland.
database_cross_reference: UMLS_CUI:C0747273
id: DOID:9036
database_cross_reference: MESH:D010307
has_exact_synonym: cancer of parotid gland
has_exact_synonym: malignant neoplasm of the Parotid
has_exact_synonym: malignant tumor of parotid gland
has_exact_synonym: parotid cancer
in_subset: NCIthesaurus
imported from: doid.owl

Zellweger syndrome
type: Class
subclass of: peroxisomal biogenesis disorder
database_cross_reference: ORDO:912
id: DOID:905
database_cross_reference: NCI:C85239
definition: A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
database_cross_reference: UMLS_CUI:C0043459
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E71.510
database_cross_reference: MESH:D015211
database_cross_reference: SNOMEDCT_US_2020_03_01:88469006
database_cross_reference: GARD:7917
comment: OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: cerebrohepatorenal syndrome
has_exact_synonym: congenital iron overload
has_exact_synonym: peroxisome biogenesis disorder
in_subset: DO FlyBase slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

bladder carcinoma in situ
type: Class
subclass of: bladder disease
subclass of: in situ carcinoma
database_cross_reference: ICD10CM:D09.0
id: DOID:9053
database_cross_reference: ICD9CM:233.7
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0154091
database_cross_reference: SNOMEDCT_US_2020_03_01:92546004
definition: An in situ carcinoma that is located_in the bladder.
has_exact_synonym: Flat CIS of the urinary bladder
has_exact_synonym: bladder Ca in situ
has_exact_synonym: carcinoma in situ of bladder
in_subset: NCIthesaurus
imported from: doid.owl

peroxisomal disease
type: Class
subclass of: inherited metabolic disorder
database_cross_reference: ICD9CM:277.86
definition: An inherited metabolic disorder that involves peroxisome malfunction.
id: DOID:906
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C85005
database_cross_reference: ICD10CM:E71.5
database_cross_reference: UMLS_CUI:C0282528
database_cross_reference: MESH:D018901
database_cross_reference: SNOMEDCT_US_2020_03_01:238059005
has_exact_synonym: peroxisomal disorder
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

pityriasis versicolor
type: Class
subclass of: superficial mycosis
definition: A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales.
database_cross_reference: ICD9CM:111.0
id: DOID:9060
has_exact_synonym: Infection by Pityrosporum furfur
database_cross_reference: MESH:D014010
has_exact_synonym: Pityriasis versicolor
database_cross_reference: UMLS_CUI:C0040262
database_cross_reference: SNOMEDCT_US_2020_03_01:56454009
database_cross_reference: NCI:C112833
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:B36.0
in_subset: NCIthesaurus
imported from: doid.owl

Ritter's disease
type: Class
subclass of: commensal bacterial infectious disease
subclass of: skin disease
database_cross_reference: ICD9CM:695.81
has_obo_namespace: disease_ontology
definition: A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability.
database_cross_reference: NCI:C85077
database_cross_reference: SNOMEDCT_US_2020_03_01:87758007
database_cross_reference: UMLS_CUI:C0038165
database_cross_reference: ICD10CM:L00
database_cross_reference: MESH:D013206
id: DOID:9063
has_exact_synonym: Dermatitis exfoliativa neonatorum
has_exact_synonym: Pemphigus neonatorum
has_exact_synonym: Ritter disease
has_exact_synonym: Scalded skin syndrome
has_exact_synonym: Staphylococcal scalded skin syndrome
has_exact_synonym: Toxic epidermal necrolysis, subcorneal type
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

leishmaniasis
type: Class
subclass of: parasitic protozoa infectious disease
id: DOID:9065
database_cross_reference: ICD10CM:B55
database_cross_reference: GARD:6881
database_cross_reference: ICD9CM:085
database_cross_reference: MESH:D007896
database_cross_reference: NCI:C34767
has_alternative_id: DOID:9136
database_cross_reference: UMLS_CUI:C0023281
definition: A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).
has_related_synonym: Post Kala-Azar Dermal Leishmaniasis
database_cross_reference: SNOMEDCT_US_2020_03_01:266206004
has_obo_namespace: disease_ontology
has_related_synonym: Post-kala-azar dermal leishmaniasis
has_related_synonym: post-kala-azar dermal infectious disease by leishmaniasis
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

lethal midline granuloma
type: Class
subclass of: nose disease
database_cross_reference: MESH:D006103
database_cross_reference: UMLS_CUI:C0018197
id: DOID:9072
database_cross_reference: NCI:C8196
database_cross_reference: SNOMEDCT_US_2020_03_01:58961005
database_cross_reference: ICD9CM:446.3
has_obo_namespace: disease_ontology
database_cross_reference: GARD:9622
database_cross_reference: ICD10CM:M31.2
has_exact_synonym: Midfacial Necrotising Lesion
has_exact_synonym: malignant granuloma of face
in_subset: NCIthesaurus
imported from: doid.owl

systemic lupus erythematosus
type: Class
subclass of: connective tissue disease
subclass of: lupus erythematosus
database_cross_reference: OMIM:300809
database_cross_reference: OMIM:605480
database_cross_reference: OMIM:610066
database_cross_reference: SNOMEDCT_US_2020_03_01:156450004
database_cross_reference: OMIM:610065
database_cross_reference: OMIM:614420
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0002690
database_cross_reference: ICD10CM:M32.9
database_cross_reference: OMIM:609939
definition: A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
comment: Xref MGI.
database_cross_reference: UMLS_CUI:C0024141
database_cross_reference: MESH:D008180
database_cross_reference: OMIM:612378
database_cross_reference: OMIM:613145
database_cross_reference: OMIM:612254
database_cross_reference: OMIM:152700
database_cross_reference: ICD9CM:710.0
database_cross_reference: NCI:C3201
database_cross_reference: OMIM:609903
database_cross_reference: ORDO:536
database_cross_reference: KEGG:05322
id: DOID:9074
database_cross_reference: OMIM:608437
database_cross_reference: GARD:10253
has_exact_synonym: Lupus Erythematosus, systemic
has_exact_synonym: SLE - Lupus Erythematosus, systemic
has_exact_synonym: disseminated lupus erythematosus
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

macroglobulinemia
type: Class
subclass of: plasma protein metabolism disease
has_obo_namespace: disease_ontology
id: DOID:9080
has_exact_synonym: primary macroglobulinemia
in_subset: NCIthesaurus
imported from: doid.owl

parapsoriasis
type: Class
subclass of: psoriasis
database_cross_reference: NCI:C3312
database_cross_reference: GARD:7328
database_cross_reference: ICD9CM:696.2
id: DOID:9088
database_cross_reference: SNOMEDCT_US_2020_03_01:267851002
database_cross_reference: MESH:D010267
database_cross_reference: UMLS_CUI:C0030491
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L41
in_subset: NCIthesaurus
imported from: doid.owl

sebaceous gland disease
type: Class
subclass of: skin disease
database_cross_reference: ICD9CM:706.1
database_cross_reference: ICD10CM:L70.8
id: DOID:9098
database_cross_reference: SNOMEDCT_US_2020_03_01:201213005
definition: A skin disease that is located_in the sebaceous gland.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029485
imported from: doid.owl

uterus carcinoma in situ
type: Class
subclass of: uterine disease
subclass of: in situ carcinoma
definition: An in situ carcinoma that is located_in the uterus.
database_cross_reference: SNOMEDCT_US_2020_03_01:189342001
id: DOID:9108
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:233.2
database_cross_reference: UMLS_CUI:C0154086
imported from: doid.owl

cutaneous leishmaniasis
type: Class
subclass of: skin disease
subclass of: leishmaniasis
id: DOID:9111
has_exact_synonym: Asian Desert Cutaneous Leishmaniasis
database_cross_reference: ICD10CM:B55.1
has_alternative_id: DOID:9122
has_alternative_id: DOID:9167
has_alternative_id: DOID:9110
database_cross_reference: NCI:C34768
definition: A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
has_alternative_id: DOID:13553
has_exact_synonym: Leproid leishmaniasis
database_cross_reference: MESH:D016773
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0023283
database_cross_reference: SNOMEDCT_US_2020_03_01:240637006
has_exact_synonym: diffuse cutaneous leishmaniasis
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

granuloma inguinale
type: Class
subclass of: primary bacterial infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:186947000
id: DOID:9113
database_cross_reference: ICD9CM:099.2
database_cross_reference: NCI:C3065
definition: A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.
has_exact_synonym: Granuloma Inguinale
has_exact_synonym: Granuloma inguinale
database_cross_reference: UMLS_CUI:C0018190
database_cross_reference: MESH:D006100
database_cross_reference: GARD:9532
database_cross_reference: ICD10CM:A58
has_exact_synonym: Pudendal ulcer
has_exact_synonym: donovanosis
has_exact_synonym: pudendal ulcer
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

acute myeloid leukemia
type: Class
subclass of: myeloid leukemia
database_cross_reference: UMLS_CUI:C0023467
database_cross_reference: ICD9CM:205.0
has_alternative_id: DOID:9171
database_cross_reference: KEGG:05221
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015470
database_cross_reference: OMIM:601626
id: DOID:9119
database_cross_reference: ICD10CM:C92.0
comment: OMIM mapping confirmed by DO. [SN].
definition: A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
has_alternative_id: DOID:9118
database_cross_reference: GARD:12757
database_cross_reference: SNOMEDCT_US_2020_03_01:91861009
has_exact_synonym: AML - acute Myeloid Leukemia
database_cross_reference: NCI:C3171
has_exact_synonym: Leukemia, Myelocytic, acute
has_exact_synonym: acute myeloblastic leukaemia
has_exact_synonym: acute myeloblastic leukemia
has_exact_synonym: acute myelogenous leukaemia
has_exact_synonym: acute myelogenous leukemia
has_exact_synonym: acute myeloid leukaemia
in_subset: DO FlyBase slim
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

amyloidosis
type: Class
subclass of: acquired metabolic disease
database_cross_reference: NCI:C2868
database_cross_reference: SNOMEDCT_US_2020_03_01:154769007
definition: An acquired metabolic disease that has_material_basis_in extracellular tissue deposition of mis-folded proteins called fibrils composed of low molecular weight subunits of a variety of proteins. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.
database_cross_reference: ICD9CM:277.3
database_cross_reference: ICD10CM:E85
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0002726
database_cross_reference: MESH:D000686
id: DOID:9120
has_exact_synonym: amyloid disease
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

eczema herpeticum
type: Class
subclass of: skin disease
subclass of: herpes simplex
database_cross_reference: SNOMEDCT_US_2020_03_01:52464003
definition: A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes.
database_cross_reference: ICD10CM:B00.0
database_cross_reference: SNOMEDCT_US_2020_03_01:186544000
database_cross_reference: ICD9CM:054.0
has_obo_namespace: disease_ontology
has_alternative_id: DOID:9081
has_alternative_id: DOID:4408
has_exact_synonym: Herpes simplex dermatitis of eyelid
has_exact_synonym: Herpes simplex virus dermatitis
database_cross_reference: ICD9CM:054.41
database_cross_reference: MESH:D007617
id: DOID:9123
has_exact_synonym: Eczema herpeticum
has_exact_synonym: Herpes simplex eyelid dermatitis
database_cross_reference: UMLS_CUI:C0153037
database_cross_reference: UMLS_CUI:C0936250
database_cross_reference: UMLS_CUI:C0854331
database_cross_reference: NCI:C35620
has_exact_synonym: herpes simplex dermatitis
has_exact_synonym: herpes simplex virus eyelid dermatitis
in_subset: NCIthesaurus
imported from: doid.owl

stomach carcinoma in situ
type: Class
subclass of: stomach disease
subclass of: in situ carcinoma
id: DOID:9138
database_cross_reference: SNOMEDCT_US_2020_03_01:92756002
definition: An in situ carcinoma that is located_in the stomach.
database_cross_reference: UMLS_CUI:C0154060
database_cross_reference: ICD9CM:230.2
database_cross_reference: ICD10CM:D00.2
has_exact_synonym: carcinoma in situ of stomach
has_obo_namespace: disease_ontology
has_exact_synonym: gastric carcinoma in situ
imported from: doid.owl

peliosis hepatis
type: Class
subclass of: hepatic vascular disease
database_cross_reference: ICD10CM:K76.4
database_cross_reference: UMLS_CUI:C0030781
database_cross_reference: MESH:D010382
id: DOID:914
database_cross_reference: SNOMEDCT_US_2020_03_01:197366003
has_obo_namespace: disease_ontology
has_exact_synonym: hepatic peliosis
imported from: doid.owl

visceral leishmaniasis
type: Class
subclass of: bone disease
subclass of: splenic disease
subclass of: liver disease
subclass of: leishmaniasis
has_obo_namespace: disease_ontology
id: DOID:9146
has_exact_synonym: Infection by visceral leishmaniasis
database_cross_reference: MESH:D007898
database_cross_reference: UMLS_CUI:C0023290
database_cross_reference: OMIM:611381
database_cross_reference: OMIM:611382
database_cross_reference: NCI:C34771
comment: Xref MGI.
database_cross_reference: ICD9CM:085.0
database_cross_reference: SNOMEDCT_US_2020_03_01:48115004
database_cross_reference: ICD10CM:B55.0
database_cross_reference: ORDO:507
database_cross_reference: OMIM:608207
definition: A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.
has_exact_synonym: Kala-Azar
in_subset: DO rare slim
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

hard palate cancer
type: Class
subclass of: oral cavity cancer
database_cross_reference: ICD9CM:145.2
database_cross_reference: SNOMEDCT_US_2020_03_01:93822006
id: DOID:9149
database_cross_reference: ICD10CM:C05.0
database_cross_reference: NCI:C3528
database_cross_reference: UMLS_CUI:C0153375
has_obo_namespace: disease_ontology
has_exact_synonym: malignant neoplasm of hard palate
has_exact_synonym: malignant tumor of hard palate
has_exact_synonym: malignant tumour of hard palate
in_subset: NCIthesaurus
imported from: doid.owl

mucocutaneous leishmaniasis
type: Class
subclass of: leishmaniasis
subclass of: upper respiratory tract disease
database_cross_reference: ICD10CM:B55.2
database_cross_reference: UMLS_CUI:C1328252
database_cross_reference: MESH:D007897
id: DOID:9155
definition: A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.
has_obo_namespace: disease_ontology
has_exact_synonym: American Cutaneous Leishmaniasis
has_exact_synonym: American cutaneous leishmaniasis
has_exact_synonym: American mucocutaneous leishmaniasis
has_exact_synonym: Cutaneous leishmaniasis, American
database_cross_reference: ICD9CM:085.5
has_exact_synonym: Mucocutaneous leishmaniasis
database_cross_reference: SNOMEDCT_US_2020_03_01:721813000
has_exact_synonym: Mucocutaneous leishmaniasis, American
has_exact_synonym: New World cutaneous leishmaniasis
in_subset: zoonotic infectious disease
imported from: doid.owl

gas gangrene
type: Class
subclass of: commensal bacterial infectious disease
subclass of: muscular disease
database_cross_reference: SNOMEDCT_US_2020_03_01:186413007
database_cross_reference: MESH:D005738
id: DOID:9159
definition: A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis.
has_exact_synonym: Gas bacillus infection
has_exact_synonym: Gas gangrene
has_exact_synonym: Myonecrosis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0017105
database_cross_reference: ICD10CM:A48.0
database_cross_reference: ICD9CM:040.0
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

liver benign neoplasm
type: Class
subclass of: endocrine organ benign neoplasm
subclass of: hepatobiliary benign neoplasm
subclass of: liver disease
id: DOID:916
database_cross_reference: NCI:C7103
database_cross_reference: NCI:C7106
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1333419
has_alternative_id: DOID:692
database_cross_reference: UMLS_CUI:C1333976
has_exact_synonym: epithelial hepatic and intrahepatic bile duct neoplasm
in_subset: NCIthesaurus
imported from: doid.owl

achalasia
type: Class
subclass of: esophageal disease
database_cross_reference: MESH:D004931
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K22.0
database_cross_reference: NCI:C84699
database_cross_reference: ICD9CM:530.0
has_exact_synonym: Lack of reflex relaxation of lower oesophageal sphincter
database_cross_reference: SNOMEDCT_US_2020_03_01:17460002
database_cross_reference: UMLS_CUI:C0014848
definition: An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
database_cross_reference: OMIM:200400
id: DOID:9164
has_exact_synonym: achalasia of cardia
has_exact_synonym: achalasia of esophagus
has_exact_synonym: cardiospasm
has_exact_synonym: esophageal achalasia
has_exact_synonym: hypertensive lower esophageal sphincter
in_subset: NCIthesaurus
imported from: doid.owl

neurotic excoriation
type: Class
subclass of: dermatitis
has_exact_synonym: Dermatitis artefacta
has_exact_synonym: Dermatitis factitia
has_exact_synonym: Factitious skin disease
database_cross_reference: ICD9CM:698.4
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:L98.1
database_cross_reference: SNOMEDCT_US_2020_03_01:402736003
id: DOID:9165
has_exact_synonym: Dermatitis ficta
database_cross_reference: UMLS_CUI:C1274184
imported from: doid.owl

Wiskott-Aldrich syndrome
type: Class
subclass of: X-linked recessive disease
subclass of: syndrome
database_cross_reference: ICD10CM:D82.0
database_cross_reference: UMLS_CUI:C0043194
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:279.12
database_cross_reference: NCI:C3448
database_cross_reference: SNOMEDCT_US_2020_03_01:36070007
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D014923
id: DOID:9169
database_cross_reference: OMIM:301000
definition: A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).
has_exact_synonym: Wiskott syndrome
in_subset: NCIthesaurus
imported from: doid.owl

liver inflammatory pseudotumor
type: Class
subclass of: liver disease
database_cross_reference: NCI:C5858
database_cross_reference: UMLS_CUI:C1333967
database_cross_reference: SNOMEDCT_US_2020_03_01:717329009
id: DOID:918
has_exact_synonym: Inflammatory Pseudotumor of the Liver
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

amebiasis
type: Class
subclass of: parasitic protozoa infectious disease
database_cross_reference: ICD10CM:A06
database_cross_reference: GARD:652
database_cross_reference: UMLS_CUI:C0002438
database_cross_reference: MESH:D000562
has_obo_namespace: disease_ontology
definition: A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
database_cross_reference: NCI:C84551
database_cross_reference: SNOMEDCT_US_2020_03_01:387754006
id: DOID:9181
has_alternative_id: DOID:11904
has_alternative_id: DOID:11901
database_cross_reference: ICD9CM:006
has_exact_synonym: amoebiasis
has_related_synonym: chronic intestinal amebiasis
has_exact_synonym: entamoebiasis
in_subset: NCIthesaurus
imported from: doid.owl

pemphigus
type: Class
subclass of: autoimmune disease of musculoskeletal system
subclass of: bullous skin disease
database_cross_reference: ICD9CM:694.4
database_cross_reference: UMLS_CUI:C0030807
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:156355008
database_cross_reference: ICD10CM:L10
database_cross_reference: MESH:D010392
database_cross_reference: NCI:C34909
id: DOID:9182
database_cross_reference: GARD:7352
definition: A bullous skin disease that is characterized by blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).
in_subset: NCIthesaurus
imported from: doid.owl

diabetic macular edema
type: Class
subclass of: diabetic retinopathy
database_cross_reference: UMLS_CUI:C0730285
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:312912001
database_cross_reference: ICD9CM:362.07
id: DOID:9191
imported from: doid.owl

dyskinesia of esophagus
type: Class
subclass of: esophageal disease
database_cross_reference: MESH:D015154
database_cross_reference: SNOMEDCT_US_2020_03_01:40846004
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K22.4
database_cross_reference: ICD9CM:530.5
id: DOID:9192
has_exact_synonym: Dyskinesia of oesophagus
has_exact_synonym: Oesophageal dysmotility
database_cross_reference: UMLS_CUI:C0014858
has_exact_synonym: Oesophageal motor disorder
has_exact_synonym: esophageal dysmotility
has_exact_synonym: esophageal motility disorder
imported from: doid.owl

speech disorder
type: Class
subclass of: communication disorder
id: DOID:92
database_cross_reference: UMLS_CUI:C0037822
definition: A communication disorder that involves difficulty with the act of speech production.
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C5041
database_cross_reference: MESH:D013064
in_subset: NCIthesaurus
imported from: doid.owl

lichen planus
type: Class
subclass of: lichen disease
definition: A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.
database_cross_reference: GARD:12344
database_cross_reference: ICD9CM:697.0
database_cross_reference: SNOMEDCT_US_2020_03_01:156377007
database_cross_reference: MESH:D008010
database_cross_reference: ICD10CM:L43
id: DOID:9201
has_exact_synonym: Lichen, ruber planus
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3189
database_cross_reference: UMLS_CUI:C0023646
has_exact_synonym: lichen ruber planus
in_subset: NCIthesaurus
imported from: doid.owl

Barrett's esophagus
type: Class
subclass of: esophageal disease
database_cross_reference: UMLS_CUI:C0004763
database_cross_reference: MESH:D001471
database_cross_reference: EFO:0000280
has_exact_synonym: Barrett's esophagus with esophagitis
has_exact_synonym: Barrett's oesophagus
has_exact_synonym: Barrett's ulcer of esophagus
has_exact_synonym: Barretts syndrome
database_cross_reference: OMIM:614266
database_cross_reference: ICD9CM:530.85
database_cross_reference: SNOMEDCT_US_2020_03_01:302914006
has_exact_synonym: Barrett esophagus
id: DOID:9206
database_cross_reference: GARD:20
database_cross_reference: NCI:C2891
database_cross_reference: ICD10CM:K22.7
has_obo_namespace: disease_ontology
has_exact_synonym: ulcerative esophagitis
in_subset: NCIthesaurus
imported from: doid.owl

herpes zoster oticus
type: Class
subclass of: facial nerve disease
subclass of: poliomyelitis
database_cross_reference: SNOMEDCT_US_2020_03_01:21954000
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84763
database_cross_reference: UMLS_CUI:C0017409
definition: A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache.
database_cross_reference: ICD9CM:053.11
database_cross_reference: MESH:D016697
database_cross_reference: ICD10CM:B02.21
database_cross_reference: GARD:7525
id: DOID:9210
has_exact_synonym: Geniculate herpes zoster
has_exact_synonym: Herpes Zoster Oticus
has_exact_synonym: Herpes zoster auricularis
has_exact_synonym: Herpetic geniculate ganglionitis
has_exact_synonym: Ramsay Hunt syndrome type 2
has_exact_synonym: Ramsay Hunt syndrome type II
has_exact_synonym: Ramsey Hunt syndrome
has_exact_synonym: geniculate neuralgia
has_exact_synonym: nervus intermedius neuralgia
in_subset: NCIthesaurus
imported from: doid.owl

pityriasis rubra pilaris
type: Class
subclass of: skin disease
database_cross_reference: GARD:7401
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:3755001
database_cross_reference: ICD9CM:696.4
database_cross_reference: ICD10CM:L44.0
database_cross_reference: UMLS_CUI:C0032027
definition: A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma.
database_cross_reference: OMIM:173200
id: DOID:9212
has_exact_synonym: Devergie's disease
database_cross_reference: MESH:D010916
database_cross_reference: NCI:C85014
has_exact_synonym: Pityriasis rubra pilaris
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

central sleep apnea
type: Class
subclass of: sleep apnea
id: DOID:9220
database_cross_reference: MESH:D020182
database_cross_reference: NCI:C116046
database_cross_reference: OMIM:107640
definition: A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.
has_obo_namespace: disease_ontology
comment: Xref MGI.
database_cross_reference: OMIM:207720
database_cross_reference: UMLS_CUI:C0520680
has_related_synonym: central sleep apnea syndrome
has_exact_synonym: primary central sleep apnea
in_subset: NCIthesaurus
imported from: doid.owl

pompholyx
type: Class
subclass of: sweat gland disease
database_cross_reference: ICD9CM:705.81
database_cross_reference: MESH:D011146
id: DOID:9230
database_cross_reference: SNOMEDCT_US_2020_03_01:402567004
database_cross_reference: UMLS_CUI:C0032633
has_obo_namespace: disease_ontology
definition: A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin.
has_exact_synonym: Cheiropompholyx
has_exact_synonym: DYSHYDROTIC ECZEMA
has_exact_synonym: Vesicular eczema of hands and/or feet
has_exact_synonym: dyshidrosis
imported from: doid.owl

erythromelalgia
type: Class
subclass of: neuropathy
definition: A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature.
id: DOID:9240
database_cross_reference: UMLS_CUI:C0014804
database_cross_reference: OMIM:133020
database_cross_reference: SNOMEDCT_US_2020_03_01:238777005
database_cross_reference: ICD10CM:I73.81
database_cross_reference: ICD9CM:443.82
database_cross_reference: GARD:6377
database_cross_reference: MESH:D004916
database_cross_reference: NCI:C34593
has_obo_namespace: disease_ontology
has_exact_synonym: erythermalgia
in_subset: NCIthesaurus
imported from: doid.owl

Alagille syndrome
type: Class
subclass of: liver disease
database_cross_reference: GARD:804
database_cross_reference: SNOMEDCT_US_2020_03_01:31742004
database_cross_reference: NCI:C35139
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:Q44.7
database_cross_reference: OMIM:610205
database_cross_reference: MESH:D016738
id: DOID:9245
database_cross_reference: OMIM:118450
database_cross_reference: ORDO:52
definition: A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
has_exact_synonym: Arteriohepatic dysplasia
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0085280
has_exact_synonym: Alagille-Watson syndrome
in_subset: NCIthesaurus
imported from: doid.owl

cerebral amyloid angiopathy
type: Class
subclass of: amyloidosis
database_cross_reference: MESH:D028243
database_cross_reference: ORDO:85458
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:9246
definition: An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
has_exact_synonym: Cerebral Hemorrhage, Hereditary, with Amyloidosis
has_exact_synonym: Hereditary Cerebral Hemorrhage with Amyloidosis
database_cross_reference: UMLS_CUI:C1510489
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:45639009
database_cross_reference: UMLS_CUI:C1527338
database_cross_reference: UMLS_CUI:C0268393
database_cross_reference: UMLS_CUI:C1956349
in_subset: DO rare slim
imported from: doid.owl

Pallister-Hall syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C84987
database_cross_reference: GARD:7305
has_exact_synonym: A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.
database_cross_reference: OMIM:146510
database_cross_reference: SNOMEDCT_US_2020_03_01:56677004
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D054975
id: DOID:9248
database_cross_reference: UMLS_CUI:C0265220
in_subset: NCIthesaurus
imported from: doid.owl

acrocallosal syndrome
type: Class
subclass of: syndrome
database_cross_reference: UMLS_CUI:C0796147
database_cross_reference: MESH:D055673
definition: A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:200990
has_exact_synonym: ACLS
database_cross_reference: GARD:5721
database_cross_reference: SNOMEDCT_US_2020_03_01:715951007
database_cross_reference: NCI:C84531
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:9250
has_exact_synonym: SCHINZEL ACROCALLOSAL SYNDROME
has_exact_synonym: Schinzel syndrome 1
in_subset: NCIthesaurus
imported from: doid.owl

amino acid metabolic disorder
type: Class
subclass of: inherited metabolic disorder
database_cross_reference: UMLS_CUI:C0002514
id: DOID:9252
database_cross_reference: SNOMEDCT_US_2020_03_01:42930003
database_cross_reference: MESH:D000592
definition: An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E72.9
database_cross_reference: NCI:C97090
database_cross_reference: GARD:5793
database_cross_reference: ICD9CM:270
has_exact_synonym: inborn errors of amino acid metabolism
in_subset: NCIthesaurus
imported from: doid.owl

gastrointestinal stromal tumor
type: Class
subclass of: gastrointestinal system cancer
id: DOID:9253
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: OMIM:606764
database_cross_reference: GARD:8598
has_exact_synonym: GANT
database_cross_reference: UMLS_CUI:C0238198
database_cross_reference: ICD10CM:C49.A
database_cross_reference: MESH:D046152
database_cross_reference: NCI:C3868
has_obo_namespace: disease_ontology
has_exact_synonym: GIST
database_cross_reference: SNOMEDCT_US_2020_03_01:128755003
has_exact_synonym: Stromal tumor of gastrointestinal tract
has_exact_synonym: Stromal tumour of gastrointestinal tract
has_exact_synonym: gastrointestinal stromal tumour
in_subset: NCIthesaurus
imported from: doid.owl

mast-cell leukemia
type: Class
subclass of: leukemia
subclass of: mast cell neoplasm
database_cross_reference: NCI:C3169
database_cross_reference: ICD10CM:C94.3
definition: A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood.
database_cross_reference: MESH:D007946
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:110002002
database_cross_reference: UMLS_CUI:C0023461
id: DOID:9254
in_subset: NCIthesaurus
imported from: doid.owl

frontotemporal dementia
type: Class
subclass of: dementia
subclass of: brain disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:42369001
database_cross_reference: GARD:8436
database_cross_reference: OMIM:600274
id: DOID:9255
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:C563003
definition: A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
database_cross_reference: ORDO:282
database_cross_reference: UMLS_CUI:C0520716
has_exact_synonym: Wilhemsen-Lynch disease
has_exact_synonym: frontotemporal lobar degeneration
has_exact_synonym: multiple system tauopathy with presenile dementia
has_exact_synonym: pallidopontonigral degeneration
in_subset: DO FlyBase slim
in_subset: DO rare slim
imported from: doid.owl

colorectal cancer
type: Class
subclass of: large intestine cancer
database_cross_reference: ICD10CM:C18.9
database_cross_reference: MESH:D015179
database_cross_reference: NCI:C2956
database_cross_reference: OMIM:114500
database_cross_reference: UMLS_CUI:C0009404
definition: A large intestine cancer that is located_in the colon and/or located_in the rectum.
database_cross_reference: SNOMEDCT_US_2020_03_01:93854002
id: DOID:9256
database_cross_reference: SNOMEDCT_US_2020_03_01:126837005
database_cross_reference: KEGG:05210
database_cross_reference: NCI:C4978
database_cross_reference: UMLS_CUI:C0346629
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
in_subset: DO FlyBase slim
imported from: doid.owl

Waardenburg's syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: GARD:5525
id: DOID:9258
database_cross_reference: ORDO:895
database_cross_reference: UMLS_CUI:C3266898
database_cross_reference: NCI:C75008
definition: A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
database_cross_reference: SNOMEDCT_US_2020_03_01:47434006
database_cross_reference: UMLS_CUI:C0079661
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C85222
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:3440
database_cross_reference: MESH:D014849
database_cross_reference: UMLS_CUI:C1847800
database_cross_reference: OMIM:PS193500
has_exact_synonym: Waardenburg Shah syndrome
has_exact_synonym: Waardenburg syndrome
has_narrow_synonym: Waardenburg, types I and/or II
has_exact_synonym: van der Hoeve Halbertsona Waardenburg syndrome
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

nasopharynx carcinoma
type: Class
subclass of: respiratory system cancer
subclass of: pharynx cancer
subclass of: carcinoma
subclass of: nasopharyngeal disease
has_alternative_id: DOID:9144
database_cross_reference: ICD10CM:C11
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
id: DOID:9261
database_cross_reference: GARD:7163
database_cross_reference: ICD9CM:147.1
database_cross_reference: UMLS_CUI:C0153393
definition: A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.
database_cross_reference: UMLS_CUI:C0153392
database_cross_reference: ICD9CM:147.0
database_cross_reference: ORDO:150
database_cross_reference: SNOMEDCT_US_2020_03_01:363398003
has_alternative_id: DOID:8814
database_cross_reference: UMLS_CUI:C0153396
has_alternative_id: DOID:8813
database_cross_reference: UMLS_CUI:C0153395
database_cross_reference: ICD9CM:147.3
database_cross_reference: ICD9CM:147.2
has_alternative_id: DOID:9229
database_cross_reference: UMLS_CUI:C0153394
has_alternative_id: DOID:9057
database_cross_reference: SNOMEDCT_US_2020_03_01:187700006
database_cross_reference: SNOMEDCT_US_2020_03_01:94078000
database_cross_reference: MESH:D009303
database_cross_reference: SNOMEDCT_US_2020_03_01:93919005
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:187693006
database_cross_reference: UMLS_CUI:C0238301
database_cross_reference: ICD9CM:147
database_cross_reference: ICD10CM:C11.0
has_alternative_id: DOID:9197
database_cross_reference: ICD10CM:C11.3
database_cross_reference: ICD10CM:C11.2
database_cross_reference: SNOMEDCT_US_2020_03_01:187692001
database_cross_reference: ICD10CM:C11.1
has_exact_synonym: Nasopharyngeal carcinoma
database_cross_reference: OMIM:161550
database_cross_reference: OMIM:607107
database_cross_reference: NCI:C9321
has_related_synonym: carcinoma of nasopharynx
has_exact_synonym: malignant Nasopharyngeal tumor
has_exact_synonym: malignant neoplasm of nasopharynx
has_exact_synonym: nasopharynx cancer
in_subset: DO cancer slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

homocystinuria
type: Class
subclass of: amino acid metabolic disorder
definition: An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
database_cross_reference: ICD10CM:E72.11
database_cross_reference: OMIM:236200
database_cross_reference: ORDO:394
database_cross_reference: UMLS_CUI:C0019880
id: DOID:9263
database_cross_reference: OMIM:236250
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D006712
database_cross_reference: GARD:10770
database_cross_reference: NCI:C84765
comment: Xref MGI.
database_cross_reference: SNOMEDCT_US_2020_03_01:190709008
has_exact_synonym: CBS deficiency
has_exact_synonym: cystathionine beta synthase deficiency
has_exact_synonym: cystathionine synthase deficiency
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

histidine metabolism disease
type: Class
subclass of: amino acid metabolic disorder
definition: An amino acid metabolic disorder that involves deficiency in histidine.
database_cross_reference: SNOMEDCT_US_2020_03_01:44176004
database_cross_reference: ICD10CM:E70.4
has_obo_namespace: disease_ontology
has_exact_synonym: Disturbances of histidine metabolism
database_cross_reference: ICD9CM:270.5
database_cross_reference: UMLS_CUI:C0268512
id: DOID:9265
imported from: doid.owl

cystinuria
type: Class
subclass of: ureteral disease
subclass of: bladder disease
subclass of: kidney disease
subclass of: amino acid metabolic disorder
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:154738008
database_cross_reference: OMIM:220100
database_cross_reference: UMLS_CUI:C0010691
database_cross_reference: GARD:6237
definition: An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
database_cross_reference: NCI:C84664
database_cross_reference: ICD10CM:E72.01
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:214
id: DOID:9266
database_cross_reference: MESH:D003555
in_subset: NCIthesaurus
imported from: doid.owl

urea cycle disorder
type: Class
subclass of: amino acid metabolic disorder
database_cross_reference: MESH:D056806
definition: An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
database_cross_reference: UMLS_CUI:C0154246
database_cross_reference: SNOMEDCT_US_2020_03_01:36444000
database_cross_reference: GARD:7837
id: DOID:9267
database_cross_reference: ICD10CM:E72.2
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:270.6
database_cross_reference: NCI:C84785
has_exact_synonym: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
has_exact_synonym: disorder of urea cycle metabolism
has_exact_synonym: urea cycle defect
in_subset: NCIthesaurus
imported from: doid.owl

glycine encephalopathy
type: Class
subclass of: amino acid metabolic disorder
database_cross_reference: UMLS_CUI:C0751748
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:9268
database_cross_reference: OMIM:605899
database_cross_reference: ICD10CM:E72.51
database_cross_reference: SNOMEDCT_US_2020_03_01:237939006
database_cross_reference: NCI:C84937
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7219
database_cross_reference: MESH:D020158
definition: An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
has_exact_synonym: Non-ketotic hyperglycinemia
has_exact_synonym: nonketotic hyperglycinemia
in_subset: NCIthesaurus
imported from: doid.owl

maple syrup urine disease
type: Class
subclass of: organic acidemia
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_related_synonym: dihydrolipoamide dehydrogenase deficiency
id: DOID:9269
database_cross_reference: SNOMEDCT_US_2020_03_01:27718001
database_cross_reference: OMIM:615135
database_cross_reference: ICD10CM:E71.0
has_obo_namespace: disease_ontology
definition: An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
database_cross_reference: NCI:C34806
database_cross_reference: UMLS_CUI:C0024776
database_cross_reference: ORDO:511
database_cross_reference: OMIM:246900
database_cross_reference: OMIM:248600
database_cross_reference: GARD:3228
has_exact_synonym: Ketoacidaemia
database_cross_reference: MESH:D008375
has_exact_synonym: branched chain ketoaciduria
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

alkaptonuria
type: Class
subclass of: amino acid metabolic disorder
id: DOID:9270
database_cross_reference: UMLS_CUI:C0002066
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D000474
has_alternative_id: DOID:0050714
has_obo_namespace: disease_ontology
definition: An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
database_cross_reference: SNOMEDCT_US_2020_03_01:24250001
database_cross_reference: ICD10CM:E70.29
database_cross_reference: ORDO:56
database_cross_reference: GARD:5775
has_exact_synonym: Homogentisate 1,2-dioxygenase deficiency
database_cross_reference: NCI:C84546
database_cross_reference: OMIM:203500
has_exact_synonym: alcaptonuria
has_related_synonym: deficiency of homogentisicase
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

ornithine carbamoyltransferase deficiency
type: Class
subclass of: urea cycle disorder
database_cross_reference: ICD10CM:E72.4
database_cross_reference: NCI:C84957
definition: An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
database_cross_reference: SNOMEDCT_US_2020_03_01:80908008
database_cross_reference: MESH:D020163
database_cross_reference: OMIM:311250
has_obo_namespace: disease_ontology
database_cross_reference: GARD:8391
id: DOID:9271
database_cross_reference: UMLS_CUI:C0268542
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: deficiency of citrulline phosphorylase
has_exact_synonym: ornithine transcarbamylase deficiency
in_subset: NCIthesaurus
imported from: doid.owl

hyperlysinemia
type: Class
subclass of: amino acid metabolic disorder
database_cross_reference: UMLS_CUI:C0268553
database_cross_reference: OMIM:238710
database_cross_reference: OMIM:238700
database_cross_reference: NCI:C123433
id: DOID:9274
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:2828
has_obo_namespace: disease_ontology
definition: An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
database_cross_reference: MESH:D020167
database_cross_reference: SNOMEDCT_US_2020_03_01:58558003
database_cross_reference: ICD10CM:E72.3
database_cross_reference: ORDO:2203
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

tyrosinemia
type: Class
subclass of: amino acid metabolic disorder
database_cross_reference: MESH:D020176
id: DOID:9275
comment: OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference: ICD10CM:E70.21
has_obo_namespace: disease_ontology
definition: An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
database_cross_reference: SNOMEDCT_US_2020_03_01:190694001
database_cross_reference: NCI:C98640
database_cross_reference: UMLS_CUI:C0268483
in_subset: NCIthesaurus
imported from: doid.owl

hyperargininemia
type: Class
subclass of: urea cycle disorder
database_cross_reference: OMIM:207800
database_cross_reference: ICD10CM:E72.21
database_cross_reference: SNOMEDCT_US_2020_03_01:23501004
comment: OMIM mapping confirmed by DO. [SN].
id: DOID:9278
definition: An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
database_cross_reference: NCI:C84568
database_cross_reference: UMLS_CUI:C0268548
has_exact_synonym: argininemia
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020162
has_exact_synonym: Arginase deficiency
has_exact_synonym: deficiency of canavanase
in_subset: NCIthesaurus
imported from: doid.owl

hyperhomocysteinemia
type: Class
subclass of: amino acid metabolic disorder
definition: An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.
database_cross_reference: NCI:C84770
id: DOID:9279
database_cross_reference: UMLS_CUI:C0598608
database_cross_reference: SNOMEDCT_US_2020_03_01:419503008
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020138
in_subset: NCIthesaurus
imported from: doid.owl

carbamoyl phosphate synthetase I deficiency disease
type: Class
subclass of: autosomal recessive disease
subclass of: urea cycle disorder
definition: A urea cycle disorder that involves accumulation of ammonia in the blood.
database_cross_reference: UMLS_CUI:C0751753
database_cross_reference: SNOMEDCT_US_2020_03_01:765329008
database_cross_reference: OMIM:237300
id: DOID:9280
has_exact_synonym: CPS I deficiency
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C84612
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D020165
database_cross_reference: GARD:7269
in_subset: NCIthesaurus
imported from: doid.owl

phenylketonuria
type: Class
subclass of: amino acid metabolic disorder
id: DOID:9281
comment: OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:297225000
has_alternative_id: DOID:14455
database_cross_reference: SNOMEDCT_US_2020_03_01:154735006
database_cross_reference: OMIM:261600
database_cross_reference: NCI:C81315
database_cross_reference: MESH:D010661
database_cross_reference: GARD:7383
database_cross_reference: ICD9CM:270.1
database_cross_reference: MESH:D017042
database_cross_reference: UMLS_CUI:C0031485
database_cross_reference: UMLS_CUI:C0085547
definition: An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
has_exact_synonym: Folling's disease
database_cross_reference: ORDO:716
has_exact_synonym: PKU
has_exact_synonym: maternal phenylketonuria
has_exact_synonym: phenylalaninemia
in_subset: NCIthesaurus
imported from: doid.owl

ocular hypertension
type: Class
subclass of: eye disease
database_cross_reference: NCI:C3285
database_cross_reference: MESH:D009798
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:267721003
definition: An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.
database_cross_reference: ICD9CM:365.04
database_cross_reference: ICD10CM:H40.05
id: DOID:9282
database_cross_reference: UMLS_CUI:C0028840
in_subset: NCIthesaurus
imported from: doid.owl

priapism
type: Class
subclass of: penile disease
subclass of: peripheral vascular disease
definition: A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
id: DOID:9286
database_cross_reference: MESH:D011317
database_cross_reference: ICD9CM:607.3
database_cross_reference: NCI:C85022
database_cross_reference: ICD10CM:N48.3
has_obo_namespace: disease_ontology
database_cross_reference: GARD:10016
database_cross_reference: SNOMEDCT_US_2020_03_01:155930001
has_exact_synonym: Mentulagra
database_cross_reference: UMLS_CUI:C0033117
in_subset: NCIthesaurus
imported from: doid.owl

cleft lip
type: Class
subclass of: orofacial cleft
subclass of: lip disease
database_cross_reference: SNOMEDCT_US_2020_03_01:62696001
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:749.1
database_cross_reference: ICD10CM:Q36
database_cross_reference: UMLS_CUI:C0158651
database_cross_reference: NCI:C87175
database_cross_reference: UMLS_CUI:C0008924
database_cross_reference: ICD9CM:749.11
id: DOID:9296
database_cross_reference: SNOMEDCT_US_2020_03_01:156941008
database_cross_reference: MESH:D002971
database_cross_reference: EFO:0003959
has_alternative_id: DOID:9333
definition: An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.
has_exact_synonym: Labium leporinum
has_exact_synonym: cheiloschisis
has_exact_synonym: cleft lip, unilateral, complete
has_exact_synonym: complete unilateral cleft lip
has_exact_synonym: hare lip
in_subset: NCIthesaurus
imported from: doid.owl

lip disease
type: Class
subclass of: mouth disease
database_cross_reference: ICD10CM:K13.0
database_cross_reference: MESH:D008047
id: DOID:9297
database_cross_reference: UMLS_CUI:C0023760
database_cross_reference: SNOMEDCT_US_2020_03_01:90678009
database_cross_reference: NCI:C26818
has_obo_namespace: disease_ontology
definition: A mouth disease located_in the lip.
database_cross_reference: ICD9CM:528.5
has_exact_synonym: disease of lips
in_subset: NCIthesaurus
imported from: doid.owl

language disorder
type: Class
subclass of: communication disorder
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007806
database_cross_reference: SNOMEDCT_US_2020_03_01:62305002
database_cross_reference: NCI:C97155
database_cross_reference: ICD10CM:F80.9
definition: A communication disorder that involves the processing of linguistic information.
database_cross_reference: UMLS_CUI:C0023015
id: DOID:93
in_subset: NCIthesaurus
imported from: doid.owl

orbital disease
type: Class
subclass of: bone disease
database_cross_reference: ICD9CM:376.9
definition: An adnexa disease that is located_in the eye socket.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:267746003
database_cross_reference: UMLS_CUI:C0029182
id: DOID:930
database_cross_reference: ICD10CM:H05.9
database_cross_reference: MESH:D009916
imported from: doid.owl

rectal prolapse
type: Class
subclass of: rectal disease
database_cross_reference: MESH:D012005
database_cross_reference: NCI:C34973
database_cross_reference: ICD10CM:K62.3
database_cross_reference: UMLS_CUI:C0034888
id: DOID:9307
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:197214005
database_cross_reference: ICD9CM:569.1
has_exact_synonym: Procidentia, rectum
in_subset: NCIthesaurus
imported from: doid.owl

lymphangitis
type: Class
subclass of: lymphatic system disease
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C34790
database_cross_reference: SNOMEDCT_US_2020_03_01:1415005
database_cross_reference: ICD9CM:457.2
definition: A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning.
database_cross_reference: ICD10CM:I89.1
database_cross_reference: MESH:D008205
id: DOID:9317
database_cross_reference: UMLS_CUI:C0024225
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

scotoma
type: Class
subclass of: eye disease
has_alternative_id: DOID:10750
database_cross_reference: UMLS_CUI:C0152192
has_alternative_id: DOID:10751
database_cross_reference: UMLS_CUI:C0029657
database_cross_reference: ICD10CM:H53.45
database_cross_reference: ICD9CM:368.42
database_cross_reference: ICD9CM:368.44
has_exact_synonym: Blind spot area scotoma
database_cross_reference: ICD10CM:H53.42
has_alternative_id: DOID:9482
id: DOID:9335
has_exact_synonym: Enlarged angioscotoma
has_exact_synonym: Enlarged blind spot
has_exact_synonym: Enlarged paracaecal scotoma
has_exact_synonym: Generalized visual field contraction or constriction
has_exact_synonym: Scotoma of blind spot area
has_exact_synonym: Sector or arcuate visual field defects
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:33970004
imported from: doid.owl

viral infectious disease
type: Class
subclass of: disease by infectious agent
database_cross_reference: ICD9CM:060-066.99
id: DOID:934
database_cross_reference: NCI:C3439
definition: A disease by infectious agent that results in infection, has_material_basis_in Viruses.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D014777
database_cross_reference: MESH:D001102
database_cross_reference: ICD10CM:B34.9
database_cross_reference: UMLS_CUI:C0042769
database_cross_reference: SNOMEDCT_US_2020_03_01:34014006
has_alternative_id: DOID:1329
database_cross_reference: NCI:C34396
database_cross_reference: SNOMEDCT_US_2020_03_01:40610006
database_cross_reference: ICD10CM:A94
database_cross_reference: UMLS_CUI:C0003723
has_exact_synonym: Viral Infection
has_exact_synonym: Viral disease
has_exact_synonym: virus infection
in_subset: DO AGR slim
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

Taylor's syndrome
type: Class
subclass of: uterine disease
has_exact_synonym: Congestion-fibrosis syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:156027002
database_cross_reference: ICD9CM:625.5
id: DOID:9346
has_exact_synonym: Taylor syndrome
database_cross_reference: UMLS_CUI:C0152078
has_obo_namespace: disease_ontology
has_exact_synonym: pelvic congestion syndrome
imported from: doid.owl

carotid artery dissection
type: Class
subclass of: carotid artery disease
database_cross_reference: SNOMEDCT_US_2020_03_01:230729006
database_cross_reference: UMLS_CUI:C0338585
database_cross_reference: ICD10CM:I77.71
database_cross_reference: NCI:C125662
database_cross_reference: ICD9CM:443.21
has_obo_namespace: disease_ontology
has_exact_synonym: Carotid artery dissection
id: DOID:9348
has_exact_synonym: Dissection of carotid artery
in_subset: NCIthesaurus
imported from: doid.owl

diabetes mellitus
type: Class
subclass of: glucose metabolism disease
database_cross_reference: MESH:D003920
id: DOID:9351
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:250
database_cross_reference: NCI:C2985
database_cross_reference: UMLS_CUI:C0011849
definition: A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
database_cross_reference: ICD10CM:E08-E13
database_cross_reference: SNOMEDCT_US_2020_03_01:267467004
in_subset: NCIthesaurus
imported from: doid.owl

type 2 diabetes mellitus
type: Class
subclass of: diabetes mellitus
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0011860
database_cross_reference: NCI:C26747
database_cross_reference: SNOMEDCT_US_2020_03_01:44054006
database_cross_reference: OMIM:601283
database_cross_reference: OMIM:601407
database_cross_reference: MESH:D003924
has_exact_synonym: insulin resistance
definition: A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
database_cross_reference: KEGG:04930
database_cross_reference: EFO:0001360
id: DOID:9352
database_cross_reference: OMIM:603694
database_cross_reference: OMIM:125853
database_cross_reference: OMIM:608036
database_cross_reference: ICD10CM:E11
has_exact_synonym: NIDDM
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_exact_synonym: non-insulin-dependent diabetes mellitus
has_exact_synonym: type 2 diabetes
has_exact_synonym: type II diabetes mellitus
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

brain disease
type: Class
subclass of: central nervous system disease
database_cross_reference: ICD9CM:348.30
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0006111
has_alternative_id: DOID:8510
database_cross_reference: ICD10CM:G93.9
database_cross_reference: SNOMEDCT_US_2020_03_01:81308009
database_cross_reference: NCI:C26920
definition: A central nervous system disease that is located_in the brain.
database_cross_reference: NCI:C96413
database_cross_reference: ICD10CM:G93.40
id: DOID:936
database_cross_reference: UMLS_CUI:C0085584
database_cross_reference: MESH:D001927
database_cross_reference: ICD9CM:348.9
has_exact_synonym: encephalopathy
in_subset: NCIthesaurus
imported from: doid.owl

status asthmaticus
type: Class
subclass of: acute asthma
database_cross_reference: NCI:C122577
id: DOID:9362
database_cross_reference: SNOMEDCT_US_2020_03_01:36979006
database_cross_reference: UMLS_CUI:C0038218
definition: An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.
has_exact_synonym: Asthma with status asthmaticus
database_cross_reference: MESH:D013224
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:493.91
has_exact_synonym: Severe asthma attack
in_subset: NCIthesaurus
imported from: doid.owl

vesiculitis
type: Class
subclass of: male reproductive system disease
database_cross_reference: UMLS_CUI:C0042588
database_cross_reference: SNOMEDCT_US_2020_03_01:155935006
id: DOID:9365
database_cross_reference: ICD10CM:N49.0
database_cross_reference: ICD9CM:608.0
has_exact_synonym: Seminal vesiculitis
has_obo_namespace: disease_ontology
imported from: doid.owl

keratoconjunctivitis
type: Class
subclass of: eye disease
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:155154005
database_cross_reference: ICD10CM:H16.2
database_cross_reference: MESH:D007637
has_alternative_id: DOID:9367
database_cross_reference: UMLS_CUI:C0022573
id: DOID:9368
database_cross_reference: ICD9CM:370.40
database_cross_reference: NCI:C34744
in_subset: NCIthesaurus
imported from: doid.owl

exophthalmos
type: Class
subclass of: eye disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H05.20
database_cross_reference: SNOMEDCT_US_2020_03_01:155200004
database_cross_reference: NCI:C87114
id: DOID:9370
database_cross_reference: MESH:D005094
database_cross_reference: UMLS_CUI:C0015300
database_cross_reference: ICD9CM:376.30
definition: An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
has_exact_synonym: proptosis
in_subset: NCIthesaurus
imported from: doid.owl

Fuchs' heterochromic uveitis
type: Class
subclass of: syndrome
definition: A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface.
database_cross_reference: SNOMEDCT_US_2020_03_01:11226001
has_obo_namespace: disease_ontology
has_exact_synonym: Fuch's Heterochromic iridocyclitis
has_exact_synonym: Fuchs uveitis syndrome
has_exact_synonym: Fuchs' heterochromic cyclitis
database_cross_reference: ICD10CM:H20.81
database_cross_reference: ICD9CM:364.21
id: DOID:9375
database_cross_reference: UMLS_CUI:C0016782
database_cross_reference: GARD:6791
imported from: doid.owl

iridocyclitis
type: Class
subclass of: anterior uveitis
has_alternative_id: DOID:9380
database_cross_reference: UMLS_CUI:C0007832
database_cross_reference: ICD9CM:364.2
id: DOID:9383
database_cross_reference: SNOMEDCT_US_2020_03_01:193496008
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H20.01
database_cross_reference: UMLS_CUI:C0154909
database_cross_reference: ICD9CM:364.01
database_cross_reference: SNOMEDCT_US_2020_03_01:193485000
has_alternative_id: DOID:9376
has_exact_synonym: primary iridocyclitis
imported from: doid.owl

tracheitis
type: Class
subclass of: tracheal disease
database_cross_reference: NCI:C78643
database_cross_reference: ICD9CM:464.1
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D014136
database_cross_reference: SNOMEDCT_US_2020_03_01:155507000
database_cross_reference: ICD10CM:J04.1
database_cross_reference: SNOMEDCT_US_2020_03_01:62994001
definition: A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
has_alternative_id: DOID:0050149
has_alternative_id: DOID:9391
id: DOID:9392
database_cross_reference: UMLS_CUI:C0040584
database_cross_reference: UMLS_CUI:C0149513
has_exact_synonym: acute tracheitis
has_exact_synonym: chronic tracheitis
in_subset: NCIthesaurus
imported from: doid.owl

croup
type: Class
subclass of: respiratory system disease
database_cross_reference: MESH:D003440
id: DOID:9395
database_cross_reference: NCI:C26735
database_cross_reference: UMLS_CUI:C0010380
definition: A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus.
database_cross_reference: ICD9CM:464.4
database_cross_reference: ICD10CM:J05.0
has_exact_synonym: Croup syndrome
has_exact_synonym: Laryngotracheobronchitis
database_cross_reference: SNOMEDCT_US_2020_03_01:71186008
has_exact_synonym: acute Obstructive Laryngitis
has_exact_synonym: acute laryngotracheobronchitis
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

epiglottitis
type: Class
subclass of: upper respiratory tract disease
database_cross_reference: SNOMEDCT_US_2020_03_01:80384002
database_cross_reference: SNOMEDCT_US_2020_03_01:29608009
database_cross_reference: UMLS_CUI:C0155814
database_cross_reference: NCI:C116007
database_cross_reference: ICD10CM:J05.10
database_cross_reference: MESH:D004826
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0014541
has_alternative_id: DOID:9479
has_alternative_id: DOID:9481
database_cross_reference: ICD9CM:464.3
definition: An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor.
id: DOID:9398
has_alternative_id: DOID:9397
database_cross_reference: ICD10CM:J05.1
has_exact_synonym: acute epiglottitis
has_exact_synonym: acute epiglottitis and supraglottitis
in_subset: NCIthesaurus
imported from: doid.owl

epididymo-orchitis
type: Class
subclass of: epididymitis
database_cross_reference: ICD10CM:N45.3
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0149881
id: DOID:9401
database_cross_reference: SNOMEDCT_US_2020_03_01:24084007
database_cross_reference: ICD9CM:604
imported from: doid.owl

epididymitis
type: Class
subclass of: epididymis disease
id: DOID:9402
database_cross_reference: MESH:D004823
database_cross_reference: SNOMEDCT_US_2020_03_01:155914009
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:N45.1
database_cross_reference: UMLS_CUI:C0014534
imported from: doid.owl

hypopituitarism
type: Class
subclass of: pituitary gland disease
database_cross_reference: ICD10CM:E23.0
database_cross_reference: UMLS_CUI:C0020635
database_cross_reference: OMIM:613986
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C62591
database_cross_reference: GARD:2917
database_cross_reference: OMIM:613038
comment: Xref MGI.
database_cross_reference: OMIM:221750
database_cross_reference: OMIM:262600
database_cross_reference: OMIM:262700
database_cross_reference: SNOMEDCT_US_2020_03_01:74728003
definition: A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
id: DOID:9406
database_cross_reference: ORDO:95494
database_cross_reference: MESH:D007018
has_related_synonym: Pituitary hypofunction
has_exact_synonym: Pituitary insufficiency
has_exact_synonym: pituitary hormone deficiency
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

diabetes insipidus
type: Class
subclass of: kidney disease
database_cross_reference: SNOMEDCT_US_2020_03_01:190484000
database_cross_reference: UMLS_CUI:C0011848
id: DOID:9409
database_cross_reference: NCI:C43263
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:E23.2
database_cross_reference: MESH:D003919
database_cross_reference: ICD9CM:253.5
in_subset: NCIthesaurus
imported from: doid.owl

blepharitis
type: Class
subclass of: eyelid disease
database_cross_reference: ICD9CM:373.4
database_cross_reference: MESH:D001762
has_alternative_id: DOID:13824
database_cross_reference: SNOMEDCT_US_2020_03_01:193907001
definition: An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow.
database_cross_reference: ICD10CM:H01.0
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155181
id: DOID:9423
database_cross_reference: SNOMEDCT_US_2020_03_01:193920003
database_cross_reference: UMLS_CUI:C0005741
database_cross_reference: ICD9CM:373.0
database_cross_reference: NCI:C112183
in_subset: NCIthesaurus
imported from: doid.owl

intracranial hypertension
type: Class
subclass of: brain disease
database_cross_reference: NCI:C84791
has_exact_synonym: Raised intracranial pressure
database_cross_reference: UMLS_CUI:C0151740
database_cross_reference: MESH:D019586
has_obo_namespace: disease_ontology
definition: A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.
id: DOID:9428
database_cross_reference: SNOMEDCT_US_2020_03_01:155052007
in_subset: NCIthesaurus
imported from: doid.owl

renal glycosuria
type: Class
subclass of: renal tubular transport disease
database_cross_reference: ICD9CM:271.4
database_cross_reference: ICD10CM:E74.8
has_obo_namespace: disease_ontology
id: DOID:9432
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:D006030
database_cross_reference: OMIM:233100
database_cross_reference: SNOMEDCT_US_2020_03_01:190759004
database_cross_reference: UMLS_CUI:C0017980
database_cross_reference: GARD:7548
has_exact_synonym: renal diabetes
imported from: doid.owl

chronic cholangitis
type: Class
subclass of: cholangitis
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0267918
database_cross_reference: NCI:C35335
id: DOID:9439
database_cross_reference: SNOMEDCT_US_2020_03_01:71912000
in_subset: NCIthesaurus
imported from: doid.owl

cholangitis
type: Class
subclass of: bile duct disease
database_cross_reference: MESH:D002761
id: DOID:9446
database_cross_reference: UMLS_CUI:C0008311
database_cross_reference: ICD10CM:K83.0
database_cross_reference: NCI:C26718
has_obo_namespace: disease_ontology
definition: A bile duct disease that is an inflammation of the bile duct.
database_cross_reference: ICD9CM:576.1
database_cross_reference: SNOMEDCT_US_2020_03_01:155831003
in_subset: NCIthesaurus
imported from: doid.owl

fatty liver disease
type: Class
subclass of: lipid storage disease
database_cross_reference: SNOMEDCT_US_2020_03_01:50325005
database_cross_reference: MESH:D005234
database_cross_reference: MESH:D005235
definition: A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis.
id: DOID:9452
database_cross_reference: UMLS_CUI:C0015695
database_cross_reference: UMLS_CUI:C0015696
database_cross_reference: OMIM:228100
has_alternative_id: DOID:9451
has_exact_synonym: Fatty change of liver
comment: PRISM.
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:371330000
database_cross_reference: ICD10CM:K70.0
database_cross_reference: ICD9CM:571.0
has_exact_synonym: Steatosis of liver
has_exact_synonym: alcoholic fatty liver
has_exact_synonym: hepatic lipidosis
in_subset: DO FlyBase slim
imported from: doid.owl

lipid storage disease
type: Class
subclass of: lysosomal storage disease
database_cross_reference: SNOMEDCT_US_2020_03_01:154744007
database_cross_reference: ICD9CM:272.7
database_cross_reference: ICD9CM:272.8
database_cross_reference: UMLS_CUI:C0023794
has_alternative_id: DOID:10583
has_obo_namespace: disease_ontology
definition: A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
id: DOID:9455
has_exact_synonym: Lipoid storage diseas
has_exact_synonym: Lipoidosis
database_cross_reference: MESH:D008064
database_cross_reference: UMLS_CUI:C0029591
database_cross_reference: SNOMEDCT_US_2020_03_01:11455007
database_cross_reference: ICD10CM:E75.6
has_exact_synonym: inborn lipid storage disorder
has_exact_synonym: lipoidosis
imported from: doid.owl

uterine corpus cancer
type: Class
subclass of: uterine cancer
database_cross_reference: NCI:C3556
has_obo_namespace: disease_ontology
definition: A uterine cancer that is located_in the uterine corpus.
database_cross_reference: UMLS_CUI:C0153574
id: DOID:9460
database_cross_reference: ICD10CM:C54
database_cross_reference: ICD9CM:182
database_cross_reference: SNOMEDCT_US_2020_03_01:93718007
has_exact_synonym: corpus uteri cancer
in_subset: NCIthesaurus
imported from: doid.owl

exposure keratitis
type: Class
subclass of: keratoconjunctivitis
database_cross_reference: SNOMEDCT_US_2020_03_01:14366000
database_cross_reference: ICD10CM:H16.21
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0339295
database_cross_reference: ICD9CM:370.34
id: DOID:9461
has_exact_synonym: Exposure keratoconjunctivitis
has_exact_synonym: lagophthalmic keratitis
imported from: doid.owl

otitis externa
type: Class
subclass of: external ear disease
definition: An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections.
id: DOID:9463
has_alternative_id: DOID:9785
database_cross_reference: ICD9CM:380.1
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C3299
database_cross_reference: SNOMEDCT_US_2020_03_01:194198006
database_cross_reference: UMLS_CUI:C0021355
has_exact_synonym: swimmer's ear
in_subset: NCIthesaurus
imported from: doid.owl

nail-patella syndrome
type: Class
subclass of: autosomal dominant disease
subclass of: syndrome
database_cross_reference: ICD10CM:Q87.2
database_cross_reference: MESH:D009261
has_exact_synonym: Fong disease
database_cross_reference: NCI:C75120
database_cross_reference: SNOMEDCT_US_2020_03_01:22199006
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027341
database_cross_reference: MEDDRA:10063431
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:2614
database_cross_reference: GARD:7160
database_cross_reference: OMIM:161200
definition: A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in LMX1B on chromosome 9q33.3.
id: DOID:9467
has_exact_synonym: Turner-Kiser syndrome
has_exact_synonym: hereditary onychoostedysplasia
has_exact_synonym: iliac horn syndrome
has_exact_synonym: nail patella syndrome
in_subset: NCIthesaurus
imported from: doid.owl

meningitis
type: Class
subclass of: central nervous system disease
database_cross_reference: ICD10CM:G03
database_cross_reference: ICD9CM:322.9
has_obo_namespace: disease_ontology
definition: A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells.
database_cross_reference: NCI:C26828
has_alternative_id: DOID:9712
database_cross_reference: UMLS_CUI:C0025289
database_cross_reference: MESH:D008581
id: DOID:9471
database_cross_reference: SNOMEDCT_US_2020_03_01:154983000
in_subset: GOLD
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary embolism
type: Class
subclass of: pulmonary artery disease
database_cross_reference: NCI:C50713
database_cross_reference: ICD10CM:I26
comment: PRISM.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0034065
id: DOID:9477
definition: An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.
database_cross_reference: SNOMEDCT_US_2020_03_01:194882001
database_cross_reference: MESH:D011655
has_exact_synonym: pulmonary artery embolism
has_exact_synonym: pulmonary embolus
in_subset: NCIthesaurus
imported from: doid.owl

dacryoadenitis
type: Class
subclass of: lacrimal apparatus disease
database_cross_reference: UMLS_CUI:C0155223
database_cross_reference: ICD9CM:375.0
database_cross_reference: ICD10CM:H04.0
id: DOID:950
database_cross_reference: MESH:D003607
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:86927009
database_cross_reference: NCI:C26971
in_subset: NCIthesaurus
imported from: doid.owl

leukocyte disease
type: Class
subclass of: hematopoietic system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:191369001
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007960
id: DOID:9500
database_cross_reference: ICD10CM:D72.9
database_cross_reference: UMLS_CUI:C0023510
definition: A hematopoietic system disease that is located_in white blood cells.
database_cross_reference: ICD9CM:288
imported from: doid.owl

cannabis abuse
type: Class
subclass of: substance abuse
has_alternative_id: DOID:2525
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:F12.1
database_cross_reference: SNOMEDCT_US_2020_03_01:37344009
database_cross_reference: MESH:D002189
id: DOID:9505
definition: A substance abuse that involves the recurring use of cannabis despite negative consequences.
database_cross_reference: UMLS_CUI:C0006868
database_cross_reference: ICD9CM:305.2
database_cross_reference: ICD10CM:F12
database_cross_reference: UMLS_CUI:C0024809
database_cross_reference: SNOMEDCT_US_2020_03_01:268769003
has_exact_synonym: marijuana abuse
imported from: doid.owl

ethmoid sinusitis
type: Class
subclass of: sinusitis
database_cross_reference: NCI:C34597
database_cross_reference: ICD10CM:J32.2
database_cross_reference: MESH:D015521
database_cross_reference: UMLS_CUI:C0015029
id: DOID:9507
database_cross_reference: SNOMEDCT_US_2020_03_01:18643000
has_obo_namespace: disease_ontology
definition: A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead.
has_exact_synonym: ethmoidal sinusitis
has_exact_synonym: ethmoiditis
in_subset: NCIthesaurus
imported from: doid.owl

Laron syndrome
type: Class
subclass of: autosomal recessive disease
subclass of: syndrome
id: DOID:9521
database_cross_reference: GARD:6859
database_cross_reference: SNOMEDCT_US_2020_03_01:38196001
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:E34.3
database_cross_reference: UMLS_CUI:C0271568
database_cross_reference: MESH:D046150
has_exact_synonym: Laron-type isolated somatotropin defect
database_cross_reference: ORDO:633
database_cross_reference: OMIM:262500
definition: A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.
database_cross_reference: NCI:C130994
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

latent syphilis
type: Class
subclass of: syphilis
has_alternative_id: DOID:12913
database_cross_reference: SNOMEDCT_US_2020_03_01:444150000
database_cross_reference: UMLS_CUI:C0039133
has_alternative_id: DOID:12912
definition: A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease.
has_alternative_id: DOID:9492
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D013592
database_cross_reference: NCI:C35056
id: DOID:9531
database_cross_reference: ICD9CM:097.1
database_cross_reference: ICD10CM:A53.0
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

Lassa fever
type: Class
subclass of: viral infectious disease
database_cross_reference: MESH:D007835
definition: A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding.
database_cross_reference: ICD10CM:A96.2
database_cross_reference: NCI:C128418
database_cross_reference: UMLS_CUI:C0023092
id: DOID:9537
database_cross_reference: SNOMEDCT_US_2020_03_01:19065005
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

multiple myeloma
type: Class
subclass of: myeloid neoplasm
subclass of: leukocyte disease
id: DOID:9538
database_cross_reference: EFO:0001378
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:94705007
definition: A myeloid neoplasm that is located_in the plasma cells in bone marrow.
database_cross_reference: NCI:C3242
database_cross_reference: OMIM:254500
database_cross_reference: MESH:D009101
database_cross_reference: ICD10CM:C90.0
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ORDO:29073
database_cross_reference: UMLS_CUI:C0026764
database_cross_reference: GARD:7108
database_cross_reference: ICD9CM:203.0
has_exact_synonym: plasma cell myeloma
in_subset: DO cancer slim
in_subset: NCIthesaurus
imported from: doid.owl

adrenal gland disease
type: Class
subclass of: endocrine system disease
database_cross_reference: UMLS_CUI:C0001621
database_cross_reference: NCI:C26690
database_cross_reference: ICD9CM:255.9
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D000307
id: DOID:9553
database_cross_reference: SNOMEDCT_US_2020_03_01:30171000
database_cross_reference: ICD10CM:E27.9
definition: An endocrine system disease that is located_in the adrenal gland.
in_subset: NCIthesaurus
imported from: doid.owl

nasopharyngeal disease
type: Class
subclass of: upper respiratory tract disease
id: DOID:9561
database_cross_reference: MESH:D009302
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0027438
database_cross_reference: SNOMEDCT_US_2020_03_01:123952009
database_cross_reference: NCI:C35723
in_subset: NCIthesaurus
imported from: doid.owl

primary ciliary dyskinesia
type: Class
subclass of: ciliopathy
database_cross_reference: OMIM:PS244400
database_cross_reference: MESH:D002925
has_alternative_id: DOID:2925
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
database_cross_reference: ORDO:244
has_obo_namespace: disease_ontology
database_cross_reference: GARD:4484
database_cross_reference: SNOMEDCT_US_2020_03_01:86204009
database_cross_reference: UMLS_CUI:C0008780
id: DOID:9562
database_cross_reference: NCI:C84638
has_exact_synonym: ciliary motility disorder
has_exact_synonym: immotile ciliary syndrome
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

bronchiectasis
type: Class
subclass of: bronchial disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0006267
database_cross_reference: ORDO:60033
database_cross_reference: OMIM:PS211400
database_cross_reference: ICD9CM:494
id: DOID:9563
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
definition: A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
has_alternative_id: DOID:11047
database_cross_reference: ICD10CM:J47
database_cross_reference: SNOMEDCT_US_2020_03_01:155580000
database_cross_reference: OMIM:613021
database_cross_reference: MESH:D001987
database_cross_reference: NCI:C84475
has_alternative_id: DOID:11046
has_alternative_id: DOID:9571
database_cross_reference: OMIM:211400
database_cross_reference: OMIM:613071
has_exact_synonym: Polynesian bronchiectasis
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

dextrocardia
type: Class
subclass of: congenital heart disease
database_cross_reference: NCI:C84669
database_cross_reference: SNOMEDCT_US_2020_03_01:27637000
database_cross_reference: ICD10CM:Q24.0
id: DOID:9565
database_cross_reference: GARD:1827
database_cross_reference: UMLS_CUI:C0011813
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D003914
has_exact_synonym: Heart predominantly in right hemithorax
in_subset: NCIthesaurus
imported from: doid.owl

choanal atresia
type: Class
subclass of: nasal cavity disease
database_cross_reference: UMLS_CUI:C0008297
has_obo_namespace: disease_ontology
has_alternative_id: DOID:14713
database_cross_reference: ICD9CM:748.0
database_cross_reference: ICD10CM:Q30.0
database_cross_reference: MESH:C562435
database_cross_reference: OMIM:608911
id: DOID:9574
database_cross_reference: MESH:D002754
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: Atresia of nares
has_exact_synonym: Imperforate nares
database_cross_reference: SNOMEDCT_US_2020_03_01:156934002
database_cross_reference: UMLS_CUI:C0220723
has_exact_synonym: posterior choanal atresia
imported from: doid.owl

neonatal candidiasis
type: Class
subclass of: candidiasis
database_cross_reference: UMLS_CUI:C0276682
id: DOID:9577
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C116810
definition: A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates.
database_cross_reference: ICD10CM:P37.5
database_cross_reference: ICD9CM:771.7
has_exact_synonym: Neonatal Candida infection
has_exact_synonym: Neonatal candida infection
has_exact_synonym: Neonatal monilia infection
database_cross_reference: SNOMEDCT_US_2020_03_01:3973009
has_exact_synonym: neonatal moniliasis
in_subset: NCIthesaurus
imported from: doid.owl

Venezuelan equine encephalitis
type: Class
subclass of: viral infectious disease
database_cross_reference: ICD10CM:A92.2
database_cross_reference: SNOMEDCT_US_2020_03_01:89990001
database_cross_reference: GARD:6355
database_cross_reference: UMLS_CUI:C0014078
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:066.2
database_cross_reference: NCI:C35121
database_cross_reference: MESH:D004685
id: DOID:9584
definition: A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region.
has_related_synonym: Venezuelan equine fever
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

encephalitis
type: Class
subclass of: brain disease
id: DOID:9588
database_cross_reference: UMLS_CUI:C0014038
has_alternative_id: DOID:2160
database_cross_reference: MESH:D004660
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:267682000
definition: A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.
database_cross_reference: NCI:C26760
in_subset: NCIthesaurus
imported from: doid.owl

fasciitis
type: Class
subclass of: connective tissue disease
database_cross_reference: SNOMEDCT_US_2020_03_01:36948007
database_cross_reference: ICD9CM:729.4
id: DOID:9598
database_cross_reference: NCI:C50559
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D005208
database_cross_reference: ICD10CM:M72.9
definition: A connective tissue disease characterized by inflammation located in the fascia.
database_cross_reference: UMLS_CUI:C0015645
in_subset: NCIthesaurus
imported from: doid.owl

staphyloenterotoxemia
type: Class
subclass of: primary bacterial infectious disease
definition: A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness.
database_cross_reference: UMLS_CUI:C0038159
database_cross_reference: SNOMEDCT_US_2020_03_01:84622004
database_cross_reference: NCI:C35037
database_cross_reference: MESH:D013202
database_cross_reference: ICD9CM:005.0
database_cross_reference: ICD10CM:A05.0
id: DOID:96
has_exact_synonym: Staphylococcal food poisoning
has_exact_synonym: Staphylococcal toxaemia due to food
has_obo_namespace: disease_ontology
has_exact_synonym: staphyloenterotoxicosis
in_subset: GOLD
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

plantar fasciitis
type: Class
subclass of: fasciitis
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D036981
database_cross_reference: UMLS_CUI:C0149756
database_cross_reference: ICD10CM:M72.2
database_cross_reference: SNOMEDCT_US_2020_03_01:203056001
id: DOID:9600
imported from: doid.owl

necrotizing fasciitis
type: Class
subclass of: fasciitis
database_cross_reference: UMLS_CUI:C0238124
id: DOID:9602
database_cross_reference: MESH:D019115
database_cross_reference: ICD10CM:M72.6
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6454
database_cross_reference: ICD9CM:728.86
database_cross_reference: NCI:C84916
database_cross_reference: SNOMEDCT_US_2020_03_01:186428007
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

neurofibroma
type: Class
subclass of: peripheral nerve sheath neoplasm
database_cross_reference: NCI:C3272
database_cross_reference: MESH:D009455
id: DOID:962
has_obo_namespace: disease_ontology
database_cross_reference: GARD:7191
database_cross_reference: SNOMEDCT_US_2020_03_01:404029005
database_cross_reference: UMLS_CUI:C0027830
in_subset: NCIthesaurus
imported from: doid.owl

vesicoureteral reflux
type: Class
subclass of: ureteral disease
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0042580
database_cross_reference: ICD10CM:N13.7
database_cross_reference: OMIM:193000
database_cross_reference: OMIM:613674
database_cross_reference: ICD9CM:593.7
database_cross_reference: OMIM:610878
database_cross_reference: OMIM:615390
database_cross_reference: MESH:D014718
database_cross_reference: OMIM:314550
database_cross_reference: OMIM:614674
database_cross_reference: ORDO:289365
database_cross_reference: SNOMEDCT_US_2020_03_01:197811007
database_cross_reference: OMIM:614319
definition: A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
database_cross_reference: OMIM:614318
database_cross_reference: OMIM:614317
database_cross_reference: OMIM:615963
database_cross_reference: NCI:C84467
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].
id: DOID:9620
has_exact_synonym: vesico-ureteral reflux
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

kidney hypertrophy
type: Class
subclass of: kidney disease
database_cross_reference: ICD10CM:N28.81
database_cross_reference: UMLS_CUI:C0156259
database_cross_reference: NCI:C122991
id: DOID:9622
database_cross_reference: ICD9CM:593.1
database_cross_reference: SNOMEDCT_US_2020_03_01:197800004
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

episodic ataxia
type: Class
subclass of: hereditary ataxia
database_cross_reference: ORDO:211062
database_cross_reference: SNOMEDCT_US_2020_03_01:421455009
database_cross_reference: MESH:C580065
id: DOID:963
comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI.
database_cross_reference: GARD:9851
definition: A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
has_exact_synonym: Isaacs syndrome
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1720189
in_subset: DO rare slim
imported from: doid.owl

Pelger-Huet anomaly
type: Class
subclass of: autosomal dominant disease
subclass of: hematopoietic system disease
definition: A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D010381
database_cross_reference: SNOMEDCT_US_2020_03_01:85559002
database_cross_reference: OMIM:169400
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: NCI:C85002
database_cross_reference: GARD:9148
id: DOID:9631
database_cross_reference: UMLS_CUI:C0030779
in_subset: NCIthesaurus
imported from: doid.owl

stomatitis
type: Class
subclass of: lip disease
database_cross_reference: MESH:D013280
database_cross_reference: NCI:C26887
database_cross_reference: SNOMEDCT_US_2020_03_01:95361005
id: DOID:9637
database_cross_reference: UMLS_CUI:C0038362
database_cross_reference: ICD10CM:K12.1
definition: A mouth disease that is characterized by inflammation of the mouth and lips.
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

sarcocystosis
type: Class
subclass of: coccidiosis
database_cross_reference: UMLS_CUI:C0036231
id: DOID:9640
database_cross_reference: ICD9CM:136.5
database_cross_reference: SNOMEDCT_US_2020_03_01:88905005
database_cross_reference: ICD10CM:A07.8
database_cross_reference: MESH:D012523
has_exact_synonym: Sarcosporidiosis
has_obo_namespace: disease_ontology
definition: A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy.
imported from: doid.owl

babesiosis
type: Class
subclass of: parasitic protozoa infectious disease
database_cross_reference: ICD10CM:B60.0
database_cross_reference: ICD9CM:088.82
database_cross_reference: UMLS_CUI:C0004576
database_cross_reference: GARD:5878
id: DOID:9643
definition: A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease.
has_obo_namespace: disease_ontology
has_exact_synonym: Babesiasis
has_exact_synonym: Infection by babesia
database_cross_reference: MESH:D001404
database_cross_reference: SNOMEDCT_US_2020_03_01:187241002
database_cross_reference: NCI:C84581
has_exact_synonym: piroplasmosis
in_subset: NCIthesaurus
in_subset: tick-borne infectious disease
in_subset: zoonotic infectious disease
imported from: doid.owl

congenital nystagmus
type: Class
subclass of: physical disorder
subclass of: pathologic nystagmus
database_cross_reference: ICD9CM:379.51
database_cross_reference: ORDO:651
database_cross_reference: ICD10CM:H55.01
database_cross_reference: OMIM:PS310700
id: DOID:9649
comment: Xref MGI.
database_cross_reference: UMLS_CUI:C0700501
has_obo_namespace: disease_ontology
definition: A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.
database_cross_reference: MESH:D020417
database_cross_reference: SNOMEDCT_US_2020_03_01:155205009
in_subset: DO rare slim
imported from: doid.owl

pathologic nystagmus
type: Class
subclass of: ocular motility disease
database_cross_reference: ICD9CM:379.50
database_cross_reference: UMLS_CUI:C0028738
database_cross_reference: NCI:C3282
id: DOID:9650
database_cross_reference: MESH:D009759
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H55.0
database_cross_reference: SNOMEDCT_US_2020_03_01:194171007
in_subset: NCIthesaurus
imported from: doid.owl

systolic heart failure
type: Class
subclass of: congestive heart failure
database_cross_reference: ICD10CM:I50.20
database_cross_reference: MESH:D054143
id: DOID:9651
database_cross_reference: ICD9CM:428.2
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C1135191
database_cross_reference: SNOMEDCT_US_2020_03_01:417996009
imported from: doid.owl

aphthous stomatitis
type: Class
subclass of: stomatitis
id: DOID:9663
database_cross_reference: NCI:C62546
database_cross_reference: GARD:5834
database_cross_reference: ICD9CM:528.2
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:398870000
database_cross_reference: UMLS_CUI:C0038363
database_cross_reference: MESH:D013281
definition: A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.
has_exact_synonym: Aphtha
has_exact_synonym: Aphthous ulceration
has_exact_synonym: Canker sore
has_exact_synonym: Oral aphthae
has_related_synonym: Oral aphthous ulcer
has_exact_synonym: oral ulcer
in_subset: NCIthesaurus
imported from: doid.owl

placental abruption
type: Class
subclass of: placenta disease
database_cross_reference: SNOMEDCT_US_2020_03_01:54048003
id: DOID:9667
database_cross_reference: NCI:C112857
has_obo_namespace: disease_ontology
definition: A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
has_alternative_id: DOID:13233
has_alternative_id: DOID:13234
has_alternative_id: DOID:14406
database_cross_reference: MESH:D000033
database_cross_reference: UMLS_CUI:C0000821
has_alternative_id: DOID:13587
comment: PRISM.
database_cross_reference: ICD10CM:O20.0
has_alternative_id: DOID:9666
has_alternative_id: DOID:12976
database_cross_reference: ICD9CM:640.0
has_alternative_id: DOID:12977
has_alternative_id: DOID:13627
has_exact_synonym: abruptio placenta
has_exact_synonym: abruptio placentae
in_subset: NCIthesaurus
imported from: doid.owl

senile cataract
type: Class
subclass of: cataract
database_cross_reference: NCI:C35012
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0036646
database_cross_reference: ICD10CM:H25
definition: A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.
database_cross_reference: SNOMEDCT_US_2020_03_01:39450006
database_cross_reference: ICD9CM:366.1
id: DOID:9669
in_subset: NCIthesaurus
imported from: doid.owl

ulcerative stomatitis
type: Class
subclass of: stomatitis
database_cross_reference: ICD10CM:K12.1
id: DOID:9673
database_cross_reference: MESH:D005892
database_cross_reference: SNOMEDCT_US_2020_03_01:450005
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0038367
database_cross_reference: NCI:C35039
in_subset: NCIthesaurus
imported from: doid.owl

pulmonary emphysema
type: Class
subclass of: chronic obstructive pulmonary disease
database_cross_reference: OMIM:130700
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:492.8
database_cross_reference: ICD10CM:J43.8
id: DOID:9675
database_cross_reference: SNOMEDCT_US_2020_03_01:195962007
database_cross_reference: UMLS_CUI:C0029607
imported from: doid.owl

cervical incompetence
type: Class
subclass of: cervix disease
has_obo_namespace: disease_ontology
definition: A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term.
database_cross_reference: UMLS_CUI:C0007871
database_cross_reference: ICD10CM:N88.3
id: DOID:9681
database_cross_reference: NCI:C50607
database_cross_reference: SNOMEDCT_US_2020_03_01:36836005
database_cross_reference: MESH:D002581
database_cross_reference: ICD9CM:622.5
in_subset: NCIthesaurus
imported from: doid.owl

yellow fever
type: Class
subclass of: viral infectious disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015004
database_cross_reference: NCI:C35547
database_cross_reference: GARD:7914
has_alternative_id: DOID:9684
definition: A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood.
has_alternative_id: DOID:9683
database_cross_reference: ICD10CM:A95
id: DOID:9682
database_cross_reference: ICD9CM:060
database_cross_reference: SNOMEDCT_US_2020_03_01:154345006
database_cross_reference: UMLS_CUI:C0043395
has_exact_synonym: Sylvatic yellow fever
has_exact_synonym: Yellow fever, sylvan
has_exact_synonym: jungle yellow fever
has_exact_synonym: urban yellow fever
in_subset: NCIthesaurus
in_subset: zoonotic infectious disease
imported from: doid.owl

ophthalmia neonatorum
type: Class
subclass of: bacterial conjunctivitis
database_cross_reference: SNOMEDCT_US_2020_03_01:206345004
database_cross_reference: UMLS_CUI:C0027611
has_alternative_id: DOID:10601
database_cross_reference: NCI:C116815
database_cross_reference: ICD9CM:771.6
definition: A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge.
id: DOID:9699
database_cross_reference: GARD:2546
has_exact_synonym: Gonococcal conjunctivitis
has_exact_synonym: Gonococcal ophthalmia neonatorum
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:P39.1
has_exact_synonym: Neonatal conjunctivitis
database_cross_reference: SNOMEDCT_US_2020_03_01:80881003
database_cross_reference: UMLS_CUI:C0029076
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

tenosynovitis
type: Class
subclass of: arthropathy
subclass of: tendinitis
database_cross_reference: MESH:D013717
id: DOID:970
has_exact_synonym: Inflammation of tendon sheath
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0039520
database_cross_reference: SNOMEDCT_US_2020_03_01:240035004
imported from: doid.owl

bacterial conjunctivitis
type: Class
subclass of: bacterial infectious disease
subclass of: conjunctivitis
database_cross_reference: ICD10CM:H10.0
database_cross_reference: UMLS_CUI:C0009768
database_cross_reference: NCI:C53656
database_cross_reference: MESH:D003234
id: DOID:9700
has_exact_synonym: Purulent conjunctivitis
database_cross_reference: SNOMEDCT_US_2020_03_01:193877001
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

tendinitis
type: Class
subclass of: myositis
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:312785002
database_cross_reference: MESH:D052256
id: DOID:971
database_cross_reference: NCI:C97141
database_cross_reference: UMLS_CUI:C0039503
database_cross_reference: ICD10CM:M77.9
in_subset: NCIthesaurus
imported from: doid.owl

occlusion of gallbladder
type: Class
subclass of: gallbladder disease
database_cross_reference: SNOMEDCT_US_2020_03_01:197415009
id: DOID:9714
database_cross_reference: ICD9CM:575.2
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C78308
has_exact_synonym: Obstruction of gallbladder
database_cross_reference: UMLS_CUI:C0156214
database_cross_reference: ICD10CM:K82.0
in_subset: NCIthesaurus
imported from: doid.owl

neovascular inflammatory vitreoretinopathy
type: Class
subclass of: retinal disease
subclass of: vitreous disease
database_cross_reference: OMIM:193235
has_obo_namespace: disease_ontology
id: DOID:9719
database_cross_reference: MESH:D018630
database_cross_reference: ORDO:329211
has_exact_synonym: ADNIV
database_cross_reference: SNOMEDCT_US_2020_03_01:232016005
database_cross_reference: UMLS_CUI:C0242852
definition: A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in CAPN5 on chromosome 11q13.5.
has_exact_synonym: Retinitis proliferans
has_exact_synonym: autosomal dominant neovascular inflammatory vitreoretinopathy
has_exact_synonym: proliferative vitreoretinopathy
imported from: doid.owl

vitreous disease
type: Class
subclass of: eye disease
database_cross_reference: ICD9CM:379.24
database_cross_reference: ICD10CM:H43.39
id: DOID:9720
definition: An eye and adnexa disease that is located in the vitreous of the eye.
database_cross_reference: SNOMEDCT_US_2020_03_01:194154006
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029872
imported from: doid.owl

purulent endophthalmitis
type: Class
subclass of: endophthalmitis
database_cross_reference: UMLS_CUI:C0259800
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H44.0
database_cross_reference: SNOMEDCT_US_2020_03_01:41720003
database_cross_reference: ICD9CM:360.0
id: DOID:9724
imported from: doid.owl

vitreous detachment
type: Class
subclass of: vitreous disease
has_obo_namespace: disease_ontology
id: DOID:9726
database_cross_reference: SNOMEDCT_US_2020_03_01:267747007
database_cross_reference: UMLS_CUI:C0042907
database_cross_reference: MESH:D020255
database_cross_reference: ICD10CM:H43.81
database_cross_reference: NCI:C50807
in_subset: NCIthesaurus
imported from: doid.owl

renal tuberculosis
type: Class
subclass of: urogenital tuberculosis
subclass of: kidney disease
database_cross_reference: MESH:D014398
definition: An urogenital tuberculosis that results_in formation of granulomas located_in kidney.
database_cross_reference: ICD9CM:016.0
id: DOID:9733
database_cross_reference: SNOMEDCT_US_2020_03_01:44323002
database_cross_reference: UMLS_CUI:C0041328
database_cross_reference: NCI:C123020
has_exact_synonym: Tuberculosis of kidney
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
in_subset: gram-positive bacterial infectious disease
imported from: doid.owl

eustachian tube disease
type: Class
subclass of: non-suppurative otitis media
database_cross_reference: UMLS_CUI:C0155435
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:194277003
database_cross_reference: ICD9CM:381.8
id: DOID:9739
definition: A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation.
imported from: doid.owl

upper respiratory tract disease
type: Class
subclass of: respiratory system disease
definition: A respiratory system disease which involves the upper respiratory tract.
id: DOID:974
database_cross_reference: ICD9CM:478.19
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029581
database_cross_reference: SNOMEDCT_US_2020_03_01:195823002
imported from: doid.owl

postcholecystectomy syndrome
type: Class
subclass of: biliary tract disease
database_cross_reference: UMLS_CUI:C0152099
database_cross_reference: ICD9CM:576.0
database_cross_reference: SNOMEDCT_US_2020_03_01:90782003
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:K91.5
id: DOID:9740
database_cross_reference: MESH:D017562
imported from: doid.owl

biliary tract disease
type: Class
subclass of: hepatobiliary disease
database_cross_reference: ICD9CM:576.9
has_obo_namespace: disease_ontology
id: DOID:9741
database_cross_reference: UMLS_CUI:C0005424
database_cross_reference: MESH:D001660
database_cross_reference: ICD10CM:K83.9
database_cross_reference: SNOMEDCT_US_2020_03_01:5235004
imported from: doid.owl

pelvic varices
type: Class
subclass of: varicose veins
database_cross_reference: ICD10CM:I86.2
definition: A varicose veins that is located_in the pelvis.
database_cross_reference: UMLS_CUI:C0155795
id: DOID:9742
database_cross_reference: SNOMEDCT_US_2020_03_01:266271008
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:456.5
imported from: doid.owl

diabetic neuropathy
type: Class
subclass of: neuropathy
id: DOID:9743
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:250.6
database_cross_reference: MESH:D003929
database_cross_reference: UMLS_CUI:C0011882
database_cross_reference: SNOMEDCT_US_2020_03_01:193182005
database_cross_reference: NCI:C26748
in_subset: NCIthesaurus
imported from: doid.owl

emphysematous cholecystitis
type: Class
subclass of: cholecystitis
id: DOID:9765
definition: Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues.
database_cross_reference: UMLS_CUI:C0521610
database_cross_reference: MESH:D041882
database_cross_reference: SNOMEDCT_US_2020_03_01:95558008
has_exact_synonym: Gaseous pericholecystitis
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C35592
in_subset: NCIthesaurus
imported from: doid.owl

xanthogranulomatous cholecystitis
type: Class
subclass of: cholecystitis
has_obo_namespace: disease_ontology
database_cross_reference: MESH:C536762
id: DOID:9766
database_cross_reference: GARD:9451
database_cross_reference: UMLS_CUI:C1337035
database_cross_reference: SNOMEDCT_US_2020_03_01:448286002
database_cross_reference: NCI:C35792
in_subset: NCIthesaurus
imported from: doid.owl

myocardial stunning
type: Class
subclass of: myocardial infarction
database_cross_reference: UMLS_CUI:C0206146
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D017682
id: DOID:9767
imported from: doid.owl

heart aneurysm
type: Class
subclass of: heart disease
database_cross_reference: UMLS_CUI:C0018789
id: DOID:9768
database_cross_reference: SNOMEDCT_US_2020_03_01:155317009
database_cross_reference: ICD10CM:I25.3
database_cross_reference: MESH:D006322
has_exact_synonym: cardiac aneurysm
has_obo_namespace: disease_ontology
imported from: doid.owl

diastolic heart failure
type: Class
subclass of: congestive heart failure
database_cross_reference: UMLS_CUI:C1135196
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:I50.30
id: DOID:9775
database_cross_reference: SNOMEDCT_US_2020_03_01:418304008
database_cross_reference: ICD9CM:428.3
database_cross_reference: MESH:D054144
imported from: doid.owl

irritable bowel syndrome
type: Class
subclass of: intestinal disease
database_cross_reference: SNOMEDCT_US_2020_03_01:155783000
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:564.1
database_cross_reference: MESH:D043183
database_cross_reference: UMLS_CUI:C0022104
id: DOID:9778
definition: An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.
has_exact_synonym: IBD
database_cross_reference: NCI:C82343
database_cross_reference: ICD10CM:K58
database_cross_reference: KEGG:05321
has_exact_synonym: Irritable colon
has_related_synonym: Psychogenic IBS
in_subset: NCIthesaurus
imported from: doid.owl

bowel dysfunction
type: Class
subclass of: intestinal disease
id: DOID:9779
database_cross_reference: SNOMEDCT_US_2020_03_01:81120009
database_cross_reference: ICD10CM:K59.9
database_cross_reference: UMLS_CUI:C0016807
database_cross_reference: ICD9CM:564.9
has_obo_namespace: disease_ontology
imported from: doid.owl

trichinosis
type: Class
subclass of: parasitic helminthiasis infectious disease
database_cross_reference: MESH:D014235
has_obo_namespace: disease_ontology
id: DOID:9784
database_cross_reference: NCI:C85199
database_cross_reference: SNOMEDCT_US_2020_03_01:709018004
database_cross_reference: ICD10CM:B75
definition: A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur.
database_cross_reference: ICD9CM:124
has_exact_synonym: Trichinella spiralis infection
database_cross_reference: UMLS_CUI:C0040896
in_subset: NCIthesaurus
imported from: doid.owl

toxocariasis
type: Class
subclass of: muscular disease
subclass of: heart disease
subclass of: liver disease
subclass of: eye disease
subclass of: lung disease
subclass of: parasitic helminthiasis infectious disease
subclass of: brain disease
definition: A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions.
has_exact_synonym: Infection by Toxascaris
database_cross_reference: UMLS_CUI:C0023049
database_cross_reference: SNOMEDCT_US_2020_03_01:87121004
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007816
id: DOID:9790
has_alternative_id: DOID:9791
database_cross_reference: NCI:C34758
database_cross_reference: ICD10CM:B83.0
database_cross_reference: GARD:7788
has_exact_synonym: Toxocara infection
has_exact_synonym: visceral larva migrans
in_subset: NCIthesaurus
imported from: doid.owl

hereditary choroidal atrophy
type: Class
subclass of: choroidal sclerosis
database_cross_reference: UMLS_CUI:C0154893
database_cross_reference: ICD10CM:H31.2
database_cross_reference: ICD9CM:363.5
id: DOID:9794
database_cross_reference: SNOMEDCT_US_2020_03_01:74469006
has_obo_namespace: disease_ontology
imported from: doid.owl

eye degenerative disease
type: Class
subclass of: eye disease
database_cross_reference: ICD9CM:360.4
database_cross_reference: UMLS_CUI:C0154777
id: DOID:9799
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H44.5
database_cross_reference: SNOMEDCT_US_2020_03_01:62585004
imported from: doid.owl

choroidal sclerosis
type: Class
subclass of: choroid disease
subclass of: eye degenerative disease
database_cross_reference: ICD9CM:363.4
has_exact_synonym: Choroidal degenerations
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD10CM:H31.10
database_cross_reference: SNOMEDCT_US_2020_03_01:47638000
database_cross_reference: MESH:C535358
has_obo_namespace: disease_ontology
id: DOID:980
database_cross_reference: UMLS_CUI:C0344297
database_cross_reference: OMIM:215500
imported from: doid.owl

Goodpasture syndrome
type: Class
subclass of: autoimmune disease of urogenital tract
subclass of: kidney disease
subclass of: lung disease
database_cross_reference: NCI:C84566
database_cross_reference: GARD:2551
database_cross_reference: MESH:D019867
database_cross_reference: UMLS_CUI:C0403529
database_cross_reference: OMIM:233450
database_cross_reference: ICD10CM:M31.0
id: DOID:9808
has_obo_namespace: disease_ontology
has_alternative_id: DOID:9812
database_cross_reference: ICD9CM:446.21
database_cross_reference: SNOMEDCT_US_2020_03_01:788613004
definition: An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.
comment: OMIM mapping confirmed by DO. [SN].
has_exact_synonym: anti-GBM disease
has_exact_synonym: anti-glomerular basement membrane disease
in_subset: NCIthesaurus
imported from: doid.owl

hypersensitivity vasculitis
type: Class
subclass of: hypersensitivity reaction type III disease
definition: A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers.
database_cross_reference: UMLS_CUI:C0151436
database_cross_reference: GARD:7851
database_cross_reference: MESH:D018366
database_cross_reference: NCI:C35119
database_cross_reference: SNOMEDCT_US_2020_03_01:195350001
id: DOID:9809
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:446.2
database_cross_reference: ICD10CM:M31.0
in_subset: NCIthesaurus
imported from: doid.owl

polyarteritis nodosa
type: Class
subclass of: vasculitis
database_cross_reference: GARD:7360
definition: A vasculitis that is characterized by necrotizing inflammation of medium or small arteries.
database_cross_reference: ICD10CM:M30.0
database_cross_reference: SNOMEDCT_US_2020_03_01:195347004
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C26847
database_cross_reference: ICD9CM:446.0
id: DOID:9810
database_cross_reference: MESH:D010488
database_cross_reference: UMLS_CUI:C0031036
in_subset: NCIthesaurus
imported from: doid.owl

choroideremia
type: Class
subclass of: choroid disease
database_cross_reference: ICD10CM:H31.21
database_cross_reference: UMLS_CUI:C0008525
database_cross_reference: GARD:6061
database_cross_reference: NCI:C34469
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D015794
database_cross_reference: ORDO:180
id: DOID:9821
database_cross_reference: ICD9CM:363.55
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: SNOMEDCT_US_2020_03_01:75241009
database_cross_reference: OMIM:303100
has_exact_synonym: progressive Choroidal Atrophy
in_subset: NCIthesaurus
imported from: doid.owl

partial central choroid dystrophy
type: Class
subclass of: hereditary choroidal atrophy
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0339427
database_cross_reference: OMIM:613105
database_cross_reference: SNOMEDCT_US_2020_03_01:193468002
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:363.53
has_exact_synonym: Choroidal dystrophy, central areolar
id: DOID:9822
imported from: doid.owl

radioulnar synostosis
type: Class
subclass of: physical disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:33313004
database_cross_reference: ICD9CM:755.53
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: MESH:C562408
database_cross_reference: UMLS_CUI:C0158761
database_cross_reference: ICD10CM:Q74.0
id: DOID:9827
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:179300
imported from: doid.owl

neonatal abstinence syndrome
type: Class
subclass of: withdrawal disorder
has_obo_namespace: disease_ontology
has_alternative_id: DOID:6679
id: DOID:9828
database_cross_reference: MESH:D009357
database_cross_reference: ICD10CM:P96.1
database_cross_reference: SNOMEDCT_US_2020_03_01:414819007
database_cross_reference: NCI:C87101
database_cross_reference: NCI:C35808
database_cross_reference: ICD9CM:779.5
definition: A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.
has_exact_synonym: Drug withdrawal syndrome in newborn
database_cross_reference: UMLS_CUI:C0027609
database_cross_reference: UMLS_CUI:C1332133
in_subset: NCIthesaurus
imported from: doid.owl

hyperopia
type: Class
subclass of: refractive error
database_cross_reference: MESH:D006956
id: DOID:9834
database_cross_reference: ICD9CM:367.0
database_cross_reference: UMLS_CUI:C0020490
database_cross_reference: SNOMEDCT_US_2020_03_01:38101003
has_exact_synonym: Far-sightedness
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H52.0
has_exact_synonym: hypermetropia
imported from: doid.owl

refractive error
type: Class
subclass of: eye disease
has_obo_namespace: disease_ontology
database_cross_reference: EFO:0003908
id: DOID:9835
database_cross_reference: NCI:C87145
database_cross_reference: UMLS_CUI:C0034951
database_cross_reference: SNOMEDCT_US_2020_03_01:39021009
database_cross_reference: MESH:D012030
database_cross_reference: ICD10CM:H52.7
in_subset: NCIthesaurus
imported from: doid.owl

hypertropia
type: Class
subclass of: strabismus
database_cross_reference: ICD9CM:378.31
database_cross_reference: UMLS_CUI:C0020575
database_cross_reference: NCI:C34716
database_cross_reference: SNOMEDCT_US_2020_03_01:40608009
id: DOID:9837
database_cross_reference: ICD10CM:H50.2
database_cross_reference: MESH:D013285
has_obo_namespace: disease_ontology
in_subset: NCIthesaurus
imported from: doid.owl

accommodative esotropia
type: Class
subclass of: esotropia
has_obo_namespace: disease_ontology
id: DOID:9839
database_cross_reference: UMLS_CUI:C0155336
database_cross_reference: SNOMEDCT_US_2020_03_01:194112008
database_cross_reference: ICD9CM:378.35
database_cross_reference: ICD10CM:H50.43
imported from: doid.owl

esotropia
type: Class
subclass of: strabismus
id: DOID:9840
database_cross_reference: ICD9CM:378.0
database_cross_reference: UMLS_CUI:C0014877
definition: A strabismus that is characterized the eye which turns inward toward the nose.
database_cross_reference: NCI:C34596
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D004948
database_cross_reference: ICD10CM:H50.0
database_cross_reference: SNOMEDCT_US_2020_03_01:155193001
database_cross_reference: GARD:8235
has_exact_synonym: Convergence in manifest squint
has_exact_synonym: Internal Strabismus
has_exact_synonym: crossed eyes
in_subset: NCIthesaurus
imported from: doid.owl

hypotropia
type: Class
subclass of: strabismus
database_cross_reference: ICD9CM:378.32
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0152208
id: DOID:9841
database_cross_reference: NCI:C42086
database_cross_reference: SNOMEDCT_US_2020_03_01:29491004
in_subset: NCIthesaurus
imported from: doid.owl

peripheral vertigo
type: Class
subclass of: vestibular disease
database_cross_reference: ICD9CM:386.19
database_cross_reference: SNOMEDCT_US_2020_03_01:194359006
database_cross_reference: UMLS_CUI:C0029706
id: DOID:9847
database_cross_reference: ICD10CM:H81.399
has_obo_namespace: disease_ontology
imported from: doid.owl

endolymphatic hydrops
type: Class
subclass of: peripheral vertigo
has_obo_namespace: disease_ontology
id: DOID:9848
database_cross_reference: ICD10CM:H81.0
database_cross_reference: UMLS_CUI:C0206586
database_cross_reference: SNOMEDCT_US_2020_03_01:194346003
database_cross_reference: MESH:D018159
has_exact_synonym: labyrinthine hydrops
imported from: doid.owl

Meniere's disease
type: Class
subclass of: endolymphatic hydrops
database_cross_reference: SNOMEDCT_US_2020_03_01:194346003
database_cross_reference: GARD:10340
database_cross_reference: OMIM:156000
database_cross_reference: ICD9CM:386.0
database_cross_reference: MESH:D008575
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0025281
definition: A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:H81.0
id: DOID:9849
has_exact_synonym: Meniere disease
has_exact_synonym: Mnire's vertigo
has_exact_synonym: Otogenic vertigo
imported from: doid.owl

deep keratitis
type: Class
subclass of: keratitis
database_cross_reference: UMLS_CUI:C0155087
database_cross_reference: ICD10CM:H16.3
database_cross_reference: SNOMEDCT_US_2020_03_01:193783008
database_cross_reference: ICD9CM:370.5
id: DOID:9858
has_obo_namespace: disease_ontology
imported from: doid.owl

alopecia areata
type: Class
subclass of: autoimmune disease of skin and connective tissue
database_cross_reference: ICD10CM:L63
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:704.01
has_exact_synonym: Circumscribed alopecia
database_cross_reference: UMLS_CUI:C0002171
database_cross_reference: SNOMEDCT_US_2020_03_01:201131001
id: DOID:986
database_cross_reference: OMIM:104000
definition: An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
database_cross_reference: OMIM:610753
database_cross_reference: EFO:0004192
database_cross_reference: GARD:5782
database_cross_reference: MESH:D000506
imported from: doid.owl

intestinal disaccharidase deficiency
type: Class
subclass of: carbohydrate metabolic disorder
subclass of: intestinal disease
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:271.3
database_cross_reference: UMLS_CUI:C0021830
database_cross_reference: NCI:C34731
id: DOID:9868
in_subset: NCIthesaurus
imported from: doid.owl

hereditary fructose intolerance syndrome
type: Class
subclass of: carbohydrate metabolic disorder
database_cross_reference: OMIM:229600
id: DOID:9869
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:271.2
database_cross_reference: NCI:C84720
database_cross_reference: UMLS_CUI:C0016751
database_cross_reference: MESH:D005633
has_exact_synonym: Fructosaemia
has_exact_synonym: Fructose-1,6-bisphosphate aldolase B deficiency
has_exact_synonym: Fructosemia
database_cross_reference: ICD10CM:E74.12
database_cross_reference: SNOMEDCT_US_2020_03_01:20290005
in_subset: NCIthesaurus
imported from: doid.owl

alopecia
type: Class
subclass of: hypotrichosis
database_cross_reference: OMIM:PS203655
database_cross_reference: NCI:C50575
database_cross_reference: ICD10CM:L65.9
database_cross_reference: MESH:D000505
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:270504008
definition: A hypotrichosis that is characterized by a loss of hair from the head or body.
id: DOID:987
database_cross_reference: ICD9CM:704.0
database_cross_reference: UMLS_CUI:C0002170
in_subset: NCIthesaurus
imported from: doid.owl

galactosemia
type: Class
subclass of: carbohydrate metabolic disorder
definition: A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0016952
comment: OMIM mapping by NeuroDevNet. [LS].
database_cross_reference: ICD9CM:271.1
database_cross_reference: MESH:D005693
id: DOID:9870
database_cross_reference: ICD10CM:E74.21
database_cross_reference: SNOMEDCT_US_2020_03_01:38177000
database_cross_reference: NCI:C84723
database_cross_reference: GARD:2424
has_exact_synonym: Galactosaemia
has_exact_synonym: Galactose intolerance
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

mitral valve prolapse
type: Class
subclass of: mitral valve disease
id: DOID:988
database_cross_reference: OMIM:610840
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:157700
database_cross_reference: OMIM:607829
database_cross_reference: MESH:D008945
definition: A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
has_exact_synonym: Barlow's syndrome
database_cross_reference: SNOMEDCT_US_2020_03_01:8074002
database_cross_reference: UMLS_CUI:C0026267
database_cross_reference: NCI:C50655
has_exact_synonym: floppy mitral valve
has_related_synonym: mitral leaflet syndrome
has_related_synonym: myxomatous mitral valve prolapse
has_related_synonym: systolic click-murmur syndrome
in_subset: NCIthesaurus
imported from: doid.owl

Becker muscular dystrophy
type: Class
subclass of: muscular dystrophy
database_cross_reference: SNOMEDCT_US_2020_03_01:111501005
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0699741
definition: A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21.
has_exact_synonym: Benign pseudohypertrophic muscular dystrophy
database_cross_reference: GARD:5900
database_cross_reference: ORDO:98895
has_obo_namespace: disease_ontology
database_cross_reference: OMIM:300376
id: DOID:9883
has_exact_synonym: benign congenital myopathy
imported from: doid.owl

muscular dystrophy
type: Class
subclass of: myopathy
database_cross_reference: OMIM:309930
database_cross_reference: NCI:C84910
database_cross_reference: OMIM:309950
id: DOID:9884
database_cross_reference: OMIM:600416
database_cross_reference: SNOMEDCT_US_2020_03_01:155095006
database_cross_reference: ICD10CM:G71.0
definition: A myopathy is characterized by progressive skeletal muscle weakness degeneration.
database_cross_reference: GARD:7922
database_cross_reference: OMIM:159050
database_cross_reference: UMLS_CUI:C0026850
database_cross_reference: MESH:D009136
database_cross_reference: OMIM:310000
database_cross_reference: OMIM:158800
database_cross_reference: OMIM:310095
has_obo_namespace: disease_ontology
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

congenital heart block
type: Class
subclass of: atrioventricular block
subclass of: physical disorder
database_cross_reference: GARD:6164
definition: An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life.
id: DOID:990
database_cross_reference: OMIM:234700
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0149530
database_cross_reference: SNOMEDCT_US_2020_03_01:156924006
database_cross_reference: MESH:C535758
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: ICD9CM:746.86
database_cross_reference: ICD10CM:Q24.6
imported from: doid.owl

follicular mucinosis
type: Class
subclass of: sebaceous gland disease
database_cross_reference: UMLS_CUI:C0002173
database_cross_reference: MESH:D000507
has_exact_synonym: Alopecia mucinosa
has_obo_namespace: disease_ontology
id: DOID:9905
database_cross_reference: NCI:C82859
database_cross_reference: ICD10CM:L65.2
database_cross_reference: SNOMEDCT_US_2020_03_01:201150001
in_subset: NCIthesaurus
imported from: doid.owl

hordeolum
type: Class
subclass of: eyelid disease
database_cross_reference: UMLS_CUI:C0019917
database_cross_reference: ICD10CM:H00.01
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:74612003
id: DOID:9909
definition: Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection.
has_exact_synonym: Boil of eyelid
database_cross_reference: MESH:D006726
has_exact_synonym: Furuncle of eyelid
database_cross_reference: NCI:C118722
has_exact_synonym: Stye
in_subset: NCIthesaurus
imported from: doid.owl

hydrocele
type: Class
subclass of: male reproductive system disease
has_obo_namespace: disease_ontology
id: DOID:9912
imported from: doid.owl

developmental coordination disorder
type: Class
subclass of: specific developmental disorder
database_cross_reference: SNOMEDCT_US_2020_03_01:27544004
database_cross_reference: MESH:D019957
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C92561
database_cross_reference: UMLS_CUI:C0011757
definition: A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired.
database_cross_reference: ICD9CM:315.4
database_cross_reference: ICD10CM:F82
id: DOID:9923
in_subset: NCIthesaurus
imported from: doid.owl

Waterhouse-Friderichsen syndrome
type: Class
subclass of: adrenal gland disease
has_obo_namespace: disease_ontology
definition: An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland.
id: DOID:9931
has_alternative_id: DOID:12613
has_exact_synonym: Meningococcal hemorrhagic adrenalitis
database_cross_reference: SNOMEDCT_US_2020_03_01:267484005
database_cross_reference: UMLS_CUI:C0043068
database_cross_reference: NCI:C85225
database_cross_reference: GARD:9449
database_cross_reference: MESH:D014884
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
imported from: doid.owl

chronic inflammation of lacrimal passage
type: Class
subclass of: lacrimal apparatus disease
database_cross_reference: ICD9CM:375.4
database_cross_reference: ICD10CM:H04.4
id: DOID:9935
definition: A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0155239
database_cross_reference: SNOMEDCT_US_2020_03_01:193990009
imported from: doid.owl

chronic dacryocystitis
type: Class
subclass of: dacryocystitis
id: DOID:9937
database_cross_reference: ICD9CM:375.42
database_cross_reference: UMLS_CUI:C0149506
database_cross_reference: SNOMEDCT_US_2020_03_01:193990009
database_cross_reference: ICD10CM:H04.41
has_obo_namespace: disease_ontology
imported from: doid.owl

dacryocystitis
type: Class
subclass of: acute inflammation of lacrimal passage
definition: An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge.
database_cross_reference: UMLS_CUI:C0010930
database_cross_reference: NCI:C34521
database_cross_reference: ICD9CM:375.30
database_cross_reference: ICD10CM:H04.30
database_cross_reference: MESH:D003607
has_obo_namespace: disease_ontology
id: DOID:9938
database_cross_reference: SNOMEDCT_US_2020_03_01:267738004
in_subset: NCIthesaurus
imported from: doid.owl

dacryocystocele
type: Class
subclass of: chronic inflammation of lacrimal passage
database_cross_reference: ICD9CM:375.43
database_cross_reference: NCI:C98968
database_cross_reference: UMLS_CUI:C0155241
database_cross_reference: SNOMEDCT_US_2020_03_01:42758002
has_obo_namespace: disease_ontology
id: DOID:9939
has_exact_synonym: lacrimal mucocele
in_subset: NCIthesaurus
imported from: doid.owl

lymph node disease
type: Class
subclass of: lymphatic system disease
database_cross_reference: SNOMEDCT_US_2020_03_01:76616003
database_cross_reference: UMLS_CUI:C0272394
database_cross_reference: NCI:C35346
has_obo_namespace: disease_ontology
id: DOID:9942
in_subset: NCIthesaurus
imported from: doid.owl

steroid-induced glaucoma
type: Class
subclass of: glaucoma
database_cross_reference: UMLS_CUI:C0339578
database_cross_reference: SNOMEDCT_US_2020_03_01:1654001
database_cross_reference: ICD9CM:365.3
definition: A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use.
has_exact_synonym: Corticosteroid-induced glaucoma
id: DOID:9946
has_obo_namespace: disease_ontology
imported from: doid.owl

acute lymphoblastic leukemia
type: Class
subclass of: acute leukemia
database_cross_reference: NCI:C7055
database_cross_reference: OMIM:247640
database_cross_reference: EFO:0000220
database_cross_reference: GARD:522
has_alternative_id: DOID:5600
comment: Xref MGI.
database_cross_reference: SNOMEDCT_US_2020_03_01:128822004
database_cross_reference: OMIM:613065
database_cross_reference: UMLS_CUI:C0023449
database_cross_reference: ORDO:513
id: DOID:9952
database_cross_reference: ICD10CM:C91.00
has_exact_synonym: ALL
database_cross_reference: UMLS_CUI:C1335469
database_cross_reference: ICD9CM:204.0
database_cross_reference: NCI:C3167
has_exact_synonym: precursor lymphoblastic lymphoma/leukemia
definition: A acute leukemia that is characterized by over production of lymphoblasts.
has_exact_synonym: acute lymphoblastic leukaemia
has_exact_synonym: acute lymphoblastic leukemia
has_exact_synonym: acute lymphocytic leukaemia
has_obo_namespace: disease_ontology
in_subset: DO cancer slim
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hypoplastic left heart syndrome
type: Class
subclass of: congenital heart disease
database_cross_reference: MESH:D018636
database_cross_reference: UMLS_CUI:C0152101
has_obo_namespace: disease_ontology
database_cross_reference: ORDO:2248
database_cross_reference: OMIM:614435
database_cross_reference: SNOMEDCT_US_2020_03_01:62067003
database_cross_reference: ICD9CM:746.7
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].
database_cross_reference: GARD:6739
database_cross_reference: NCI:C98894
definition: A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.
database_cross_reference: ICD10CM:Q23.4
id: DOID:9955
database_cross_reference: OMIM:241550
in_subset: DO rare slim
in_subset: NCIthesaurus
imported from: doid.owl

hemometra
type: Class
subclass of: uterine disease
database_cross_reference: SNOMEDCT_US_2020_03_01:38280009
database_cross_reference: ICD9CM:621.4
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:N85.7
database_cross_reference: MESH:D006409
id: DOID:9958
definition: A uterine disease that is characterized by the presence of blood in the uterine cavity.
database_cross_reference: UMLS_CUI:C0018948
has_exact_synonym: Hematometra
imported from: doid.owl

toxoplasmosis
type: Class
subclass of: coccidiosis
has_alternative_id: DOID:13344
database_cross_reference: MESH:D014123
has_alternative_id: DOID:13334
id: DOID:9965
database_cross_reference: NCI:C3418
database_cross_reference: SNOMEDCT_US_2020_03_01:266225001
database_cross_reference: ICD10CM:B58
has_obo_namespace: disease_ontology
definition: A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.
database_cross_reference: ICD9CM:130
database_cross_reference: UMLS_CUI:C0040558
has_alternative_id: DOID:13339
has_exact_synonym: disseminated toxoplasmosis
in_subset: NCIthesaurus
imported from: doid.owl

uterine inversion
type: Class
subclass of: uterine disease
database_cross_reference: ICD9CM:665.2
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:156233003
database_cross_reference: ICD10CM:N85.5
definition: A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth.
id: DOID:997
database_cross_reference: UMLS_CUI:C0162482
database_cross_reference: MESH:D019687
imported from: doid.owl

obesity
type: Class
subclass of: overnutrition
database_cross_reference: EFO:0001073
id: DOID:9970
database_cross_reference: MESH:D009765
comment: OMIM mapping confirmed by DO. [SN].
database_cross_reference: UMLS_CUI:C0028754
database_cross_reference: ICD9CM:278.00
database_cross_reference: OMIM:601665
has_obo_namespace: disease_ontology
database_cross_reference: NCI:C159658
database_cross_reference: ICD10CM:E66.9
definition: An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
database_cross_reference: SNOMEDCT_US_2020_03_01:5476005
in_subset: DO FlyBase slim
in_subset: NCIthesaurus
imported from: doid.owl

hypervitaminosis D
type: Class
subclass of: overnutrition
database_cross_reference: UMLS_CUI:C1442839
definition: An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D.
database_cross_reference: SNOMEDCT_US_2020_03_01:190969000
database_cross_reference: ICD10CM:E67.3
id: DOID:9971
database_cross_reference: ICD9CM:278.4
has_obo_namespace: disease_ontology
imported from: doid.owl

substance dependence
type: Class
subclass of: substance-related disorder
id: DOID:9973
database_cross_reference: NCI:C35458
database_cross_reference: UMLS_CUI:C0439857
has_obo_namespace: disease_ontology
definition: A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.
database_cross_reference: SNOMEDCT_US_2020_03_01:255338002
in_subset: NCIthesaurus
imported from: doid.owl

drug dependence
type: Class
subclass of: substance dependence
definition: A substance dependence that involves the continued use of drugs despite problems related to use of the substance.
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0029792
database_cross_reference: SNOMEDCT_US_2020_03_01:191860009
id: DOID:9974
database_cross_reference: ICD9CM:304.60
imported from: doid.owl

cocaine dependence
type: Class
subclass of: drug dependence
database_cross_reference: ICD9CM:304.2
database_cross_reference: NCI:C34492
has_obo_namespace: disease_ontology
database_cross_reference: UMLS_CUI:C0600427
id: DOID:9975
definition: A drug dependence that is a psychological dependency on the regular use of cocaine.
database_cross_reference: SNOMEDCT_US_2020_03_01:286934009
database_cross_reference: ICD10CM:F14.2
database_cross_reference: MESH:D019970
in_subset: NCIthesaurus
imported from: doid.owl

heroin dependence
type: Class
subclass of: opiate dependence
definition: An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
id: DOID:9976
database_cross_reference: NCI:C34694
database_cross_reference: UMLS_CUI:C0019337
has_obo_namespace: disease_ontology
database_cross_reference: SNOMEDCT_US_2020_03_01:191817000
database_cross_reference: MESH:D006556
in_subset: NCIthesaurus
imported from: doid.owl

hallucinogen dependence
type: Class
subclass of: drug dependence
database_cross_reference: SNOMEDCT_US_2020_03_01:191847003
definition: A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance.
has_obo_namespace: disease_ontology
database_cross_reference: ICD10CM:F16.2
database_cross_reference: UMLS_CUI:C0018528
database_cross_reference: NCI:C34657
database_cross_reference: ICD9CM:304.5
id: DOID:9977
in_subset: NCIthesaurus
imported from: doid.owl

eosinophilia-myalgia syndrome
type: Class
subclass of: hypereosinophilic syndrome
database_cross_reference: UMLS_CUI:C0085179
database_cross_reference: SNOMEDCT_US_2020_03_01:95416007
has_exact_synonym: Eosinophilia myalgia syndrome
has_obo_namespace: disease_ontology
database_cross_reference: GARD:6345
id: DOID:998
database_cross_reference: ICD9CM:710.5
database_cross_reference: MESH:D016603
imported from: doid.owl

tertiary neurosyphilis
type: Class
subclass of: spinal cord disease
subclass of: tertiary syphilis
subclass of: brain disease
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D009494
database_cross_reference: NCI:C84935
definition: A tertiary syphilis that results in infection located in brain or located in spinal cord.
database_cross_reference: SNOMEDCT_US_2020_03_01:154384001
database_cross_reference: UMLS_CUI:C0027927
database_cross_reference: ICD9CM:094
id: DOID:9988
database_cross_reference: ICD10CM:A52.3
has_exact_synonym: late neurosyphilis
in_subset: NCIthesaurus
in_subset: gram-negative bacterial infectious disease
in_subset: sexually transmitted infectious disease
imported from: doid.owl

hypereosinophilic syndrome
type: Class
subclass of: leukocyte disease
id: DOID:999
definition: A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs.
has_exact_synonym: Eosinophilic leukocytosis
has_obo_namespace: disease_ontology
database_cross_reference: ICD9CM:288.3
database_cross_reference: MESH:D004802
database_cross_reference: ORDO:168956
database_cross_reference: UMLS_CUI:C0014457
database_cross_reference: ICD10CM:D72.1
database_cross_reference: SNOMEDCT_US_2020_03_01:418928000
database_cross_reference: GARD:2804
has_exact_synonym: eosinophilia
imported from: doid.owl

hypoglycemia
type: Class
subclass of: glucose metabolism disease
id: DOID:9993
database_cross_reference: ICD10CM:E16.2
database_cross_reference: NCI:C3126
database_cross_reference: ICD9CM:251.2
database_cross_reference: SNOMEDCT_US_2020_03_01:154691006
database_cross_reference: UMLS_CUI:C0020615
definition: A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.
has_obo_namespace: disease_ontology
database_cross_reference: MESH:D007003
has_exact_synonym: Hypoglycaemia
in_subset: NCIthesaurus
imported from: doid.owl