imported from
definition
The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
The official OBI definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
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.
A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably.
label
A disease that involving errors in metabolic processes of building or degradation of molecules.
metabolic disease
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.
Chikungunya fever
An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
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.
HGE
human granulocytic ehrlichiosis
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.
Ehrlichiosis chafeensis
An acquired metabolic disease that is characterized by abnormal mineral metabolism.
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.
Rickettsia africae spotted fever
south african tick-bite fever
Rickettsia heilongjiangensis spotted fever
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.
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.
Rickettsia japonica spotted fever
oriental spotted fever
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.
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.
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.
A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.
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.
infectious disease
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.
California virus encephalitis
Neuroinvasive California encephalitis virus infection
California Encephalitis
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.
Xref MGI. MESH:C537250 added from NeuroDevNet [WAK].
haemophagocytic syndrome
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.
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.
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.
Steroid-modified tinea infection
piedra
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.
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.
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.
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.
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.
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.
chronic adenoiditis
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.
Singapore ear
An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
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.
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.
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).
A pulmonary fibrosis that is characterized by scarring of the lung.
FIBROCYSTIC PULMONARY DYSPLASIA
IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
cryptogenic fibrosing alveolitis
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.
BOOP
Cryptogenic organising pneumonitis
Cryptogenic organizing pneumonitis
bronchiolitis obliterans organising pneumonia
bronchiolitis obliterans organizing pneumonia
cryptogenic organising pneumonia
idiopathic bronchiolitis obliterans with organising pneumonia
idiopathic bronchiolitis obliterans with organizing pneumonia
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.
pulmonary anthrax
respiratory anthrax
wool-sorters' disease
woolsorters' disease
A respiratory system disease which involves the lower respiratory tract.
autoimmune polyendocrine syndrome type 1
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.
Autoimmune Polyglandular Syndrome I
Whitaker syndrome
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
autoimmune polyendocrine syndrome type 2
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.
Schmidt syndrome
A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
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.
Central European encephalitis
Far Eastern TBE
Russian spring-summer encephalitis
Siberian tick-borne encephalitis
Taiga encephalitis
Western European tick-borne encephalitis
west-Siberian encephalitis
A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
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.
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.
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.
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.
Eaton-Lambert syndrome
LEMS
Lambert-Eaton syndrome
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.
Naegleria fowleri infection
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.
Acanthamoeba granulomatous encephalitis
Acanthamoeba encephalitis
Granulomatous Amebic Encephalitis due to Acanthamoeba
granulomatous amoebic encephalitis
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.
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.
A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.
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.
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.
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.
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.
A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes.
A hypothyroidism that is present at birth.
Xref MGI. OMIM mapping confirmed by DO. [SN].
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.
LEVY-HOLLISTER SYNDROME
lacrimoauriculodentodigital syndrome
A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.
A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.
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.
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.
opportunistic bacterial infectious disease
A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
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.
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.
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.
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.
Oroya fever
Carrion disease
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.
adenomatous polyposis of the colon
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.
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.
nonepidermolytic palmoplantar keratoderma
A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.
Thost-Unna Syndrome
Unna-Thost Syndrome
diffuse nonepidermolytic palmomplantar keratoderma
tylosis
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.
BENIGN CHRONIC PEMPHIGUS
Pemphigus, Benign Familial
A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
MEN2A
Sipple syndrome
multiple endocrine neoplasia II
arrhythmogenic right ventricular cardiomyopathy
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.
ARVC
ARVC cardiomyopathy
ARVD
arrhythmogenic right ventricular dysplasia
arrhythmogenic right ventricular dysplasia/cardiomyopathy
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.
A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.
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.
MUL
Mulibrey growth disorder
Muscle-Liver-Brain-Eye Nanism
PERICARDIAL CONSTRICTION AND GROWTH FAILURE
Perheentupa Syndrome
A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.
ANTOPOL DISEASE
PSEUDOGLYCOGENOSIS II
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.
Xref MGI. OMIM mapping confirmed by DO. [LS].
A syndrome characterized by a combination of hearing loss and visual impairment.
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.
Sulfatidosis, Juvenile, Austin Type
multiple sulfatase deficiency disease
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.
infantile phytanic acid storage disease
X-linked dominant hypophosphatemic rickets
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.
Hypophosphatemia, Vitamin D-Resistant Rickets
Vitamin D-Resistant Rickets, X-Linked
X-linked hypophosphatemia
hypophosphatemic rickets X-linked dominant
A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
white sponge nevus
white sponge nevus of Cannon
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.
Jackson-Lawler Type Pachyonychia Congenita
Jadassohn-Lewandowsky Syndrome
PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
Pachyonychia Congenita Type 1
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).
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
Bangungut
Brugada type idiopathic ventricular fibrillation
Dream disease
Pokkuri death syndrome
SUNDS
sudden unexplained nocturnal death syndrome
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.
Mevalonate Kinase Deficiency
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.
A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
periventricular heterotopia
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.
Bairnsdale ulcer
Daintree ulcer
Mossman ulcer
Searl ulcer
Searle's ulcer
A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
DEL CASTILLO SYNDROME
Germinal Cell Aplasia
A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.
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.
4p deletion syndrome
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.
PITT SYNDROME
Pitt-Rogers-Danks Syndrome
chromosome 4p16.3 deletion syndrome
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.
aspartylglucosaminidase deficiency
aspartylglycosaminuria
glycosylasparaginase deficiency
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.
trapezoidocephaly-synostosis syndrome
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.
Acampomelic Campomelic Dysplasia
N-laurylsphingosine deacylase deficiency
Farber disease
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.
acid ceramidase deficiency
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.
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.
Erythrokeratodermia Figurata Variabilis
Greither Disease
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.
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.
A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
FCS SYNDROME
Faciocutaneoskeletal Syndrome
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.
Leprechaunism
A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
Carney Complex, Type 2
Carney Syndrome
Carney complex variant
LAMB Syndrome
NAME Syndrome
Carney Complex, Type 1
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.
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.
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.
A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
GEMSS syndrome
Marchesani-Weill Syndrome
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
congenital mesodermal dystrophy
3-methylglutaconicaciduria type 2
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.
3-methylglutaconicaciduria type II
MGA Type 2
MGA type II
Liddle's syndrome
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.
Pseudoaldosteronism
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.
Rat-Flea Typhus
Rickettsia felis spotted fever
Shop typhus
Urban Typhus of Malaya
cat flea rickettsiosis
fleaborne typhus
murine typhus
toulon typhus
urban typhus
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.
Sennetsu ehrlichiosis
A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders.
Rash
exanthema
Roseola Infantum
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.
Sixth Disease
Adult T-cell leukemia/lymphoma
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.
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.
MODY
Mason-type diabetes
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.
AMISH BRITTLE HAIR BRAIN SYNDROME
BIDS syndrome
HAIR-BRAIN SYNDROME
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.
SMA4
SPINAL MUSCULAR ATROPHY, ADULT FORM
SPINAL MUSCULAR ATROPHY, TYPE IV
spinal muscular atrophy 4
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.
congenital essential nyctalopia
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.
FEVR
familial exudative vitreoretinopathy
CATARACT, POSTERIOR POLAR
A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule.
A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.
hereditary motor and sensory neuropathy type 1
A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
DEJERINE-SOTTAS NEUROPATHY
DEJERINE-SOTTAS SYNDROME
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.
A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
heterotaxia
situs ambiguus
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
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.
P450scc DEFICIENCY
A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance.
THYROID CARCINOMA, FAMILIAL MEDULLARY
A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
familial dysautonomia, type II
hereditary sensory and autonomic neuropathy
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.
JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY
X-linked sideroblastic anemia with ataxia
A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.
Anemia sideroblastic and spinocerebellar ataxia
X-linked sideroblastic anaemia and ataxia
X-linked sideroblastic anaemia with ataxia
X-linked sideroblastic anemia and ataxia
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.
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.
ULLRICH DISEASE
Ullrich scleroatonic muscular dystrophy
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.
HARD syndrome
cerebroocular dysplasia-muscular dystrophy syndrome
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.
A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.
Lennox syndrome
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.
nonsyndromic hearing loss
nonsyndromic hereditary hearing loss
A nonsyndromic deafness characterized by an X-linked inheritance mode.
X-linked deafness
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.
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.
Jarcho-Levin syndrome
spondylocostal dysostosis, autosomal recessive 3
spondylothoracic dysostosis
spondylothoracic dysplasia
A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
Harper's syndrome
Virchow-Seckel dwarfism
bird-headed dwarfism
microcephalic primordial dwarfism
A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.
cone-rod retinal dystrophy
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.
An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
L-2-HYDROXYGLUTARIC ACIDEMIA
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.
A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.
Levin syndrome
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.
A dysostosis characterized by short fingers and toes.
An impulse control disorder that involves the uncontrollable plucking of ones hair.
CMD due to dystroglycanopathy
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.
An intestinal disease characterized by inflammation located in all parts of digestive tract.
A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
A tooth disease characterized by failure to develop on or more missing teeth.
familial tooth agenesis
hypodontia
oligodontia
selective tooth agenesis
A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
Jeune syndrome
short-rib thoracic dysplasia with or without polydactyly
thoracic pelvic phalangeal dystrophy
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.
Beef tapeworm infection
Infection by Taeniarhynchus saginatus
Taenia saginata infectious disease
Katayama fever
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.
Schistosoma japonicum infection
Schistosoma mansoni infectious disease
schistosomiasis japonica
A tuberculosis that occurs at body sites other than the lung.
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.
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).
albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
ABCDS
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.
acro-dermato-ungual-lacrimal-tooth syndrome
AAAS
Allgrove Syndrome
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.
Achalasia-Addisonianism-Alacrimia syndrome
Acheiropodia
An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.
Horn-Kolb Syndrome
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.
A keratosis that has_material_basis_in mutations in the ATP2A2 gene.
Acrokeratosis verruciformis of Hopf
Hopf disease
An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
A respiratory system cancer that is located_in the paranasal sinuses.
Epidermoid carcinoma of the paranasal sinus
Mucoepidermoid carcinoma of Accessory sinus
adenoid cystic carcinoma of Accessory sinus
adenoid cystic carcinoma of paranasal sinus
paranasal sinus adenocarcinoma
paranasal sinus adenoid cystic carcinoma
paranasal sinus mucoepidermoid carcinoma
paranasal sinus squamous cell carcinoma
squamous cell carcinoma of paranasal sinus
An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm.
An organ system benign neoplasm that is located_in reproductive system organs.
A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas.
An organ system benign neoplasm located_in gastrointestinal tract organs.
A hepatobiliary benign neoplasm located_in the biliary tract.
extrahepatic bile duct neoplasm
neoplasm of extrahepatic bile ducts
tumor of the extrahepatic bile duct
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.
Cree encephalitis
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.
Forsius-Eriksson syndrome
FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
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.
AHDS
ALLAN-HERNDON SYNDROME
A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.
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.
An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.
PCA
familial primary localized cutaneous amyloidosis
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.
generalized arterial calcification of infancy
idiopathic infantile arterial calcification
infantile arteriosclerosis
A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
A muscle tissue disease characterized by congenital joint contractures of hand and feet.
Arthrogryposis Multiplex Congenita
Freeman-Sheldon syndrome
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.
ARTS
Lethal ataxia with deafness and optic atrophy
MRXSARTS
MRXS18
fatal X-linked ataxia with deafness and loss of vision
syndromic X-linked mental retardation 18
syndromic X-linked mental retardation Arts type
An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
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.
familial hypotransferrinemia
ATFB
An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
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.
AVCD
AVSD
ECD
atrioventricular canal defect
endocardial cushion defect
A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.
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.
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
BLC-PMG
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.
BLCPMG
Baraitser-Brett-Piesowicz syndrome
Baraitser-Reardon syndrome
PTORCH1
band-like calcification with simplified gyration and polymicrogyria
bilateral band-like calcification with polymicrogyria
microcephaly-intracranial calcification-intellectual disability syndrome
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.
Bannayan-Zonana syndrome
Riley-Smith syndrome
Ruvalcaba-Myhre-Smith syndrome
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.
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
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.
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.
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.
Best disease
Best macular dystrophy
juvenile-onset vitelliform macular dystrophy
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.
autosomal recessive bestrophinopathy
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.
benign congenital muscular dystrophy
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.
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.
alcohol-related neurodevelopmental disorder
A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.
ARND
static encephalopathy
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.
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.
hypotonic cerebral palsy
A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
CBA
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.
Birk-Barel mental retardation dysmorphism syndrome
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.
A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
ARTHROCUTANEOUVEAL GRANULOMATOSIS
BLAUS
Jabs syndrome
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.
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.
Borjeson syndrome
BFLS
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.
BORJ
MRXSBFL
intellectual deficiency-epilepsy-endocrine disorders syndrome
mental retardation, epilepsy, and endocrine disorder
syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
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.
BWCNS
Bowen Hutterite syndrome
Bowen-Conradi Hutterite syndrome
A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
Small cell carcinoma - intermediate cell
Small cell carcinoma, intermediate cell
intermediate cell small cell carcinoma
A cancer that is classified based on the organ it starts in.
A cancer that is classified by the type of cell from which it is derived.
A large intestine cancer that is located_in the terminal part of the large intestine.
A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
brachyrachia
A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
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.
BRSS
BSS
CYLD cutaneous syndrome
SBS
Spiegler-Brooke Syndrome
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.
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.
A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
MESH:D009202 added from NeuroDevNet [WAK].
Cardiomyopathies
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.
electro-clinical syndrome
neonatal period electroclinical syndrome
An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
An electroclinical syndrome with onset in childhood between one and 12 years of age.
adolescence-adult electroclinical syndrome
An electroclinical syndrome with onset in adolescence and adulthood.
variable age at onset electroclinical syndrome
An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration.
A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.
early infantile epileptic encephalopathy
A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
Early Infantile Epileptic Encephalopathy with Burst-Suppression
3-Methylcrotonyl-CoA carboxylase deficiency
BMCC deficiency
3-Methylcrotonylglycinuria
3MCC deficiency
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.
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.
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.
CEREBRAL CREATINE DEFICIENCY SYNDROME 3
arginine:glycine amidinotransferase deficiency
An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
HHH syndrome
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
Chanarin-Dorfman syndrome
A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
COENZYME Q10 DEFICIENCY, PRIMARY
A vitamin metabolic disorder that results from low blood levels of vitamin B12.
cobalamin deficiency
hypocobalaminemia
A monogenic disease that has_material_basis_in muations in genes on the X chromosome.
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.
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.
A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
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.
alcoholism
A substance dependence that is characterized by a physical dependence on nicotine.
tobacco use disorder
A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
NK-T cell lymphoma
mature T-cell and natural killer cell lymphoma
A non-Hodgkin lymphoma involving aberrant T-cells.
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.
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.
A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue.
marginal zone lymphoma
A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
A hereditary ataxia that is characterized by ataxia originating in the cerebellum.
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.
deafness-dystonia-optic neuronopathy syndrome
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.
Deafness Dystonia Optic Atrophy Syndrome
Deafness Dystonia Optic Neuronopathy Syndrome
Dystonia Deafness Syndrome
Jensen syndrome
Mohr-Tranebjaerg Syndrome
Mohr-Tranebjaerg syndrome
deafness dystonia syndrome
An acquired metabolic disease that characterized by excessive production of acid.
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.
proximal myotonic myopathy
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.
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
Arthrogryposis-renal dysfunction-cholestasis
A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders.
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.
Levine-Critchley syndrome
choreo-acanthocytosis
A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.
NSX
A liver disease that is characterized by the presence of multiple cysts located_in the liver.
congenital cystic liver disease
congenital hepatic cyst
fibrocystic liver disease
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.
phaeochromocytoma
A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
chemodectoma
glomus body tumor
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.
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.
non-syndromic X-linked intellectual disability
A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
non-specific X-linked mental retardation
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.
AV block
A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
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.
SA node
sinuatrial node
A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle.
RH. tricuspid valve disease
Rheumatic disease of tricuspid valve
Rheumatic tricuspid valve disease
Tricuspid disease
disease of tricuspid valve
rheumatic tricuspid valve disease
A vascular disease that is located_in an artery.
A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
A dystonia that is localized to a specific part of the body.
A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
Synucleinopathies
alpha Synucleinopathies
An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
CNS PNET
CPNET
brain medulloblastoma
infratentorial primitive neuroectodermal tumor
localized primitive neuroectodermal tumor
A salivary gland cancer that has_material_basis_in epithelial cells.
A breast carcinoma that derives_from breast lobules (milk glands).
A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance.
A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
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.
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.
Quincke edema
autoimmune disease of central nervous system
An autoimmune hypersensitivity disease located_in the central nervous system.
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.
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.
BLS, TYPE I
BLSI
HLA CLASS I DEFICIENCY
bare lymphocyte syndrome type I
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.
combined immunodeficiency with hypereosinophilia
X-linked severe combined immunodeficiency
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.
SCID-X1
XSCID
gamma chain deficiency
thymic epithelial hypoplasia
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.
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.
De Vaal disease
aleukocytosis
LIG4 Syndrome
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.
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.
HIGMX-1
X-linked hyper-IgM syndrome
IgA deficiency
A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.
gamma-A-globulin deficiency
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.
thymoma with hypogammaglobulinemia
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.
autoimmune disease of gastrointestinal tract
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.
autoimmune disease of musculoskeletal system
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.
autoimmune disease of peripheral nervous system
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.
A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
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.
A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
autoimmune disease of skin and connective tissue
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.
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.
pervasive development disorder
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.
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.
PDD
A disease of mental health that involves the impairment in normal sexual functioning.
A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects.
A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
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.
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.
autoimmune disease of cardiovascular system
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.
An immune system disease that has_material_basis_in abnormal immune responses.
A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
lymphoid cancer
A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells.
cutaneous T-cell lymphoma
familial juvenile hyperuricemic nephropathy
A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
pyridoxine-responsive sideroblastic anemia
A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance.
A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
Pearson Marrow-Pancreas Syndrome
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.
A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
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.
estrogen-receptor positive breast cancer
A breast cancer that is characterized by the presence of estrogen receptors.
A thoracic benign neoplasm that is characterized by lack of malignancy.
An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
A benign neoplasm that is classified by the organ system from which it is arising from.
female reproductive organ benign neoplasm
A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system.
A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system.
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.
A nervous system benign neoplasm that is characterized by lack of malignancy.
An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
A connective tissue benign neoplasm that is located_in bone.
A female reproductive organ benign neoplasm that is located_in the uterus.
A nervous system benign neoplasm that is located_in a sensory organ.
An organ system benign neoplam that is located_in the thoracic cavity.
A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas.
An organ system benign neoplasm that is located_in the muscular and skeletal organs.
An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
skeletal system cancer
A cell type benign neoplasm that has_material_basis_in glial cells.
central nervous system primitive neuroectodermal neoplasm
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.
A brain cancer that has_material_basis_in glial cells.
lower grade glioma
A female reproductive organ benign neoplasm that is located_in the vulva.
A female reproductive organ benign neoplasm that is located_in the ovary.
An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
A nervous system cancer that is located in the sensory system.
A disease of anatomical entity that is located_in the thoracic cavity.
A gastrointestinal system cancer that is located_in the pharynx.
pharyngeal cancer
pharyngeal neoplasm
pharynx neoplasm
An organ system benign neoplasm located_in the integumentary system organs.
An organ system cancer that is located_in the skin, hair and nails.
A musculoskeletal system benign neoplasm that is located_in connective tissue.
neoplasm of soft tissue
neoplasm of soft tissues
soft tissue benign neoplasm
tumor of the soft tissue
A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
Seligmann's disease
A heavy chain disease that results from an overproduction of gamma antibody (IgG).
Franklin's disease
A heavy chain disease that results from an overproduction of mu antibody (IgM).
An agnosia that is a deficiency in understanding, processing, or describing emotions.
An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
receptive amusia
An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
An agnosia that is a loss of the ability to distinguish visual shapes.
An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.
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.
An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
An agnosia that is a loss of the ability to distinguish the fingers on the hand.
An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
An agnosia that is a loss of the ability to perceive and process pain.
analgesia
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.
An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
somatosensory agnosia
An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
An agnosia that is a loss of the ability to visually recognize objects.
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.
An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
organic acid metabolism disorder
organic aciduria
A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood.
survival motor neuron spinal muscular atrophy
spinal muscular atrophies of childhood
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.
Kennedy disease
SBMA
Spinobulbar Muscular Atrophy
X-Linked Bulbo-Spinal Atrophy
X-linked Spinal and Bulbar Muscular Atrophy
spinal bulbar muscular atrophy
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.
DRPLA
Haw River Syndrome
Naito-Oyanagi disease
A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
body dysmorphia
dysmorphic syndrome
dysmorphophobia
A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
A histidine metabolism disease characterized by a deficiency of the enzyme histidase.
histidinuria
An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.
BFIC
BFIE
benign familial infantile convulsion
benign familial infantile seizures
An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.
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.
succinic semialdehyde dehydrogenase deficiency
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.
4-hydroxybutyric aciduria
SSADH
gamma-hydroxybutyric aciduria
gamma-amino butyric acid metabolism disorder
An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
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.
An inflammatory bowel disease that involves inflammation located_in colon.
An urticaria induced by external physical influences.
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.
A-fib
A gastrointestinal system disease that is located_in the gallbladder.
autosomal dominant non-syndromic intellectual disability
A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.
autosomal dominant mental retardation
autosomal dominant non-syndromic mental retardation
syndromic X-linked intellectual disability
A syndromic intellectual characterized by an X-linked inheritance pattern.
syndromic X-linked mental retardation
A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
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.
A corneal dystrophy that affects the corneal stroma.
A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.
endothelial dystrophy
respiratory allergy
An allergic disease that is located_in the respiratory tract.
airway allergy
gastrointestinal allergy
An allergic disease that is located_in the gastrointestinal tract.
fruit allergy
A food allergy triggered by a plant fruit product.
spinal disease
A bone disease that is located_in the spine.
abdominal obesity-metabolic syndrome
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.
autosomal recessive congenital ichthyosis
ARCI
An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
lamellar ichthyosis
non bullous congenital ichthyosiform erythroderma
anencephaly
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.
A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system.
HLD
hypotonia-cystinuria syndrome
cystinuria with mitochondrial disease
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.
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.
Salmonella infection
thrombosis
A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.
A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product.
Fabaceae allergy
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells.
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.
myeloma
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.
thiamine deficiency disease
A nutritional deficiency disease that is characterized by low levels of thiamine.
mitochondrial DNA depletion syndrome
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.
mtDNA depletion syndrome
A musculoskeletal system disease that affects the muscles.
A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
skeletal disease
A bone disease that results_in formation or resorption abnormalities located_in bone.
A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
A bone structure disease that results_in change or damage of structure located_in bone.
A bone disease that results_in an interruption of blood supply located_in bone.
A X-linked monogenic disease that has_material_basis_in dominant inheritance.
A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
A bone remodeling disease that results in an abnormal decrease of bone density or mass.
A X-linked monogenic disease that has_material_basis_in recessive inheritance.
A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.
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.
Bakwin-Krida syndrome
Pyle's disease
Pyle-Cohn syndrome
An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.
An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.
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.
van Buchem disease
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.
An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.
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.
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.
A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
PSEUDOACHONDROPLASIA
SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
pseudoachondroplastic dysplasia
An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb dwarfism.
A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.
A physical disorder characterized by incomplete closure of the neural tube.
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.
Alper's syndrome
Alpers' disease or gray-matter degeneration
Alpers syndrome
Alpers progressive infantile poliodystrophy
Alpers disease
progressive sclerosing poliodystrophy
mitochondrial DNA depletion syndrome 7
OHAHA SYNDROME
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.
infantile onset spinocerebellar ataxia
lysosomal and lipase deficiency
A lipid storage disease characterized by lysosomal and lipase deficiency.
peripheral nervous system benign neoplasm
A central nervous system benign neoplasm the is located_in the peripheral nervous system.
autonomic nervous system benign neoplasm
A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system.
polycystic kidney disease
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.
hepatobiliary system cancer
A gastrointestinal system cancer that is located_in the hepatobiliary system.
malignant adenoma
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.
epididymis disease
A male reproductive system disease that is located_in the epididymis.
peroxisomal biogenesis disorder
A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes.
An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
early infantile epileptic encephalopathy 6
mucolipidosis
A lipid storage disease that is characterized by increased storage of carbohydrates and lipids.
thyroid gland adenocarcinoma
A thyroid gland carcinoma that derives_from epithelial cells of glandular origin.
differentiated thyroid gland carcinoma
A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation.
hyper IgM syndrome
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.
immunodeficiency with hyper-IgM
hyper IgE syndrome
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.
hyper immunoglobulin E syndrome
Coronavirus infectious disease
A viral infectious disease that has_material_basis_in Coronavirus.
germ cell benign neoplasm
A benign neoplasm that derives_from germ cells.
A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements.
nephroma
A kidney benign neoplasm that is located_in the kidney cortex.
kidney cortex disease
A kidney disease that is located_in the kidney cortex.
auditory system benign neoplasm
A sensory system benign neoplasm that is located in the auditory system.
B-lymphoblastic leukemia/lymphoma
A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.
precursor B lymphoblastic lymphoma/leukemia
B-cell acute lymphoblastic leukemia
An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood.
A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
RASopathy
A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
RAS/mitogen-activated protein kinase syndrome
acute asthma
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.
low-grade glioma
A malignant glioma that originate from two types of glial cells, astrocytes and oligodendrocytes.
pediatric low-grade glioma
A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.
A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.
congenital idiopathic hypogonadotropic hypogonadism
isolated congenital gonadotropin deficiency
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.
Batten disease
CLN3
juvenile neuronal ceroid lipofuscinosis
neurodegeneration with brain iron accumulation
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.
NBIA
congenital muscular dystrophy-dystroglycanopathy type A
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.
MDDGA
congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
klissencephaly type 2 with muscular and ocular involvement
A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.
A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature.
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.
A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation.
A primary immunodeficiency disease that involves multiple components of the immune system.
An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites.
bacterial enteritis
High Frequency Hearing Loss
High frequency deafness
Perceptive deafness
Perceptive hearing loss
Perceptive hearing loss or deafness
Sensorineural Deafness
Sensory hearing loss
central hearing loss
high-frequency hearing loss
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.
MEN type I
Wermer syndrome
Wermer's syndrome
An endometrial disease that is characterized by inflammation of the endometrium.
malignant tumour of ampulla of vater
Duodenal cancer
A small intestine cancer that is located_in the beginning section of the small intestine.
cancer of duodenum
duodenal neoplasm
A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
classic migraine
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.
Posterior spinal sclerosis
Tabes dorsalis - neurosyphilis
A female reproductive system disease that is characterized by an infection of the female reproductive organs.
PID
Ciliary muscle paresis
Cycloplegic paralysis of accommodation
Paresis of accommodation
An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image.
FAMM syndrome
familial atypical multiple mole-melanoma
A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule.
nodular melanoma
A uterine disease that is located_in the endometrium.
Subglottic tumor
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.
Hymenolepis infectious disease
dwarf tapeworm infection
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.
DiphylloboInOwlthrium infection
fish tapeworm
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.
Pork tapeworm infection
Tapeworm infection: intestinal taenia solum
Tapeworm infection: pork
intestinal taenia solium infection
neurocysticercosis
tenia solium infectious disease
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.
Infection by Sparganum
Sparganosis
A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull.
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.
African sleeping sickness
African trypanosomiasis
A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.
A skin disease that is characterized by discoloration of the skin.
An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.
A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
conical cornea
A vein disease that is characterized by impaired flow of blood through the veins.
peripheral venous insufficiency
Conjunctival xerosis
A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.
Tear film insufficiency
An intestinal cancer that is located_in the small intestine.
A gastrointestinal system cancer that is located_in the intestine.
malignant intestinal tumors
malignant neoplasm of intestine
An ischemic bone disease that results_in necrosis located_in bone.
Avascular necrosis of bone
aseptic necrosis
bone necrosis
A skin benign neoplasm that derives_from fat cells.
Cutaneous Lipoma
Lipoma of skin
cutaneous lipomatous tumor
lipoma of face
A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.
Lipoma of breast
A breast benign neoplasm that is composed of lipocytes.
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.
MESH:C538250 added from NeuroDevNet [WAK].
Amyopathic dermatomyositis
Polymyositis with skin involvement
dermatopolymyositis
Aortic atherosclerosis
Atherosclerosis of aorta
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.
A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.
Sickle-cell thalassemia with crisis
Sickle-cell thalassemia without crisis
thalassemia Hb-S disease with crisis
thalassemia Hb-S disease without crisis
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.
human ehrlichiosis
A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
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.
Louping ill
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.
A cardiovascular system disease that involves the heart's electrical conduction system.
heart rhythm disease
A male reproductive organ cancer that is located_in the prostate.
NGP - new growth of prostate
hereditary prostate cancer
malignant tumor of the prostate
prostate cancer, familial
prostate neoplasm
prostatic cancer
prostatic neoplasm
tumor of the prostate
Raynaud's disease
Raynaud's syndrome
A parotid disease characterized by the inflammation of one or both parotid glands.
Sialoadenitis
A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
An interstitial lung disease that is caused by the inhalation of dust.
A pneumoconiosis caused by inhalation and retention of asbestos fibers.
Flax-dressers' disease
Stripper's asthma
cotton mill fever
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.
Pneumoconiosis due to silicates
Silica pneumoconiosis
Silicotic fibrosis of lung
silicotuberculosis
Coal workers' lung
Melanoedema
Coal Miner's Pneumoconiosis
Coal workers' pneumoconiosis
black lung
pulmonary siderosis
Cyst of the breast
A breast benign neoplasm that is characterized by a fluid-filled sac.
A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.
lymphoblastic leukaemia
lymphoblastic leukemia
lymphocytic leukaemia
Bouba
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.
frambesia
frambesia tropica
frambosie
polypapilloma tropicum
thymosis
Strabismic amblyopia
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.
Deprivation amblyopia
Bamberger-Marie disease
HPOA - hypertrophic pulmonary osteoarthropathy
Marie Bamberger disease
hypertrophic pulmonary osteoarthropathy
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.
primary pneumonic plague
secondary pneumonic plague
A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
B-cell chronic lymphocytic leukaemia
B-cell chronic lymphocytic leukemia
B-cell chronic lymphoid leukemia
CLL
chronic lymphatic leukaemia
chronic lymphatic leukemia
chronic lymphocytic leukaemia
lymphoplasmacytic leukaemia
lymphoplasmacytic leukemia
A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
Klippel-Feil and Turner syndrome
Klippel-Feil deformity, deafness and facial asymmetry
autosomal dominant Klippel-Feil syndrome
congenital dystrophia brevicollis
congenital synostosis of cervical vertebrae
A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema.
Mooren ulcer
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.
Throat infection - tonsillitis
chronic tonsillitis
Legionella
Legionnaire's disease
A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
Infection by Legionella pneumophilia
Legionella pneumonia
Legionella infection
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.
Acute viral rhinopharyngitis
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.
Nasopharyngitis - acute
Nasopharyngitis, acute
acute Nasopharyngitis
acute coryza
acute nasopharyngitis
acute rhinitis
rhino-sinusitis
A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
chronic nasopharyngitis
Compound dental caries
Dentin caries
Dental caries extending into dentine
Patellar tendonitis
A muscular disease that is located_in the diaphragm.
Congenital atresia of esophagus
Congenital imperforate esophagus
Imperforate esophagus
Oesophageal atresia
A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Hirschsprung disease
aganglionic megacolon
congenital megacolon
macrocolon
pelvirectal achalasia
total intestinal aganglionosis
Congenital atresia of anus
Congenital or infantile occlusion of anus
Imperforate anus
anal atresia
Corticoadrenal insufficiency
Adrenal Cortical Insufficiency
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.
A gastrointestinal system cancer that is located_in the stomach.
gastric cancer
gastric neoplasm
Lymphoma of the stomach
Ca cardia - stomach
malignant neoplasm of cardia of stomach
A central nervous system disease that involves encephalitis which occurs along with meningitis.
Meningoencephalitis
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.
Lowe syndrome
lowe oculocerebrorenal syndrome
oculocerebrorenal syndrome of Lowe
A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
A cerebral degeneration characterized by dysfunction of the white matter of the brain.
A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
MLD
Scholz cerebral sclerosis
arylsulfatase A deficiency
deficiency of cerebroside-sulfatase
sulfatide lipoidosis
HSMN IV
Heredopathia atactica polyneuritiformis
Refsum's disease
HMSN type IV
A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
pericentral pigmentary retinopathy
Diffuse globoInOwlid body sclerosis
GLOBOID CELL LEUKOENCEPHALOPATHY
Galactosylceramide beta-galactosidase deficiency
Krabbe's disease
Krabbe's leukodystrophy
beta galactocerebrosidase deficiency
globoInOwlid cell leukodystrophy
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.
MESH:D000326w added from NeuroDevNet [WAK].
ALD
Bronze Schilder disease
Encephalitis periaxialis concentrica
Encephalitis periaxialis, Schilder's
Siemerling-Creutzfeldt Disease
X-linked adrenoleukodystrophy
diffuse sclerosis
sudanophilic cerebral sclerosis
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.
OMIM mapping submitted by NeuroDevNet. [LS].
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
mental retardation
A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
gestational hypertension
hypertension induced by pregnancy
pre-eclamptic toxaemia
preeclampsia
preeclampsia/eclampsia
pregnancy associated hypertension
pregnancy toxemia
proteinuric hypertension of pregnancy
toxaemia of pregnancy
CMT - Charcot-Marie-Tooth disease
A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
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.
Neutral 1 amino acid transport defect
deficiency of tryptophan oxygenase
neutral amino acid transport defect
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.
chronic motor or vocal tic disorder
Glucose: intolerance
Glucose: malabsorption
Malabsorption of glucose
LM - Lactose malabsorption
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.
acquired short bowel syndrome
short gut syndrome
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.
Blind loop syndrome
Bacterial overgrowth syndrome
Sprue - tropical
Tropical steatorrhea
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.
celiac sprue
coeliac disease
idiopathic steatorrhea
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.
active rickets
vitamin D hydroxylation-deficient rickets
vitamin D-dependent rickets
pancreatic steatorrhoea
Enteropathy, exudative
Exudative enteropathy
Protein-losing enteropathy
An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction.
Allergic urticaria
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
Congenital Fanconi syndrome
De Toni-Fanconi syndrome
Fanconi-de Toni syndrome
Fanconi-de-Toni syndrome
Lignac-Fanconi syndrome
Infantile nephropathic cystinosis
adult Fanconi Anemia
adult Fanconi syndrome
deToni Fanconi syndrome
An eye disease where one or both eyeballs are abnormally small.
microphthalmos
simple microphthalmos
renal tubulo-interstitial disease
A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.
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.
cystine storage disease
A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
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.
Alzheimer disease
Alzheimers dementia
Colonic Lipoma
A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
Wide-angle glaucoma
glaucoma simplex
open angle glaucoma
pigmentary glaucoma
A breast disease characterized by painful infection of the breast tissue.
Inflammatory breast disease
Inflammatory disease of breast
breast inflammation
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.
Infection by Paragonimus
lung fluke disease
lung fluke infection
pulmonary paragonimiasis
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.
chronic simple glaucoma
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.
Infection by Giardia lamblia
beaver feaver
A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
renal failure
A otitis which involves inflammation of the middle ear.
An artery disease characterized by chronic elevated blood pressure in the arteries.
HTN
High blood pressure
hyperpiesia
hypertensive disease
vascular hypertensive disorder
Moschcowitz's syndrome
Idiopathic myocarditis
Isolated (Fiedler's) myocarditis
fiedler myocarditis
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.
Australian tick typhus
North Queensland tick typhus
Rickettsia australis spotted fever
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.
A maxillary sinusitis which lasts for 12 weeks or more.
chronic antritis
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.
Sphenoidal sinusitis
A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
disease due to superfamily Filarioidea
A respiratory system cancer that is located_in the nasal cavity.
malignant neoplasm of nasal cavities
malignant tumor of the nasal cavity
Lymphoma of the nasal cavity
lymphoma of nasal cavity
A duodenum cancer that derives_from epithelial cells of glandular origin.
Duodenal adenocarcinoma
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.
Infection by Dirofilaria
Dirofilaria infectious disease
Neuroinvasive Eastern equine encephalitis virus infection
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.
EEE
Australian X disease
Australian encephalitis
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.
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.
WEE
Japanese B encephalitis
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.
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.
Neuroinvasive St. Louis encephalitis virus infection
Complete trisomy 18 syndrome
E3 Trisomy
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.
trisomy 18
A mouth disease located_in the salivary gland.
Salivary gland disease
Non-neoplastic Salivary gland disease
Incomitant dissociation
Paralytic strabismus
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.
Age Related Maculopathies
Age Related Maculopathy
Senile macular degeneration
Senile macular retinal degeneration
age-related macular degeneration
Exudative senile macular degeneration of retina
Neovascular age-related macular degeneration
Wet senile macular retinal degeneration
Senile macular degeneration, wet
A spina bifida that is characterized by herniation of the meninges between the vertebrae.
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.
Vesicular stomatitis and exanthem
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.
Bamble disease
Bornholm disease
Epidemic pleurisy
Epidemic, myositis
devil's grip
epidemic myalgia
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.
Vesicular pharyngitis
spinal dysraphism
A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
familial hypospadias
A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
Microcephalus
microencephaly
A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
hydrocephalus, X-linked
hydrocephalus, nonsyndromic, autosomal recessive
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.
Amnestic syndrome
Korsakoff's psychosis or syndrome
amnesia
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.
Korsakoff Syndrome
Korsakoff's psychosis
Korsakoff's syndrome
Korsakov psychosis
Korsakov's psychosis
A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex.
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.
Hb SC disease
Hb-S/Hb-C disease
Hb-SS disease without crisis
Hemoglobin S disease without crisis
Sickle-cell/Hb-C disease without crisis
drepanocytosis
haemoglobin SC disease
hemoglobin SC disease
sickle cell anaemia
A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
A personality disorder that is characterized by a pervasive psychological dependence on other people.
obsessive-compulsive personality disorder
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.
Anankastic personality disorder
OCPD
A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities.
Dissociative identity disorder
A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated).
dissociative disease
dissociative reaction
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.
A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
Asocial personality
Dissocial personality disorder
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.
Psychopath.personality
Psychopathic personality
Psychopathic personality disorder
sociopathic personality
attention deficit hyperactivity disorder
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.
ADHD
attention deficit disorder
hyperkinetic disorder
brain aneurysm
A kidney disease that is characterized by an inflammation of the kidneys.
Infection by Strongyloides
A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis.
disseminated strongyloidiasis
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.
Infantile spastic cerebral palsy
Little's disease
cerebral spastic infantile paralysis
Diplegic infantile cerebral palsy
Littles disease
infantile diplegic cerebral palsy
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.
Congenital hemiplegia
Hemiplegic cerebral palsy
Hemiplegic infantile cerebral palsy
hemiplegic cerebral palsy
spastic hemiplegic cerebral palsy
A central nervous system disease that is characterized by the complete paralysis of half of the body.
Infantile hemiplegia
Postnatal infantile hemiplegia
A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking.
quadriplegic infantile cerebral palsy
spastic quadriplegic cerebral palsy
tetraplegic infantile cerebral palsy
Salpingitis/oophoritis
Tubo-ovarian inflammatory disease
An ovarian disease that is characterized by inflammation of the ovary.
membranous nephropathy
A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
Hereditary Nephritis
Alpha thalassaemia
Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
alpha-Thalassemia
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.
Weston-Hurst syndrome
acute hemorrhagic encephalomyelitis
AHL
acute haemorrhagic leucoencephalitis of Weston Hurst
acute necrotizing hemorrhagic leukoencephalitis
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.
A female reproductive system disease that is located_in the ovary.
Corneal oedema
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.
psychogenic amnesia
A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization.
Neurotic derealization
A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia.
Felty syndrome
Rheumatoid arthritis with splenoadenomegaly and leukopenia
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.
Neonatal aspiration of meconium
meconium aspiration
An urinary system cancer that results_in malignant growth located_in the urinary bladder.
bladder cancer
tumor of the bladder
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.
Pasteurella infection
Pasteurella infectious disease
A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix.
A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of esophagus
cancer of oesophagus
carcinoma OF ESOPHAGUS
carcinoma of esophagus
carcinoma of oesophagus
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.
Bang's disease
Gibraltar fever
Malta fever
Maltese fever
Mediterranean fever
undulant fever
A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
Infestation by fly larvae
Infestation by maggots
Maggot infestation
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.
Asphyxia - birth
Asphyxia, in liveborn infant
Birth asphyxia
postnatal asphyxia
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.
Infection due to Coxiella burnetii
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.
His-Werner disease
Quintan fever
Wolhynian fever
shin bone fever
tibialgic fever
Bartonella infectious disease
A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
Rochalimaea infection
bartonelliasis
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.
Spotted fever group rickettsial disease
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.
Pigmentary retinal dystrophy
retinitis punctata albescens
A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
Guinon's disease
Psychogenic tics
Tourette syndrome
motor-verbal tic disorder
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.
Autoimmune purpura
Henoch-Sch@nlein purpura
Henoch-Scholein purpura
Henoch-Schonlein Purpura
Purpura, autoimmune
Allergic purpura
Henoch-Sch?nlein purpura
A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
connective and soft tissue neoplasm
tumor of soft tissue and skeleton
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.
prickly heat
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.
Hypohidrosis
Oligohidrosis
A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin.
Adiaphoresis
absence of sweating
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).
WC - Whooping cough
bordetella infection
whooping cough
A lung disease characterized by inadequate gas exchange by the respiratory system.
acute and chronic respiratory failure
acute respiratory Failure
acute-on-chronic respiratory failure
chronic respiratory failure
respiratory insufficiency/failure
Band-shaped keratopathy
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.
Condyloma acuminatum
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.
Anogenital Human papilloma Virus Infectious Disease
Anogenital warts
Genital warts
genital wart virus infectious disease
venereal wart
A otitis media which involves transudation of fluid in the middle ear without pus formation.
Nonsuppurative otitis media
A synostosis that results_in the fusion of two or more digits.
chromosome 2q35 duplication syndrome
symphalangism
symphalangy
webbing of digits
22q11.2 deletion syndrome
DiGeorge sequence
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.
DiGeorge's syndrome
Pharyngeal pouch syndrome
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.
Bleeding oesophageal varices
Bleeding esophageal varices
esophageal varices
esophageal varices in disease classified elsewhere, with bleeding
esophageal varices with bleeding
esophageal varices with bleeding in disease EC
esophageal varices without bleeding
esophageal varices without mention of bleeding
A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells.
T cell immunodeficiency
T lymphocyte deficiency
T lymphocyte immunodeficiency
An endocrine system disease that is located_in the parathyroid gland.
disease of parathyroid glands
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.
A substance abuse that involves the recurring use of opioid drugs despite negative consequences.
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.
Apollo disease
Epidemic hemorrhagic conjunctivitis
viral conjunctivitis
acute inflammation of orbit
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.
A intestinal cancer that is located_in the appendix.
cancer of the appendix
malignant neoplasm of appendix vermiformis
malignant tumor of appendix
malignant tumor of the appendix
appendix neoplasm
neoplasm of appendix
anaemia neonatal
anemia neonatal
neonatal anaemia
Diffuse or disseminated intravascular coagulation
DIC
Defibrination syndrome
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.
deficiency of vitamin K
vitamin K deficiency
vitamin K deficiency hemorrhagic disease
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.
Classical typhus
Endemic Typhus fever
Epidemic (louse-borne) typhus
Epidemic louse-borne typhus fever due to Rickettsia prowazekii
European typhus
Exanthematic Typhus fever
Exanthematous typhus
Famine fever
Flea typhus
Flea-borne rickettsiosis
Flea-borne typhus
Hospital fever
Jail fever
Louse-borne [epidemic] typhus
Louse-borne rickettsiosis
Louse-borne typhus
Mexican typhus
Moscow typhus
Murine [endemic] typhus
Murine typhus
Petechial fever
Prison fever
Rat flea typhus
Ship fever
Typhus exanthematique
Typhus fever
Urban typhus
endemic flea-borne typhus
epidemic louse-borne typhus
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.
Debre's Syndrome
Debre-Mollaret Syndrome
Foshay-Mollaret Cat Scratch Fever
benign lymphoreticulosis
cat scratch fever
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.
Lyssa
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.
psittacosis
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.
active stage trachoma
trachoma dubium
Hantavirus hemorrhagic fever with renal syndrome
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.
HFRS
Hemorrhagic fever, Russian
Hemorrhagic nephrosonephritis
Puumala virus nephropathy
Plummer disease
Toxic nodular Goiter
Toxic nodular goiter
Pituitary apoplexy
Cirsoid aneurysm
A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
Arteriovenous hemangioma
Racemose Angioma
Racemose aneurysm
Racemose hemangioma
Pituitary infarction
Sea bather's eruption
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.
Cutaneous schistosomiasis
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.
A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
Boeck sarcoid
lymphogranulomatosis
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.
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.
Infection due to Clostridium tetani
clostridial tetanus
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.
Pneumocystis carinii pneumonia
Pneumocystis jirovecii pneumonia
Pneumocystis pneumonia
Pneumocystosis
Pneumocystosis pneumonia
pulmonary pneumocystosis
Gingival recession
Gingival recession, localized
localized gingival recession
minimal gingival recession
moderate gingival recession
severe gingival recession
An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.
Diverticulum - bladder
Diverticulum of bladder
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.
Sandfly fever
Sandfly-borne arboviral fever
Sandfly-borne bunyavirus fever
Sandfly-borne phleboviral disease
pappataci fever
Subluxation of lens
APHAKIA, CONGENITAL PRIMARY
Congenital absence of lens
A colonic disease that is characterized by an abnormal dilation of the colon.
Dilatation of colon
Gnathostomiasis
Infectious Disease by Gnathostoma
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.
Spinal Cord meningioma
Spinal meningioma
Cryptorchism
Undescended testicle
Undescended testis
undescended testicles
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.
Developmental expressive language disorder
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).
abscess epidural
Cerebral arteritis
ARDS
Non-cardiogenic pulmonary edema
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.
Shock lung
adult RDS
A cardiovascular system disease that involves the heart.
Xanthogranulomatous pyelonephritis
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.
corynebacterium infection
A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube.
Divergent Strabismus
Divergent concomitant strabismus
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.
Pseudotumor cerebri
benign intracran. hypt.
benign intracranial hypertension
idiopathic intracranial hypertension
autonomic nervous system disorder
A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.
A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.
Supernumerary digit
postaxial polydactyly
Constrictive pericarditis
A pericardial effusion that results from blood in the pericardial sac.
Haemopericardium
Horner syndrome
Bernard Horner syndrome
cervical sympathetic paralysis
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.
Rose's tamponade
pericardial tamponade
Congenital insufficiency of mitral valve
Mitral valve incompetence
congenital mitral insufficiency
congenital mitral regurgitation
mitral regurgitation
A otitis media which involves inflammation of the middle ear with infected effusion containing pus.
Otitis media with effusion - purulent
Purulent otitis media
hepatic vein thrombosis
Congenital fissure of tongue
Congenital plicated tongue
Fissure of tongue
Fissure of tongue, congenital
Furrowed tongue
Plicated tongue
Tongue, Fissured
geographic tongue and fissured tongue
lingua plicata
scrotal tongue
A heart disease that is caused by high blood pressure.
Stenosis of larynx
recurrent erosion of cornea
recurrent erosion syndrome
A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
FCED
Fuchs' endothelial corneal dystrophy
Fuchs' corneal dystrophy
An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
calcium pyrophosphate deposition disease
pseudogout
A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities.
Cardiovascular malfunction arising from mental factors
Cardiovascular neurosis
Krishaber's disease
Da Costa's syndrome
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.
Listeria infection
Infection by Listeria monocytogenes
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.
Strumous ophthalmia
Phlyctenular keratoconjunctivitis
HSAN III
familial autonomic nervous dysfunction
familial dysautonomia
Scleral ectasia
Baillarger syndrome
gustatory hyperhidrosis
gustatory sweating
Pericardial tumor
malignant neoplasm of pericardium
malignant tumor of Pericardium
A meningitis that has_material_basis_in a fungal infection.
An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.
PCOS
Polycystic Ovarian disease
Polycystic ovaries
Polycystic ovary syndrome
Stein-Leventhal synd.
Stein-Leventhal syndrome
Multicystic ovaries
polycystic ovary
hyperandrogenization syndrome
Ca penis
Penile Ca
malignant Penile tumor
malignant neoplasm of body of penis
penile neoplasm
necrosis of the pulp
necrotic pulp
pulp necrosis
Penile tumor
neoplasm of penis
Generalized thyroid hormone resistance
Refetoff syndrome
Thyroid hormone resistance syndrome
Thyroid hormone responsiveness defect
thyroid hormone resistance
A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.
Cicatricial pemphigoid with ocular involvement
Ocular pemphigoid
benign mucous membrane pemphigoid
benign mucous membrane pemphigoid with ocular involvement
ocular pemphigus
An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms.
Hench's syndrome
Hench-Rosenberg syndrome
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.
Tritan defect
Tritanopia
D1 Trisomy
Patau's syndrome
trisomy 13
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.
Infection by Onchocerca volvulus
Onchocerca volvulus infection
volvulosis
familial hyperlipoproteinemia
hyperlipemia
hyperlipidaemia
acute apical periodontitis of pulpal origin
A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.
A cardiovascular cancer located_in the heart.
Cardiac tumor
Tumour of heart
malignant Cardiac tumor
malignant neoplasm of heart
A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.
Dysgammaglobulinemia
A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.
Diabetic vascular disorder
A diabetes mellitus that manifests during pregnancy.
GDM
Gestational diabetes mellitus
Maternal gestational diabetes mellitus
A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.
Prediabetes
prediabetic state
A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life.
diabetes mellitus syndrome in newborn infant
Endogenous hyperlipidaemia
Fredrickson type IV Lipidemia
Fredrickson type IV hyperlipoproteinemia
Fredrickson type IV lipidaemia
VLDL hyperlipoproteinemia
familial hypertriglyceridemia
A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
Miyoshi muscular dystrophy
distal muscular dystrophy
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.
Dystrophia myotonica
Steinert disease
congenital myotonic dystrophy
myotonic dystrophy of Steinert
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.
Muscular dystrophy, Duchenne
A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
Erb's muscular dystrophy
Leyden-Mbius muscular dystrophy
limb girdle muscular dystrophy
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.
Brachmann de Lange syndrome
De Lange syndrome
EDMD
A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
Landouzy Dejerine muscular dystrophy
Landouzy-Dejerine muscular dystrophy
Muscular dystrophy, Landouzy-Dejerine
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.
Bannwarth syndrome
Bannworth's syndrome
Lyme borreliosis
Neurological Lyme disease
lyme neuroboInOwlrreliosis
neuroboInOwlrreliosis
ANEMIA HYPOCHROMIC
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.
Bronchospasm
Ocular nystagmus
Searching eye movements
visual deprivation nystagmus
Leucocoria
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.
A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
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.
Vitreous degeneration
A urinary system cancer that is located_in the ureter.
malignant tumour of ureter
malignant ureteral tumor
A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis.
Lipoid dermatoarthritis
Multicentric reticulohistiocytosis
A refractive error characterized by the inability to see farther objects clearly.
near vision
near-sightedness
short-sightedness
epilepsy, visual
Congenital equinovarus
A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.
Equinovarus deformity of foot
congenital clubfoot
congenital talipes equinovarus
A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.
Coronary artery spasm
Coronary Vasospasm
Posterior tibial neuropathy
Tibial neuropathy
Dementia in Pick's disease
LOBAR ATROPHY OF BRAIN
PICK DISEASE OF BRAIN
Pick disease
Denture sore mouth
A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve.
neoplasm of ureter
ureteral tumor
A female reproductive system cancer that is located_in the vagina.
malignant neoplasm of vagina
malignant tumor of vagina
malignant vaginal tumor
neoplasm of vagina
vagina neoplasm
vaginal tumor
Gastroparalysis
Gastroparesis syndrome
gastric atonia
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.
Dermatophytosis of Groin and Perianal Area
Dermatophytosis of groin & perianal area
Dhobie itch
A nervous system cancer that is located in the peripheral nervous system.
neoplasm of peripheral nerve
nerve sheath neoplasm
tumor of PNS
A respiratory system cancer that is located_in the trachea.
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.
head and neck neoplasm
head and neck tumours
head/neck neoplasm
tumor of head and neck
CJD
Creutzfeldt Jacob syndrome
Creutzfeldt Jakob disease
Creutzfeldt-Jacob disease
Jakob-Creutzfeldt disease
Subacute spongiform encephalopathy
Transmissible virus dementia
Ischemic peripheral neuropathy
acute esophagitis
A dysostosis that results_in abnormal fusing of adjacent bones.
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.
Food poisoning due to Clostridium botulinum
Foodborne botulism
Botulism poisoning
Infection due to clostridium botulinum
Intoxication with Clostridium botulinum toxin
Severe obesity
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.
Prader Willi syndrome
An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
familial hypertrophic cardiomyopathy
hypertrophic obstructive cardiomyopathy
An osteosclerosis that results_in numerous bone islands located_in skeleton.
Torsion of testicle
Torsion of testis
testicular Torsion
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.
female reproductive cancer
malignant Gynecologic tumor
malignant neoplasm of female genital organ
Ischemic optic neuropathy
An adrenal adenoma characterized by the over production of aldosterone.
Conn syndrome
primary aldosteronism
primary hyperaldosteronism
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.
Diffuse uveitis
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.
allergic hypersensitivity disease
hypersensitivity
hypersensitivity reaction type I disease
An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
Busse-Buschke's disease
European cryptococcosis
cryptococcal infection
cryptococcus neoformans infection
torula
torulosis
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.
Rett's disorder
cerebroatrophic hyperammonemia
Trifacial neuralgia
Trigeminal neuralgia
trifocal neuralgia
A female reproductive system disease that is located_in the vagina.
An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs.
An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
haemosiderosis
A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
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.
Necrotizing respiratory granulomatosis
Wegener granulomatosis, formerly
Congenital factor VIII disorder
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.
Hemophilia A
Subhemophilia
classic hemophilia A
A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.
dysthymia
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.
American trypanosomiasis
Chagas' disease
chagas' disease with digestive system involvement
chagas' disease with nervous system involvement
chagas' disease with other organ involvement
Neuropathic bladder
neurogenic dysfunction of the urinary bladder
neurogenic urinary bladder disorder
Low bladder compliance
hyperactivity of bladder
hypertonic bladder
hypertonicity of bladder
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.
LCM
Lymphocytic choriomeningitis virus encephalomyelitis
Lymphocytic meningitis
Lymphocytic meningoencephalitis
peripheral degeneration of retina
Lesion of ulnar nerve
Median nerve entrapment
CTS - Carpal tunnel syndrome
Carpal tunnel syndrome
carpal tunnel median neuropathy
Dyshormonogenic goiter
Dyshormonogenic goitre
dyshormonogenic goitre
A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
goitre
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.
CVID
acquired agammaglobulinemia
acquired hypogammaglobulinemia
common variable agammaglobulinemia
sporadic hypogammaglobulinemia
An otitis interna characterized by an abnormal bone growth in the middle ear.
Ca sigmoid colon
malignant tumor of sigmoid colon
punctate epithelial keratoconjunctivitis
Punctate keratitis
Thygeson superficial punctate keratitis
Thygeson's superficial punctate keratitis
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.
Dengue Fever
breakbone fever
classic dengue
classical dengue
A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.
Oligohydramnios - delivered
antepartum oligohydramnios
delivered oligohydramnios
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.
Dementia with Lewy bodies
Lewy body disease
Diffuse Lewy body disease
Senile dementia of the Lewy body type
A connective tissue disease that is located_in cartilage.
Cartilage disorder
Chondropathy
Hourglass stricture or stenosis of stomach
A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
chronic nonsuppurative destructive cholangitis
biliary liver cirrhosis
cholestatic cirrhosis
lymphoma of the testis
malignant lymphoma of testis
testicular Lymphoma
Congenital factor IX deficiency
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.
Congenital factor IX disorder
deficiency, functional factor IX
factor IX deficiency
An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
coloboInOwlma of eye
coloboInOwlma of macula
congenital ocular coloboInOwlma
An iris disease that is characterized by a complete or partial absence of the colored part of the eye.
Aplasia of iris
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.
CHF Congo virus
Congo-Crimean Hemorrhagic Fever
Crimean hemorrhagic fever
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.
Harada's disease
Vogt-Koyanagi syndrome
uveomeningoencephalitic syndrome
An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
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.
Dubin Johnson syndrome
chronic idiopathic jaundice
An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.
granular corneal dystrophy
Fetishistic transvestism
Dual-role transvestism
Transvestic fetishism
cross dresser
Scrotal varices
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.
A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Fragilitas ossium
Lobstein's syndrome
Osteopsathyrosis
Vrolik's disease
brittle bone disease
Alcoholic Hepatitis
Alcoholic hepatitis
acute Alcoholic Hepatitis
acute alcoholic hepatitis
acute alcoholic liver disease
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.
An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
Basedow's disease
Grave's disease
Graves disease
exophthalmic goiter
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.
induced malaria
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.
Chest infection - bronchopneumonia
bronchial pneumonia
lobular pneumonia
A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
Complex partial epileptic seizure
Psychomotor epilepsy
epilepsy, psychomotor
psychomotor epilepsy
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.
Infectious diarrhea
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.
Shigella boydii infectious disease
Shigella flexneri infectious disease
Shigella gastroenteritis
Shigella sonnei infectious disease
bacillary dysentery
A kidney disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].
vasopressin-resistant diabetes insipidus
Pituitary diabetes insipidus
Vasopressin deficiency
central diabetes insipidus
vasopressin defective diabetes insipidus
Compulsive gambling
An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
Pathological gambling
A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
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.
Pathological stealing
An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness.
explosive personality disorder
An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.
Pathological firesetting
firesetting behavior
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.
Athlete's foot
Dermatophytosis of foot
ringworm of foot
An eye disease that involves the globe of the eye.
Palsy of conjugate gaze
An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.
A female reproductive organ cancer that is located_in the vulva.
Ca vulva
Vulvar tumor
malignant Vulvar tumor
malignant neoplasm of vulva
malignant tumor of vulva
neoplasm of vulva
vulval cancer
vulval neoplasm
vulvar neoplasm
An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets.
Sulfemoglobinemia
Sulfhemoglobinemia
A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
postpartum coagulation defect
postpartum coagulation defect with delivery
A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species.
Capillaria infection
A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).
Bell's (facial) palsy
Bell palsy
An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling.
Retinal break
Retinal dialysis
Retinal tear
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.
Infection by Trichuris trichura
Trichuriasis infection
Whipworm disease
trichuris trichiura infection
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.
vascular hemophilia
vascular pseudohemophilia
von Willebrand disease
von Willebrand disorder
von Willebrand's-Jurgens' disease
von Willebrand-Jrgens disease
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.
Infection by Trichostrongylus
Infection by Trichostrongylus species
Trichostrongyliasis
Viral hepatitis A
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.
Viral hepatitis, type A
A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea.
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.
haemolytic-uraemic syndrome
hemolytic uremic syndrome
Duane's syndrome
Stilling-Turk-Duane syndrome
chronic progressive external ophthalmoplegia
progressive external ophthalmoplegia
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.
Idiopathic osteoporosis
juvenile osteoporosis
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.
Mathematics disorder
disorder of arithmetical skills
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.
Neonatal thyrotoxicosis
Obstruction of urethra
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.
5p deletion syndrome
5p partial monosomy syndrome
Cri-du-chat syndrome
chromosome 5 short arm deletion syndrome
chromosome 5p deletion syndrome
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.
22q11 Deletion Syndrome
Shprintzen syndrome
VCF-Velocardiofacial syndrome
deletion 22q11.2 syndrome
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.
Potter sequence
Potter syndrome
pelvic cellulitis
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.
Stem cell Leukemia
Stem cell leukaemia
Diaphragmatic - hiatus -hernia
hiatal hernia
acoustic nerve disease
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.
Mucocutaneous-lymphangitic paracoccidioidomycosis
Paracoccidioidomycosis
paracoccidioidal mycosis
Chicago disease
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.
Blastomyces Dermatitidis Infection
Blastomycotic infection
Gilchrist's disease
Infection by Blastomyces dermatitidis
North American blastomycosis
simultaneous visual perception without fusion
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.
Pseudobulbar palsy
pseudobulbar paralysis
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.
Epidemic neurolabyrinthitis
Vestibular neuritis
Vestibular Neurilemmoma
Vestibular schwannoma
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.
Locked-in state
Locked in syndrome
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.
A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
leiomyomatous neoplasm
leiomyomatous tumor
A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
Osler-Weber-Rendu disease
Rendu-Osler-Weber disease
Osler hemorrhagic telangiectasia syndrome
An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
Chiari-Frommel syndrome
Pregnancy-related A-G syndrome
hyperprolactinaemia
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.
Louis Bar syndrome
Boder-Sedgwick syndrome
Friedreich ataxia 1
Friedreich's ataxia
Friedreich's tabes
A vascular disease that is located_in the capillaries.
disease of capillaries
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).
medullary cystic disease
medullary cystic kidney
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.
Chondroectodermal dysplasia
Ellis-van Creveld syndrome
mesoectodermal dysplasia
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.
HMD - Hyaline membrane disease
Neonatal respiratory Distress syndrome
hyaline membrane disease
pulmonary hyaline membrane disease
pulmonary hypoperfusion syndrome of newborn
respiratory distress syndrome of newborn
telangiectasia
Cerebral atherosclerosis
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.
polyepiphyseal dysplasia
respiratory syncytial virus infectious disease
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.
Cementation hyperplasia
Choroidal tumor
choroid neoplasm
malignant tumor of choroid
malignant tumor of the Choroid
neoplasm of choroid
Tolosa-Hunt syndrome
A migraine that is characterized by migraine headaches that are not accompanied by an aura.
common migraine
disorder of eye movements
eye movement disorder
A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
MPS VI - Maroteaux-Lamy syndrome
arylsulfatase B deficiency
deficiency of N-acetylgalactosamine-4-sulfatase
Maroteaux - Lamy syndrome
Maroteaux-Lamy syndrome
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
Mucopolysaccharidosis, MPS-III
N-sulphoglucosamine sulphohydrolase deficiency
Sanfilippo's syndrome
heparan sulfate sulfatase deficiency
naglu deficiency
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.
Mucopolysaccharidosis, MPS-IV
Osteochondrodystrophy
chondroosteodystrophy
deficiency of N-acetylgalactosamine-6-sulphatase
deficiency of chondroitinsulphatase
galactosamine-6-sulfatase deficiency
tetraplegia
Thyroid crisis
Thyrotoxic crisis
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.
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.
An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
acute inflammatory demyelinating polyradiculopathy
Infectious neuronitis
Post-infectious polyneuritis
Postinfectious polyneuritis
acute infective polyneuritis
acute postinfectious polyneuropathy
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.
Kanner's syndrome
autism
autistic disorder of childhood onset
childhood autism
infantile autism
Huntington disease
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.
Huntington's chorea
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.
disease of subdivision of hemolymphoid system
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.
Fisher's syndrome
Miller-Fisher variant of Guillain-Barre syndrome
A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
Neurodegenerative disease
degenerative disease
An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
Sjogren syndrome
Sicca syndrome
xerodermosteosis
KCS
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.
IgG4-related dacryoadenitis and sialadenitis
Mikulicz's disease
Necrotizing sialometaplasia
Mucous retention cyst of salivary gland
Ranula
Salivary Cyst
Salivary gland mucocele
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.
Elastomyofibrosis
Idiopathic dilation cardiomyopathy
An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
Congestive cardiomyopathy
Familial dilated cardiomyopathy
primary dilated cardiomyopathy
African endomyocardial fibrosis
Becker's disease
Endomyocardial sclerosis
Obscure African cardiomyopathy
obscure African cardiomyopathy
A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Vulvar carcinoma
carcinoma of vulva
A synostosis that results_in craniosynostosis and syndactyly.
Apert syndrome
Leukemia of the CNS
A hematologic cancer located_in the central nervous system.
A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
Congenital spherocytic hemolytic anemia
Minkowski Chauffard syndrome
spherocytic anemia
Leukostasis
A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood.
Granulocytopenic disorder
Granulopenia
granulocytopenia
A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
Stenosis, carotid artery
Carotid artery stenosis
Subclavian artery stenosis
subclavian steal phenomenon
subclavian steal steno-occlusive disease
Vertebrobasilar insufficiency
Vertebro-basilar insufficiency
Vertebrobasilar arterial insufficiency
Vertebrobasilar artery syndrome
EKC
Epidemic keratoconjunctivitis
Retrolental fibroplasia
premature retinopathy
An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories.
A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse.
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.
Relapsing fever, tick-borne
Tick-borne relapsing fever
Fetal circulation
Persistent fetal circulation
Persistent fetal circulation syndrome
Persistent foetal circulation
Persistent foetal circulation syndrome
Persistent pulmonary hypertension of the newborn
congenital alveolar capillary dysplasia with misalignment of pulmonary veins
persistent foetal circulation syndrome
renal rickets
A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
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.
Dermatophytic onychia
Dermatophytosis of nail
Onychomycosis due to dermatophyte
Tinea unguium
cellulitis and abscess
cellulitis and abscess of buttock
cellulitis and abscess of face
cellulitis and abscess of finger
cellulitis and abscess of finger and toe
cellulitis and abscess of gluteal region
cellulitis and abscess of trunk
cellulitis and abscess of upper arm and forearm
dermatophytic onychomycosis
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.
Madura foot
Maduromycosis, mycotic
Mycotic mycetoma
eumycetoma
maduromycosis
Arterial retinal branch occlusion
Retinal Arterial Branch Occlusion
Retinal arterial branch occlusion
Vertebral artery syndrome
A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery.
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.
progressive intracranial arterial occlusion
A bladder benign neoplasm that derives_from smooth muscle cells.
leiomyoma of the urinary bladder
FGS
FSGS
focal glomerular sclerosis
focal glomerulosclerosis
Anemia due to protein deficiency
Protein-deficiency anaemia
Protein-deficiency anemia
protein-deficiency anaemia
deficiency anemias
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.
HMN (Hereditary motor Neuropathy) Proximal type I
SMA1
Spinal muscular atrophy 1
hereditary motor neuropathy proximal type I
infantile muscular atrophy
progressive muscular atrophy of infancy
acute glomerulonephritis with lesion of proliferative glomerulonephritis
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.
Dissociated nystagmus
Gouty arthropathy
An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
Articular gout
gouty arthritis
BT - Brain tumour
A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
adult brain tumor
adult malignant brain neoplasm
brain neoplasm
brain neoplasm, adult
malignant brain tumour
malignant primary brain neoplasm
malignant primary brain tumor
malignant tumor of Brain
malignant tumor of adult brain
neoplasm of brain
primary brain neoplasm
primary brain tumor
primary malignant neoplasm of brain
tumor of the Brain
Retrosternal thyroid goiter
Retrosternal thyroid goitre
Substernal goiter
Substernal goitre
substernal goitre
PDR
Right bundle branch block with left posterior fascicular block
An uterine benign neoplasm derived from the smooth muscle layer of the uterus.
Plexiform leiomyoma
UTERUS FIBROMA
leiomyoma of Corpus Uteri
uterine leiomyoma
A respiratory system cancer that is located_in the lung.
lung neoplasm
A respiratory system cancer that is located_in the bronchus.
malignant neoplasm of bronchus and lung
malignant neoplasm of bronchus or lung
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.
diarrhea is both a disease and a symptom [ms]
diarrhea of presumed infectious origin
diarrhoea
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.
Typhoid
An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
Hematoporphyria
Porphyrinopathy
disorder of porphyrin and hem metabolism
disorder of porphyrin metabolism
Hereditary coproporphyria
Coproporphyrinogen oxidase deficiency
hereditary coproporphyria porphyria
An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
EPP
Erythropoietic protoporphyria
Protoporphyria
Erythropoietic porphyria
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.
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.
tuberculosis of intestine
An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.
Juvenile osteochondritis of the spine
Juvenile osteochondrosis of Scheurermann
Juvenile osteochondrosis of spine
Scheuermann disease
Scheuermann's kyphosis
Sherman's Disease
Exocrine pancreatic insufficiency
Islet cell hyperplasia
A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
nesidioblastosis
persistent hyperinsulinemia hypoglycemia of infancy
A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus.
Cataract - diabetic
A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.
Congenital toxoplasmosis
Toxoplasmosis - congen.
Paedophilia
Chondromalacia of patella
Chondromalacia patellae
softening of articular cartilage of patella
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.
Cutis hyperelastica
OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS].
elastic skin
A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process.
A movement disease that is of unknown etiology characterized by progressive rigidity.
Stiff-man syndrome
stiff man syndrome
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.
Dermatophytosis of hand
Tinea manus
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.
Chigger-borne rickettsiosis
Chigger-borne typhus
Japanese river fever
Kedani fever
Mite-borne rickettsiosis
Mite-borne typhus
Scrub (mite-borne) typhus
Scrub mite-borne typhus
Tropical typhus
Tsutsugamushi
Tsutsugamushi disease
Tsutsugamushi fever
Typhus fever due to Rickettsia tsutsugamushi
AAT deficiency
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.
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.
Stone Man Syndrome
myositis ossificans progressiva
progressive myositis ossificans
progressive ossifying myositis
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.
Kawasaki's disease
MLNS
acute febrile MCLS
acute febrile mucocutaneous lymph node syndrome
mucocutaneous lymph node syndrome
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.
congenital dyshaematopoietic anaemia
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.
Addison's anaemia
Biermer's anemia
ANEMIA PERNICIOUS
Biermer's anaemia
pernicious anaemia
A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
IGS
Imerslund-Grasbeck syndrome
MGA1 Norwegian type
Grasbeck-Imerslund syndrome
RH-MGA1
megaloblastic anaemia
recessive hereditary megaloblastic anaemia 1
recessive hereditary megaloblastic anemia 1
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.
Blackfan - Diamond syndrome
chronic constitutional pure red cell anaemia
A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.
BLINDNESS COLOR
Colour blindness
Colour vision deficiency
Pure Red cell Aplasia
Pure red cell aplasia
Red cell hypoplasia
primary red cell aplasia
Cutaneous Sarcoidosis
Cutaneous sarcoid
Cutaneous sarcoidosis
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.
Cardiac sarcoidosis
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.
Portal-systemic encephalopathy
Constitutional aplastic anaemia
congenital aplastic anaemia
congenital aplastic anemia
congenital hypoplastic anaemia
Non-Gonococcal Urethritis
Nongonococcal urethritis
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.
Farcy pipes
Infection due to Pseudomonas mallei
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.
primary extrapulmonary coccidioidomycosis
Intrinsic (urethral) sphincter deficiency [ISD]
A balantitis characterized by white plaques or patches on genitals.
Penile Lichen Sclerosus
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
A syndrome that is characterized by overgrowth of the bones, skin, and other tissues.
Wiedemann's syndrome
Disintegrative psychosis
Heller's syndrome
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.
Symbiotic psychosis
neoplasm of accessory sinus
tumor of Accessory sinus
A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
Moebius congenital oculofacial paralysis
Oromandibular-limb hypogenesis spectrum
Bourneville's disease
A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
Tuberose sclerosis
cerebral sclerosis
Epiloia
Tuberous sclerosis syndrome
disorder of nasal sinus
Tetanus neonatorum
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.
neonatal tetanus
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.
An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
Albers-Schonberg disease
marble bone
A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
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.
Normal tension glaucoma
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.
Intermittent angle-closure glaucoma
Prodromal angle closure glaucoma
Angle-closure glaucoma, subacute
ACG - Angle-closure glaucoma
Angle Closure Glaucoma
Angle-closure glaucoma
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.
Closed angle glaucoma
Narrow cleft glaucoma
primary open-angle glaucoma with narrow angles
Drusen of optic disc
optic nerve head drusen
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.
Infection due to Aspergillus
Fetal blood loss from fetal hemorrhage into co-twin
Fetal hemorrhage into co-twin
Twin to twin transfusion
Twin-to-twin blood transfer
A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
Obstruction of bile duct
bile occlusion
A pre-eclampsia characterized by the presence of seizures.
Eclampsia in puerperium
Eclampsia, postpartum
Postpartum eclampsia
A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
Atresia of bile duct
Congenital biliary atresia
biliary atresia, congenital
neoplasm of frontal sinus
tumor of the Frontal sinus
Atrial septal defect within oval fossa
Defect, Patent or persistent, ostium secundum
Ostium secundum type atrial septal defect
Persistent ostium secundum
foramen ovale patent
Campylobacteriosis
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.
A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.
Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
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.
Fanconi anaemia
Fanconi pancytopenia
Fanconi panmyelopathy
Fanconi's anaemia
Fanconi's anemia
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.
Pseudoexfoliation glaucoma
Pseudoexfoliation syndrome
Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
Intrinsic enamel discolouration of fluorosis
Mottled teeth
Mottling of enamel
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.
Total or mature cataract
Total, mature senile cataract
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.
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.
A thiamine deficiency disease that is characterized by being severe and chronic.
An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma.
Epiphora
Excessive tear production
Watering eye
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.
Infestation by Phthirus pubis
Pediculosis Pubis
Pediculus pubis
Phthiriasis pubis
Phthirus pubis
Phthirus/pediculus pubis - pubic lice - crabs
crabs
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.
Oriental liver fluke disease
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.
Infection by Opisthorchis
An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
Addison disease, chronic adrenal insufficiency
HYPOADRENOCORTICISM, FAMILIAL
Addison disease
primary adrenocortical insufficiency
primary hypoadrenalism
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.
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.
Ulcus molle, skin
benign joint hypermobility
acute myringitis
A uterine cancer that is located_in tissues lining the uterus.
endometrial Ca
endometrial neoplasm
malignant endometrial neoplasm
malignant neoplasm of endometrium
neoplasm of endometrium
primary malignant neoplasm of endometrium
tumor of Endometrium
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.
Chlamydial conjunctivitis
Inclusion blennorrhoea
Paratrachoma
adult inclusion conjunctivitis
inclusion blenorrhea
familial multiple lipoprotein-type hyperlipidemia
hyperbetalipoproteinemia with prebetalipoproteinemia
mixed hyperlipidaemia
type IIb hyperlipoproteinemia
Fox Fordyce disease
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.
Durand-Nicolas-Favre disease
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.
Climatic or tropical bubo
Lymphogranuloma inguinale
Poradenitis inguinale
Strumous bubo
A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.
eccrine miliaria
heat rash
sweat rash
A skin disease located_in the sweat glands.
Patent ductus Botalli
ductus arteriosus, Patent
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.
familial hypobetalipoproteinemia
microsomal triglyceride transfer protein deficiency disease
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.
acute angle-closure glaucoma
Multiple cranial nerve palsies
Multiple cranial nerve palsy
Lack or loss of sexual desire
Hypolipoproteinaemia
Lipoprotein deficiencies
familial alpha-lipoprotein deficiency
familial high density lipoprotein deficiency
familial hypoalphalipoproteinemia
sinus node infection
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.
Epidermoid papilloma
A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.
Hypo-beta-lipoproteinemia
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
lecithin acyltransferase deficiency
Protan defect
Protanopia
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.
ACHM
Monochromatism
An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
Blocked lacrimal canaliculus
Obstruction of lacrimal canaliculus
Obstruction of lacrimal ducts
An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image.
Facial Palsy
A female reproductive system disease that is characterized by the absence of menstruation.
absence of menstruation
amenia
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.
Schistosoma Hematobium Infection
Schistosoma haematobium
Schistosoma haematobium infection
Schistosoma hematobium infectious disease
Schistosomiasis due to schistosoma haematobium
Schistosomiasis of bladder
Vesical schistosomiasis
bladder Schistosomiasis
cystitis with bilharziasis
benign paroxysmal positional vertigo
A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
hereditary multi-infarct dementia
Obstruction of bladder neck or vesicourethral orifice
ulcerative cystitis
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.
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.
hypermature cataract
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.
Ectoparasitic disease
parasitemia
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.
Marie-Sainton Disease
cleidocranial dysostosis
small intestinal Lymphoma
An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye.
Alcoholic Cirrhosis
Alcoholic cirrhosis of liver
Laennec's cirrhosis
Laennec's cirrhosis, alcoholic
Portal cirrhosis
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.
Folate deficiency anaemia
Folate deficiency anemia
Folate-deficiency anaemia
Folate-deficiency anemia
Folate-deficient megaloblastic anaemia
folic acid deficiency anaemia
A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation.
An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.
Lloyd's syndrome
Autoimmune polyglandular failure
autoimmune polyendocrinopathy
A bipolar disorder that is characterized by at least one manic or mixed episode.
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.
Infection by dematiacious fungi
phaehyphomycosis
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.
primary Angle Closure Glaucoma
acute poststreptococcal glomerulonephritis
Post-Streptococcal Glomerulonephritis
acute Diffuse Glomerulonephritis
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.
Black water fever
Blackwater fever
Hemoglobinuric, malaria
Malarial Hemoglobinuria
Nystagmus associated with disorder of the vestibular system
A bone inflammation disease that results_in inflammation located_in epicondyle.
Lateral epicondylitis
andrel epicondylitis
archer's elbow
golfer's elbow
hockey elbow
medial epicondylitis
shooter's elbow
tennis elbow
Cementum caries
Dental caries of root surface
Root caries
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.
African tick typhus
Boutonneuse disease
Conor and Bruch's disease
Kenya fever
Kenyan tick typhus
Mediterranean spotted fever
Mediterranean tick fever
Rickettsia conorii spotted fever
South African tick-bite fever
african tick typhus
kenya tick typhus
marseilles fever
A large intestine cancer that is located_in the anus.
anal cancer
malignant anal tumor
Persistent tuberculum impar
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.
TSS
Toxic Shock syndrome
Toxic shock syndrome
toxic shock
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.
Fredrickson type I hyperlipoproteinemia
Fredrickson type I lipaemia
familial LPL deficiency
familial chylomicronemia syndrome
familial hyperlipoproteinemia type I
hypercholesterinaemic xanthomatosis
hyperchylomicronemia
mixed hyperglyceridemia
A urinary system disease which consists of the presence of bacteria in urine.
A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls.
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.
Broad ligament laceration syndrome
An ovarian disease that is characterized by irregular or absent ovulation.
An ureteral disease this is characterized by the formation of stoney concentrations in the ureter.
Ureteric calculus
Ureteric stone
calculus of ureter
Gyrate atrophy of the choroid and/or retina
Ornithinemia with gyrate atrophy
gyrate atrophy of the retina
Neurolipocytoma
Hippel Lindau syndrome
Von Hippel-Lindau syndrome
von Hippel-Lindau syndrome
Congenital hypogammaglobulinemia
Congenital hypogammaglobulinaemia
Bruton agammaglobulinemia tyrosine kinase deficiency
Bruton's Sex-Linked Agammaglobulinemia
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.
BTK deficiency
Bruton's agammaglobulinaemia
Bruton's type agammaglobulinemia
Bruton-type agammaglobulinemia
Alcoholic polyneuropathy
Alcohol-related polyneuropathy
Adhesive capsulitis of shoulder
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.
adhesions-capsulitis,shoulder
adult onset dermatomyositis
A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in ALPL on chromosome 1p36.12.
childhood hypophosphatasia
deficiency of alkaline phosphatase
hypophospatasia, childhood
dihydropyrimidine dehydrogenase deficiency
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.
Dihydrouracil Dehydrogenase deficiency
familial pyrimidinaemia
thymine-uracilurea
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.
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.
abdominal obesity-metabolic syndrome 1
dysmetabolic syndrome X
metabolic syndrome X
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.
A frontal sinusitis which lasts for less than 4 weeks.
A male infertility disease characterized by the absence of any measurable level of sperm in semen.
spermatogenic failure
A male fertility issue defined as a low sperm concentration in the ejaculate.
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.
A suppurative otitis media which is persistent and long-lasting.
chronic suppurative otitis media
Down's syndrome
Complete trisomy 21 syndrome
Down's syndrome - trisomy 21
Downs syndrome
G Trisomy
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.
trisomy 21 syndrome
Vitreoretinal dystrophies
A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain.
adult onset Still's disease
adult-onset Still disease
A urinary system disease that is located_in the ureter.
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.
FRAGILE X MENTAL RETARDATION SYNDROME
MARKER X SYNDROME
MARTIN-BELL SYNDROME
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.
benign neonatal convulsions
benign familial neonatal seizures
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.
Pulmonic insufficiency
Pulmonic valve regurgitation
pulmonary incompetence
pulmonary incompetence, non-rheumatic
pulmonary insufficiency following trauma and surgery
pulmonary regurg.
pulmonary regurgitation
fibrosing cholangitis
Ascending Cholangitis
Ascending cholangitis
Pachydermoperiostosis of nail
Pachydermoperiostosis syndrome
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.
Ebstein's anomaly
Ebstein's anomaly of common atrioventricular valve
Ebstein's anomaly of right atrioventricular valve
Ebstein's anomaly of tricuspid valve
Noonan syndrome with multiple lentigines
Generalized lentiginosis
Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
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.
Gorlin syndrome II
Lentiginosis profusa syndrome
Moynahan syndrome
Multiple lentigines syndrome
Progressive cardiomyopathic lentiginosis
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.
Tuberculous empyema
An eye disease characterized by a lack or loss of vision.
vision impairment
vision loss
visual impairment
An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.
A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
Marfan's syndrome
A malaria that involves infection with more than one species of Plasmodium at the same time.
Malaria fever by more than one parasite
malaria by more than one parasite
A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Parkinson disease
paralysis agitans
Suppurative thyroiditis
Infectious thyroiditis
acute suppurative thyroiditis
systemic primary carnitine deficiency disease
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.
carnitine transporter deficiency
carnitine uptake defect
deficiency of plasma-membrane carnitine transporter
primary carnitine deficiency
renal carnitine transport defect
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.
Crusted scabies
Pus cells in urine
Azorean disease
MJD
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.
SCA3
spinocerebellar ataxia 3
spinocerebellar ataxia type 3
Capillary leak syndrome
A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
spinocerebellar ataxia
Calve - Perthes' disease
An osteochondrosis that results_in death and fracture located_in hip joint.
Coxa plana
Juvenile osteochond-hip/pelvis
Juvenile osteochondrosis of hip and/or pelvis
Legg-Calve-Perthes symptom
Perthe's disease
Perthes disease
Pseudocoxalgia
juvenile osteochondrosis of hip and pelvis
osteochondrosis of Legg-Calve-Perthes
pseudocoxalgia
Dracontiasis
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.
Infection by Dracunculus medinensis
Glossopharyngeal neuralgia
Brain degeneration
A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue.
A physical urticaria induced by sweating.
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.
Sclerokeratitis
A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
Gonadal dysgenesis syndrome
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.
familial hyperkalemic periodic paralysis
Hypokalemic familial periodic paralysis
Hypokalemic periodic paralysis
Periodic paralysis I
Westphal disease
familial hypokalemic periodic paralysis
familial periodic paralysis
periodic hypokalemic paralysis
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.
Farmers lung
farmer lung
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.
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.
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.
Gestational herpes
herpes gestationis
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.
Dumping (jejunal) syndrome
Jejunal syndrome
Acid esterase deficiency
Acid lipase deficiency
Wolman xanthomatosis
Wolman's disease
Wolman's or triglyceride storage type III disease
Xanthomatosis, familial
Lipid proteinosis
URBACH-WIETHE DISEASE
Lipoid proteinosis
Alpha-galactosidase A deficiency
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.
Angiokeratoma Corporis Diffusum
Fabry's disease
alpha galactosidase deficiency
deficiency of melibiase
A-fucosidase deficiency
alpha fucosidase deficiency
hereditary ceroid lipofuscinosis
A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
Sphingomyelinase Deficiency Disease
lipoid histiocytosis
sphingomyelin lipidosis
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.
11p partial monosomy syndrome
Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
chromosome 11p13 deletion syndrome
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.
Reye's syndrome
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.
A disease that is characterized by abnormally rapid cell division.
cell process disease
neoplasm
A thyroid gland disease which involves an underproduction of thyroid hormone.
Thyroid deficiency
Thyroid insufficiency
A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.
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.
Multiple gastrointestinal atresias
GIDID
familial intestinal polyatresia syndrome
gastrointestinal defects and immunodeficiency syndrome
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.
VATER syndrome
An otitis interna which involves inflammation of the labyrinths.
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.
Silver Russell Dwarfism
An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.
Anomaly, Rieger's
Axenfeld syndrome
Hagedoom syndrome
RGS - Rieger syndrome
Rieger's anomaly
An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
Rutledge lethal multiple congenital anomaly syndrome
Smith-Opitz-Inborn syndrome
Clouston's hidrotic ectodermal dysplasia
Clouston's syndrome
Hidrotic ectodermal dysplasia syndrome
ectodermal dysplasia 2, Clouston type
hidrotic ectodermal dysplasia
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.
JBS
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
Galactosemia II
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.
Radial aplasia-thrombocytopenia syndrome
Thrombocytopenia with absent radii (TAR) syndrome
chromosome 1q21.1 deletion syndrome
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.
recurrent major depression
single major depressive episode
An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.
GLYCINEMIA, KETOTIC
KETOTIC HYPERGLYCINEMIA
ketotic II glycinemia
ketotic glycinemia
propionic aciduria
propionyl-CoA carboxylase deficiency
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.
Branchio-Oto-renal syndrome
Branchio-otorenal dysplasia
Melnick-Fraser syndrome
branchiootorenal dysplasia
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.
Keller syndrome
Opitz-Kaveggia syndrome
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.
myotubular myopathy
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.
2-methyl-3-hydroxybutyricacidemia
3-ketothiolase deficiency
3-oxothiolase deficiency
Mitochondrial acetoacetyl-CoA Thiolase deficiency
alpha-methylacetoaceticaciduria
peroxisomal thiolase deficiency
A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene.
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.
WEAVER-LIKE SYNDROME
Weaver-Williams syndrome
CFND
CFNS
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.
craniofrontonasal dysostosis
craniofrontonasal dysplasia
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.
juvenile periodontitis
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).
Trichorhinophalangeal dysplasia type I
trichorhinophalangeal syndrome type 1
type I trichorhinophalangeal syndrome
OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS].
A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
X-linked Russell-Silver syndrome
A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
cerebral gigantism
An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
methylmalonic aciduria
A benign vascular tumor that is composed of dilated lymphatic channels.
Congenital lymphangioma
benign lymphangioma
An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
Isovaleryl-CoA dehydrogenase deficiency
isovaleric acid CoA dehydrogenase deficiency
isovaleric aciduria
An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
Argininosuccinate lyase deficiency
argininosuccinic acidemia
arginosuccinase deficiency
deficiency of argininosuccinate lyase
A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
Multiple synostosis syndrome
SYNOSTOSES, TARSAL, CARPAL AND DIGITAL
Asyndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.
dominant larsen syndrome
A renal disease that is characterized by the failure of one or both kidneys to develop.
hereditary renal aplasia
hereditary urogenital adysplasia
renal adysplasia
renal aplasia
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.
McKusick type metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
CHH
blepharophimosis, ptosis, and epicanthus inversus syndrome
Blepharophimosis, ptosis, epicanthus inversus syndrome
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.
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.
Late Spondyloepiphyseal Dysplasia
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
LCA
Leber's amaurosis
Leber's disease
Leber's congenital amaurosis
Christ-Siemens-Touraine Syndrome
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).
Ectodermal Dysplasia 1, Anhydrotic
Hypohidrotic X-linked ectodermal dysplasia
anhidrotic ectodermal dysplasia 3
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.
Dubowitz's syndrome
A periodontal disease that is located_in the gums.
A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
mucoviscidosis
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.
Echinococcosis of liver
echinococcal disease
hepatic echinococcosis
hydatid disease
hydatidosis
liver echinococcus
pulmonary echinococcosis
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.
Cholera
Cholera - Vibrio cholerae
Cholera due to Vibrio cholerae
Vibrio cholerae
A disease of anatomical entity that is located_in reproductive system organs.
genital system disease
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.
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.
Disseminated candidiasis
systemic candidiasis
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.
anxious personality disorder
A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
character disorder
An intestinal disease located_in the cecum.
disorder of cecum
A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Caecum carcinoma
Cecal cancer
carcinoma of cecum
A large intestine cancer that is located_in the cecum.
malignant neoplasm of caecum
malignant tumor of the cecum
A skin disease that is characterized by inflammation of subcutaneous adipose tissue.
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.
disorder of pleura
non-neoplastic pleural disease
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue.
malignant mixed cancer
malignant mixed neoplasm
malignant mixed tumor
mixed neoplasm
mixed tumor
mixed tumor, malignant
An endocrine gland cancer located_in the parathyroid glands located in the neck.
Parathyroid gland neoplasm
carcinoma of Parathyroid gland
malignant neoplasm of parathyroid gland
malignant neoplasm of the Parathyroid
malignant tumor of parathyroid gland
neoplasm of parathyroid gland
parathyroid gland adenocarcinoma
parathyroid gland cancer
parathyroid neoplasm
A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
hypersensitivity reaction type III disease
A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury.
immune complex disease
Quincke's edema
Angioneurotic oedema
A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues.
angioneurotic edema
giant urticaria
A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
Organic Mental disorder
cognitive disease
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.
Chromomycosis
Mossy foot disease
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.
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.
mycoses
mycosis
Everted margin
Ectropion of eyelid
Low pressure hydrocephalus
A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.
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.
acute chest syndrome in sickle cell disease
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.
ACUTE RHEUMATIC FEVER
RhF - Rheumatic fever
thrombocytopenia due to platelet alloimmunization
Auto-immune thrombocytopenia
Immune thrombocytopenia
Thrombocytopenia Due to Immune Destruction
A blood platelet disease that is characterized by low a platelet count in the blood.
A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system.
clinical depression
unipolar depression
A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
Adenitis
Inflammation of lymph node
acute adenitis
acute lymphadenitis
chronic Lymphadenitis
chronic adenitis
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.
A skin disease characterized_by growth of keratin on the skin or mucous membranes.
A thoracic cancer that originates in the mammary gland.
breast tumor
malignant neoplasm of breast
malignant tumor of the breast
mammary cancer
mammary neoplasm
mammary tumor
primary breast cancer
A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
Complex Fibroadenoma of breast
Fibroadenoma
Fibroadenoma of breast
Juvenile fibroadenoma
cellular Fibroadenoma
fibroadenoma
juvenile fibroadenoma of breast
A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
malignant neoplasm
malignant tumor
primary cancer
A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures.
Ademoma - breast
ductal papilloma
A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
adenomyoepithelioma of the breast
breast Adenomyoepithelioma with malignant Change
malignant adenomyoepithelioma of breast
A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
Interventricular septal defect
Ventricular septal abnormality
A brain cancer that is located in the supratentorial region.
Brain neoplasm, Supratentorial
malignant Supratentorial tumor
Infantile Melanotic neuroectodermal neoplasm
Melanotic neuroectodermal tumor
Melanotic neuroectodermal tumor of infancy
Melanotic neuroectodermal tumour
Melanotic neuroectodermal tumour of infancy
Pigmented neuroectodermal tumour of infancy
melanotic neuroectodermal tumour
A pineal gland neoplasm located_in the brain.
Pineal PNET
A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall.
A bladder disease that is characterized by inflammation of the bladder.
Cardiac septal defects
Congenital septal defect of heart
Septal defect
septal defect
Congenital Heart Defects
Congenital anomaly of heart
Heart Malformation
Heart-congenital defect
congenital heart defect
heart defect
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.
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.
secondary angle-closure glaucoma with rubeosis
An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
neuroendocrine neoplasm
A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed.
ichthyoses
non-syndromic ichthyosis
A disease of anatomical entity that occurs in the muscular and/or skeletal system.
An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
Endocrine tumor
endocrine neoplasm
malignant Endocrine tumor
malignant neoplasm of endocrine gland
malignant tumour of endocrine gland
neoplasm of endocrine gland
neoplasm of endocrine system
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.
X-linked ichthyosis with steryl-sulphatase deficiency
X-linked placental steryl-sulphatase deficiency
X-linked recessive ichthyosis
A lipid metabolism disorder that involves defects in steroid metabolism.
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.
Dominant congenital ichthyosiform erythroderma
primitive Neuroectodermal neoplasm
An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.
Rheumatic aortic stenosis
Aortic stenosis
rheumatic aortic valve stenosis
Clear cell acanthoma
Pale (Clear cell) acanthoma
Adding UMLS CUI for Curling Ulcer C0013295.
Curling Ulcer
Curling's ulcers
Stress Ulcer
An organ system cancer that is located in the peritoneum.
cancer of peritoneum
peritoneal neoplasm
Occlusion, of retinal vein
Retinal vein occlusion
Retinal vasc. occlusion
Eccrine tumor
eccrine skin neoplasm
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.
Cryptosporidial gastroenteritis
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.
Infection by Cryptosporidium
intestinal cryptosporidiosis
Drug-induced psychosis
Drug-induced psychotic disorder
A carcinoma that derives_from squamous epithelial cells.
epidermoid carcinoma
malignant squamous cell tumor
squamous carcinoma
squamous cell Epithelioma
squamous cell cancer
Blood Vessel neoplasm
Blood vessel tumour disorder
A cardiovascular cancer that is located_in blood vessels.
Blood vessel tumor
Blood vessel tumors
Haemangiomatous tumour
blood vessel neoplasm
leiomyosarcoma of the renal Vein
malignant great vessel tumor
malignant tumor of pulmonary Vein
malignant tumor of pulmonary artery
malignant vascular neoplasm
malignant vascular tumor
neoplasm of great vessel
pulmonary artery malignant neoplasm
pulmonary vein malignant neoplasm
renal vein leiomyosarcoma
vascular tissue neoplasm
vascular tumors
A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart.
Mitral stenosis
PARRY-ROMBERG SYNDROME
An organ system cancer that located_in the heart and blood vessels.
Cardiovascular tumors
cardiovascular neoplasm
Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal
Melkersson's syndrome
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.
vascular tissue disease
An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.
Thyroid gland neoplasm
malignant neoplasm of thyroid gland
malignant tumour of thyroid gland
neoplasm of thyroid gland
thyroid neoplasm
An endocrine gland cancer located_in the pituitary gland located at the base of the brain.
Pituitary gland neoplasm
malignant Pituitary neoplasm
malignant tumor of pituitary gland
neoplasm of pituitary gland
pituitary gland cancer
pituitary neoplasm
Adrenal Rest neoplasm
A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.
Advanced malignant Mesothelioma of Peritoneum
advanced malignant peritoneal mesothelioma
malignant mesothelioma of peritoneum
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.
Diffuse malignant Mesothelioma
advanced malignant mesothelioma
asbestos-related malignant mesothelioma
malignant tumor of Mesothelium
A carcinoma that is located_in the inside of the abdomen.
primary peritoneal carcinoma
An endocrine gland cancer located_in the pancreas.
Ca tail of pancreas
Ca head of pancreas
Ca body of pancreas
malignant neoplasm of body of pancreas
malignant neoplasm of head of pancreas
malignant neoplasm of tail of pancreas
pancreas neoplasm
pancreatic neoplasm
pancreatic tumor
A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue.
malignant neoplasm of the Exocrine pancreas
malignant tumor of exocrine pancreas
malignant tumour of exocrine pancreas
An islet cell tumor that has_material_basis_in epithelial cells.
Islet cell carcinoma
carcinoma of endocrine pancreas
malignant neoplasm of islets of Langerhans
pancreatic neuroendocrine carcinoma
A pancreatic cancer that is located_in the pancreatic islet cells.
Islet cell tumor
Islet cell tumour
Islet cell neoplasm
endocrine pancreas cancer
islet cell tumour
malignant pancreatic Endocrine tumor
malignant pancreatic Endocrine tumour
malignant tumor of endocrine pancreas
malignant tumour of endocrine pancreas
pancreatic Endocrine neoplasm
A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
Non-neoplastic urinary tract disease
urinary tract disease
Fibro-osteoma
A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma.
peripheral ossifying fibroma
A carcinoma that derives_from neuroendocrine cells.
peripheral neuritis
A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
Pathologically calcified structure
pathologic calcification
A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
absence seizure
petit mal seizure
pyknolepsy
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.
epilepsy syndrome
epileptic syndrome
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.
Generalised epilepsy
COPPER TRANSPORT DISEASE
Menkes kinky-hair syndrome
steely hair syndrome
A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
CA - bone cancer
bone neoplasm
bone tumour
malignant bone neoplasm
malignant bone tumour
malignant neoplasm of bone
malignant osseous tumor
neoplasm of bone
osseous tumor
A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
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.
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.
fibrous dysplasia of bone
osteitis fibrosa disseminata
polyostotic fibrous dysplasia
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.
jaw neoplasm
neoplasm of jaw
central giant cell (reparative) granuloma
central giant cell granuloma
central giant cell reparative granuloma of jaw
Sexual impotence
erectile dysfunction
A heart septal defect located_in in the septum that separates the two atria of the heart.
atrial septal defect
atrioseptal defect
auricular septal defect
congenital atrial septal defect
interatrial septal defect
interauricular septal defect
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.
NANBH
Viral hepatitis C
chronic hepatitis C
hepatitis C infection
hepatitis nonA nonB
A hepatitis that involves viral infection causing inflammation of the liver.
Viral hepatitis with hepatic coma
animal viral hepatitis
human viral hepatitis
A cranial nerve disease that is located_in the optic nerve.
disorder of the second nerve
optic nerve disorder
optic neuropathy
Fibroxanthosarcoma
MFH
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.
Naevocarcinoma
malignant melanoma
Hepatoid yolk sac tumour
Yolk Sac neoplasm
Yolk sac tumor
A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
Yolk sac tumour
endodermal sinus tumour
infantile embryonal carcinoma
HG-PRT deficiency
Lesch - Nyhan syndrome
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine-phosphoribosyltransferase deficiency
X-linked hyperuricemia
deficiency of IMP pyrophosphorylase
hypoxanthine guanine phosphoribosyltransferase deficiency
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.
Sex Cord-Stromal neoplasm
Sex cord stromal tumour
Specialized gonadal neoplasm
Specialized gonadal tumor
Specialized gonadal tumour
sex cord-gonadal stromal tumour
An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
Blood urate raized
uricacidemia
A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
Hypogonadotropic Hypogonadism
Klinefelter's syndrome
XXY syndrome
XXY trisomy
A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.
sex differentiation disease
A gonadal disease that is characterized by diminished functional activity of the gonads.
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.
Dwarfism-Onychodysplasia
Fifth Digit Syndrome
Short Stature-Onychodysplasia.
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.
Gaucher disease
acid beta-glucosidase deficiency
glocucerebrosidase deficiency
glucosylceramide beta-glucosidase deficiency
kerasin thesaurismosis
A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
Sphingolipidosis
sphingolipidoses
Fanconi Schlesinger syndrome
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.
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.
Supra-valvular aortic stenosis
An organ system cancer that is manifested in the reproductive organs.
Reproductive tumor
cancer of reproductive system
malignant reproductive system neoplasm
LNMS
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.
Laurence-Moon-Biedl syndrome
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
happy puppet syndrome
puppetlike syndrome
Broad Thumb-Hallux syndrome
A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
Rubinstein syndrome
proximal chromosome 16p13.3 deletion syndrome
A bone development disease that results in defective ossification of located in bone.
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.
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.
trichomonas infection
A cholangitis that is characterized by an inflammation that is located in the gallbladder.
acute and chronic cholecystitis
acute cholecystitis
acute on chronic cholecystitis
chronic cholecystitis
A female reproductive system disease that is located_in the fallopian tube.
A fallopian tube cancer that is located_in the fallopian tube.
cancer of the fallopian tube
carcinoma of fallopian tube
fallopian tube Ca
A female reproductive organ cancer that is located_in fallopian tube.
fallopian tube neoplasm
malignant neoplasm of uterine tube
malignant tumor of fallopian tube
malignant tumour of fallopian tube
neoplasm of fallopian tube
tumor of the fallopian tube
tumor, fallopian tube, malignant
A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
Leiomyosarcomas
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.
infantile cerebral palsy
A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.
Adenosarcoma
mullerian Adenosarcoma
Rectal tumor
neoplasm of rectum
rectum neoplasm
A colorectal cancer that is located_in the rectum.
cancer of rectum
carcinoma of rectum
carcinoma of the rectum
malignant Rectal tumor
malignant neoplasm of rectum
malignant rectum tumor
malignant tumor of rectum
rectal cancer
A rectum cancer that derives_from epithelial cells of glandular origin.
Rectal adenocarcinoma
A nervous system benign neoplasm that is characterized as a nerve tissue tumor.
Macular puckering of retina
Macular retinal puckering
cellophane maculopathy
degeneration of macula and posterior pole
degeneration of macula and posterior pole of retina
degeneration of macula or posterior pole
A musculoskeletal system cancer that is located_in connective tissue.
Tumour of connective tissue
connective tissue neoplasm
neoplasm of connective tissues
T-cell immunodeficiency with thymic aplasia
A T cell deficiency that results from the disfunction or underdevelopment of the thymus.
Nezelof's syndrome
thymic aplasia
thymic dysplasia with normal immunoglobulins
hyperinsulinemia
A female reproductive organ cancer that is located_in the placenta.
Placental tumors
malignant Placental tumor
malignant neoplasm of placenta
neoplasm of placenta
placental cancer
primary malignant neoplasm of placenta
A choriocarcicoma that develops in the presence of a preceding gestational event.
Gestational chorionepithelioma
Molar pregnancy with choriocarcinoma
Gestational choriocarcinoma
A hyperostosis that involves formation of new bone on the surface of preexisting bone.
bone spur
bony outgrowth
orbital exostosis
osteophyte
swimmer's exostosis
A cognitive disorder that involves an excessive, irrational dread of everyday situations.
anxiety
anxiety state
A specific developmental disorder that involves specific developmental disorders of speech and language.
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.
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.
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.
Serum hepatitis
chronic hepatitis B
hepatitis B infection
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.
delta hepatitis
Autoimmune Hepatitis
An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.
Autoimmune chronic active hepatitis
Autoimmune hepatitis
autoimmune hepatitis with centrilobular necrosis
A bone remodeling disease that results in an abnormal growth of located in bone.
bone hypertrophy
hypertrophy of bone
A maxillary sinusitis which lasts for less than 4 weeks.
acute antritis
A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.
An anxiety disorder which results from a traumatic experience that results in psychological trauma.
post-traumatic stress disorder
traumatic neurosis
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.
chronic Mucocutaneous Candidiasis
A female reproductive system disease that is located_in the vulva.
Eccrine nodular hidradenoma
nodular hidradenoma
Perforation of intestine
A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces.
A vulva cancer that has_material_basis in melanocytes.
malignant melanoma of vulva
malignant neoplasm of sweat gland
malignant tumor of the Sweat gland
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.
Paget's disease of vulva
Vulval Paget's disease
Vulvar Paget's disease
vulval Paget disease
A vulva carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of Vulva
adenocarcinoma of the vulva
Congenital myotonia, autosomal dominant form
A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
Thomsen disease
Thomsen's disease
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.
Infection by Isospora belli and Isospora hominis
Isosporosis
isosporiasis
Coccidiosis
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.
intestinal coccidiosis
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.
B cell (antibody) deficiencies
Immunoglobulin heavy chain deficiency
immunoglobulin heavy chain deletion
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.
FDH
FODH
Goltz syndrome
Goltz-Gorlin syndrome
A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Congenital ectodermal defect
Congenital ectodermal dysplasia
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.
A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
AT/RT
Atypical teratoid/rhabdoid tumor
Atypical teratoid/rhabdoid tumour
Rhabdoid tumor of the CNS
Rhabdoid tumour of the CNS
atypical teratoid rhabdoid tumour
rhabdoid tumor predisposition syndrome
Genitourinary tuberculosis
An extrapulmonary tuberculosis that is located_in urogenital system.
malignant ovarian surface epithelial-stromal neoplasm
An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary.
An ovarian cancer that is derives_from ovarian surface epithelium.
Ovarian Surface epithelial-Stromal tumor
A kidney cancer that affects the kidneys and typically located_in children.
Wilms' tumor
adult nephroblastoma
An ovarian cancer that originates in the germ (egg) cells of the ovary.
germ cell neoplasm of Ovary
germ cell tumor of ovary
ovarian germ cell tumor
Dental caries of smooth surface
Dental caries pit and fissure
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.
Dental caries extending into pulp
Dental caries limited to enamel
primary dental caries
simple dental cavity
A vaginal disease that is characterized by inflammation of the vagina.
A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
Ocular tumor
eye neoplasm
malignant eye neoplasm
neoplasm of eye
neoplasm of eye proper
Ca ascending colon
malignant neoplasm of right colon
malignant tumor of ascending colon
A dental enamel hypoplasia characterized by abnormal enamel formation.
A colorectal cancer that is located_in the colon.
Factor XIII deficiency disease
Hereditary factor XIII deficiency disease
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.
deficiency, Laki-Lorand factor
Hemorrhagic diathesis
Hemorrhagic disease
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.
Factor VII deficiency
deficiency, stable
Hereditary hypoproaccelerinaemia
Labile factor deficiency
Proaccelerin deficiency
deficiency, labile
Giant platelet syndrome
Hemorrhagic dystrophic thrombocytopenia
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.
Bernard - Soulier thrombopathy
Bernard Soulier syndrome
Thrombopathy, Bernard-Soulier
A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.
Thrombocytopathy
platelet disorder
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.
BDPLT2
Glanzmann thrombasthenia
Glycoprotein IIb/IIIa defect
Thrombocytasthenia
deficiency of GP IIb-IIIa complex
deficiency of glycoprotein complex IIb-IIIa
deficiency of platelet fibrinogen receptor
platelet glycoprotein IIb-IIIa deficiency
platelet-type bleeding disorder 2
thrombasthenia of Glanzmann and Naegeli
A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood.
Factor X deficiency
disease, Stuart-Prower
Dense body defect
Platelet dense granule deficiency
Platelet storage pool defect
Essential thrombocythaemia
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.
familial thrombocytosis
hemorrhagic thrombocythemia
hereditary thrombocythemia
primary Thrombocytosis
CMPD
CMPD, U
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.
chronic myeloproliferative disease
A blood platelet disease that is characterized by the presence of high platelet counts in the blood.
Thrombocythaemia
Congenital factor XI deficiency
Hereditary factor XI deficiency disease
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.
Rosenthal's disease
hemophilia C
plasma thromboplastin antecedent deficiency
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.
Factor XII deficiency disease
Hageman Factor deficiency
deficiency, Hageman
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.
localisation-related epilepsy
partial epilepsy
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).
Factor I deficiency
Fibrinogen deficiency
acute and subacute liver necrosis
acute hepatitis
acute/subac. necrosis of liver
animal hepatitis
chronic hepatitis
chronic persistent hepatitis
A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
TIA
TIA - Transient ischaemic attack
TRANSIENT ISCHEMIC ATTACK
Transient cerebral ischemia
Transient ischemic attacks
Transient cerebral ischaemia
transient ischemic attack
Spondylogenic compression of lumbar spinal cord
Spondylogenic compression of thoracic spinal cord
Spondylosis with myelopathy
Thoracic or lumbar spondylosis with myelopathy
An bone structure disease that involves degeneration between vertebra located_in vertebral column.
Lumbar spondylosis with myelopathy
lumbosacral spondylosis without myelopathy
spondylosis with myelopathy
A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
A uterine disease that is located_in the cervix.
A bone development disease that results_in defective development of cartilage or bone.
Congenital anomaly of cartilage
Cartilage Development disorder
Osteochondrodysplasia syndrome
chondrodystrophy
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.
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.
Candidal vulvovaginitis
Candidal: cervix
Candidiasis of vulva and vagina
Monilial vulvovaginitis
Vulvovaginal Candidiasis
Inflamed throat
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.
Persistent sore throat
Pharyngeal disorder
Pharyngitis - acute
Sore throat - chronic
acute pharyngitis
acute sore throat
chronic pharyn/nasopharyngitis
chronic pharyngitis
chronic pharyngitis and nasopharyngitis
chronic sore throat
pharyngeal disease
An endocrine system disease that is located_in the gonads.
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.
Acne inversa, familial
Hidradenitis suppurativa
Hydradenitis
A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain.
Hidradenitis
A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes.
Fort Bragg fever
Leptospirosis icterohaemorrhagica
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.
Rat Catcher's Yellows
Weil's disease
nanukayami fever
spirochetal jaundice
A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs.
adult-onset primary lateral sclerosis
primary lateral sclerosis
A bone structure disease that involves a defect located_in lumbar vertebral column.
A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking.
Stereotyped repetitive movements
Stereotypy habit disorder
A neurodegenerative disease that is located_in the motor neurones.
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.
Nocardia infectious disease
An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.
Ischaemic encephalopathy
Ischemic encephalopathy
cerebral ischemia
A lung disease that is characterized by narrowing of pulmonary airways.
respiratory airway obstruction
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.
cholera morbus
infectious colitis, enteritis and gastroenteritis
A jaw cancer and mandibular disease that affects your lower jawbone.
malignant neoplasm of inferior maxilla
malignant neoplasm of lower Jaw bone
malignant neoplasm of mandible
mandible cancer
mandibular neoplasm
neoplasm of mandible
A synostosis that results_in premature fusion located_in skull.
Premature closure of cranial sutures
Polyclonal hypergammaglobulinemia
An inherited metabolic disorder that involves plasma protein metabolism malfunction.
Cardiovascular arteriosclerosis
Arteriosclerosis
Arteriosclerotic vascular disease
An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
An intestinal benign neoplasm that is located_in the colon.
Colonic tumor
Colonic Mass
colon neoplasm
neoplasm of colon
Iron disorder
disorder of iron metabolism
iron disorder
A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
Haemochromatosis
diabetes bronze
iron storage disorder
An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas.
ANEMIA LEUKOERYTHROBLASTIC
Anemia, leukoerythroblastic
Leukoerythroblastosis
myelophthisis
A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
anaemia
ANEMIA MACROCYTIC
Macrocytic anaemia
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.
West Nile Fever with encephalitis
West Nile fever encephalitis
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.
A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides.
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.
Congenital elliptocytosis
ovalocytosis
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.
Generalized multiple sclerosis
insular sclerosis
A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction.
bilirubin encephalopathy
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.
neonatal hyperbilirubinemia
neonatal icterus
Wernicke's encephalopathy
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).
Wernicke's disease
renal vascular disease
vascular disorder of kidney
A female reproductive organ cancer that is located_in the ovary.
malignant Ovarian tumor
malignant tumour of ovary
ovarian neoplasm
ovary neoplasm
primary ovarian cancer
tumor of the Ovary
neoplasm of granular cell
Cutaneous Ganglioneuroma
Ganglioneuroma of skin
A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells.
neoplasm of skin with adnexal differentiation
neoplasm of the skin Appendage
skin appendage tumour
dermis tumour
neoplasm of Dermis
tumor of dermis
tumour of dermis
A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
Protein S deficiency
Protein S deficiency disease
A blood coagulation disease that is characterized by an increased tendency to form clots.
hypercoagulability state
retina circulation disorder
A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
mental or behavioural disorder
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.
Opportunistic mycoses
Opportunistic mycosis
opportunistic systemic mycoses
chronic Conjunctivitis
HSMN - Hereditary sensory and motor neuropathy
Hereditary motor and sensory neuropathy
HSMN
neuropathic muscular atrophy
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.
Vertigo of central origin
central vestibular vertigo
A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea.
leiomyoma of the Trachea
Phosphorus disorder
disorder of phosphorus metabolism
phosphorus metabolism disorder
congenital neurologic anomaly
A neuropathy that involves damage to nerves of the peripheral nervous system.
Sensory neuropathy
peripheral Sensory Neuropathy
sensory neuropathy
Watermelon stomach
A vascular disease that is characterized as a small vascular malformation of the gut.
angiodysplasia of stomach and duodenum with hemorrhage
Senile hemangioma
Senile naevus of skin
generalized erosion
localized erosion
Aortic Arch syndrome
A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
Aortic arch arteritis
Aortic arch syndrome
Idiopathic aortitis
Takayasu arteritis
Takayasu's disease
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.
NBCCS
Gorlin syndrome
basal cell nevus syndrome
Basal cell carcinoma of skin
Basal cell neoplasm
Basal cell cancer
Epithelioma basal cell
Basal cell tumor
Rodent ulcer
malignant Basal cell neoplasm
malignant basal cell tumor
Inflammation of testis
Orchititis
disorder of testis
testis disorder
An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal.
Alcoholic psychoses
A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.
Dyssplenism
Spleen disease
An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
Hematologic malignancy
Hematologic neoplasm
Hematological tumors
blood cancer
hematopoietic and lymphoid system tumor
hematopoietic cancer
hematopoietic neoplasm
hematopoietic tumors
malignant hematopoietic neoplasm
Splenic infarct
Splenic infarction
chronic inflammatory demyelinating polyneuritis
acquired epileptic aphasia
An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe.
Extratemporal epilepsy
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.
Chondromalacia, systemic
A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.
A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint.
A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.
Opioid type dependence
An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.
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.
Fehr corneal dystrophy
MACULAR DYSTROPHY, CORNEAL, 1
A cervix disease that is characterized by inflammation of the cervix.
A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
Histiocytosis X
Langerhan's cell histiocytosis
Langerhans cell granulomatosis
Letterer-Siwe disease
Letterer-Siwe disease involving intra-abdominal lymph nodes
Letterer-Siwe disease involving intrapelvic lymph nodes
Letterer-Siwe disease involving intrathoracic lymph nodes
Letterer-Siwe disease involving lymph nodes of axilla and upper limb
Letterer-Siwe disease involving lymph nodes of head, face and neck
Letterer-Siwe disease involving lymph nodes of head, face, and neck
Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb
Letterer-Siwe disease involving lymph nodes of multiple sites
Letterer-Siwe disease involving spleen
Letterer-Siwe disease of intra-abdominal lymph nodes
Letterer-Siwe disease of intrapelvic lymph nodes
Letterer-Siwe disease of intrathoracic lymph nodes
Letterer-Siwe disease of lymph nodes of axilla and upper limb
Letterer-Siwe disease of lymph nodes of axilla and/or upper limb
Letterer-Siwe disease of lymph nodes of head, face and neck
Letterer-Siwe disease of lymph nodes of head, face and/or neck
Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb
Letterer-Siwe disease of lymph nodes of inguinal region and lower limb
Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb
Letterer-Siwe disease of lymph nodes of multiple sites
Letterer-Siwe disease of spleen
A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.
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.
Chondrodysplasia Punctata, Rhizomelic Form
A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
Chondrodysplasia punctata congenita
deficiency of catalase
A B cell deficiency that is caused by a reduction in all types of gamma globulins.
IGHM
hypogammaglobulinemia
mu heavy chain deficiency
Ca larynx - glottis
malignant tumor of glottis
malignant tumor of the Glottis
A respiratory system cancer that is located_in the larynx.
laryngeal tumor
larynx neoplasm
neoplasm of larynx
Glottic carcinoma
carcinoma of glottis
An endocrine system disease that is located_in the pancreas.
A larynx cancer that has_material_basis_in epithelial cells.
cancer of Larynx
cancer of larynx
carcinoma of larynx
A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.
central Chondroma
A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue.
papillomatosis
A kidney cancer which is manifested in the kidney.
hemangiopericytoma of kidney
renal hemangiopericytoma
A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
tumor of Autonomic nervous system
childhood choroid plexus papilloma
A urinary system cancer that is located_in the kidney.
malignant neoplasm of kidney except pelvis
malignant tumour of kidney
renal cancer
Cystoma
Cystadenoma
An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary.
benign ovarian Brenner tumor
benign ovarian Brenner tumour
ovarian Brenner tumour
A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures.
Pericanalicular Fibroadenoma of breast
Pericanalicular fibroadenoma
Haemangiopericytic meningioma
A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.
hemangiopericytoma, malignant
malignant hemangiopericytoma
An ovarian germ cell monodermal and highly specialized teratoma that is composed either exclusively or predominantly of thyroid tissue.
Struma ovarii
ovarian germ cell monodermal and highly specialized teratoma
A monodermal teratoma that has_material_basis in germ cells that are highly specialized and is located_in the ovary.
Ovarian Monodermal and Highly Specialized teratoma
PEComa
neoplasm with Perivascular epithelioid cell differentiation
A cell type benign neoplasm that has_material_basis_in mesothelium.
benign tumor of Mesothelium
Sebaceous adenoma
adenoma of the Sebaceous gland
skin appendage sebaceous adenoma
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.
Chondroblastoma of bone
A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm).
Dermoid tumour
Mature cystic teratoma
cystic dermoid choristoma
Dermoid choristoma
teratoma, benign
A benign teratoma that is characterized by the presence of cysts or cystic spaces.
A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland.
Myoepithelial neoplasm
Myoepithelial adenoma
benign myoepithelioma
Sweat gland tumor
neoplasm of sweat gland
tumor of the Sweat gland
A carcinoma that derives_from transitional epithelial cells.
transitional carcinoma
transitional cell neoplasm
transitional cell tumor
urothelial cell carcinoma
multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour
A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium.
Dysembryoplastic Neuroepithelial neoplasm
Dysembryoplastic neuroepithelial tumor
Dysembryoplastic neuroepithelial tumour
dysembryoplastic neuroepithelial tumour
A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands.
Ossifying Fibromyxoma
Ossifying fibromyxoid tumor
Ossifying fibromyxoid tumour
ossifying fibromyxoid tumour
Lymphangiosarcoma of Stewart and Treves
A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels.
Stewart-Treves syndrome
malignant Lymphangioendothelioma
skin lymphangiosarcoma
A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells.
benign neoplasm of the Muscle
A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.
Leydig cell neoplasm
renal cell adenoma
Metanephric adenofibroma
A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver.
hepatic sarcoma
Synovioma, benign
benign synovioma
benign tumor of Synovium
localized Giant cell tumor of Tenosynovium
Diffuse Giant cell tumor of Tenosynovium
villous tenosynovitis
A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
malignant tumor of Synovium
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.
Tight foreskin
Tight frenulum
A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
Bloom-Torre-Machacek syndrome
Congenital Telangiectatic Erythema syndrome
A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity.
A vascular disease that is located_in the liver.
vascular disorder of liver
A dermatitis that selectively affects the hands and feet.
A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
eczema
skin inflammation
Capillary hemangioma
Congenital vascular hamartoma
Congenital vascular naevus
Infantile hemangioma
Juvenile hemangioma
Strawberry haemangioma
Strawberry nevus
Strawberry nevus of skin
cellular hemangioma of Infancy
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.
Xref MGI. OMIM mapping by NeuroDevNet. [LS].
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.
Epidermolysis bullosa
acantholysis bullosa
A skin disease that is characterized by fluid filled blisters.
Congenital poikiloderma
RTS
Atrophoderma
Atrophy - skin
atrophic condition of skin
DARIER-WHITE DISEASE
Darier's disease
Keratosis follicularis
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.
Cheney syndrome
HJCYS
SFPKS
acroosteolysis with osteoporosis and changes in skull and mandible
arthrodentoosteodysplasia
serpentine fibula-polycystic kidney syndrome
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.
Gronblad-Strandberg syndrome
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
Constitutional hyperbilirubinemia
Gilbert's disease
Gilbert's syndrome
Gilbert-Meulengracht syndrome
hereditary nonhemolytic jaundice
An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
hereditary hyperbilirubinemia
hyperbilirubinaemia
hyperbilirubinemia
A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
ear and mastoid disease
A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity.
Glycogen storage disease, type V
McArdle's disease
glycogen storage disease type V
myophosphorylase deficiency
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.
glycogenoses
glycogenosis
Amylopectinosis
Branching-transferase deficiency glycogenosis
Glycogen storage disease, type IV
brancher deficiency glycogenosis
deficiency of 1,4-alpha-glucan branching enzyme
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.
Generalized glycogenosis
Glycogen storage disease, type II
Glycogenosis, type 2
Lysosomal alpha-1,4-glucosidase deficiency
Pompe's disease
acid maltase deficiency
deficiency of glucoamylase
deficiency of maltase
glycogen storage disease type II
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.
Infection due to Mycobacterium intracellulare
MAC disease
Mycobacterium Avium Infection
Mycobacterium avium Complex
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.
Irritant Contact Dermatitis
Irritant contact dermatitis
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.
primary irritant dermatitis
Contact dermatitis
Contact eczema
Dermatitis, venenata
Contact dermatitis/eczema
dermatitis venenata
A bone cancer that is located_in almost exclusively in the long bones.
A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin.
pulmonary sarcoma
A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.
Atresia of foramina of Magendie and Luschka
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.
A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
mastigophora infectious disease
sarcomastigophora infectious disease
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.
A pneumonia located_in the lung parenchyma of unknown cause.
Diffuse idiopathic pulmonary fibrosis
IPF
Idiopathic fibrosing alveolitis
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.
Bronchiolitis exudativa
Bronchiolitis fibrosa obliterans
Obliterative bronchiolitis
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.
malignant neoplasm of cranial nerve
malignant neoplasm of cranial nerves
malignant tumor of cranial nerve
malignant tumor of the Cranial nerve
disorder of the nose
nasal disorder
acute acalculous cholecystitis
acute cholecystitis without calculus
cholecystitis without calculus
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.
Exercise induced asthma
bronchial hyperreactivity
chronic obstructive asthma
chronic obstructive asthma with acute exacerbation
chronic obstructive asthma with status asthmaticus
exercise-induced asthma
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).
LQT
Romano-Ward syndrome
long Q-T syndrome
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.
A thyroid gland disease that is characterized by elevated thyroxine levels in the blood.
Euthyroid sick syndrome
Sick-euthyroid syndrome
hemoglobinopathies
glucosephosphate dehydrogenase deficiency
A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
Glucose-6-phosphate dehydrogenase deficiency
deficiency of G-6PD
An endometrial carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of endometrium
adenocarcinoma of the Endometrium
adenocarcinoma of uterus
endometrial adenoacanthoma
endometrial endometrioid adenocarcinoma
endometrial endometrioid adenocarcinoma with squamous differentiation
endometrioid adenoma or carcinoma
endometrioid adenomas and carcinomas
endometrioid carcinoma of Endometrium
A endometrial cancer that is located_in the tissue lining the uterus.
carcinoma of the Endometrium
endometrioid carcinoma
endometrioid carcinoma of female Reproductive system
A laryngeal carcinoma that has_material_basis_in squamous cells.
Epidermoid carcinoma of the Larynx
squamous cell carcinoma of larynx
A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium.
Endometriosis interna
Endometriosis of myometrium
Endometriosis, myometrium
adenomyosis
uterine Adenomyosis
A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate.
adenoma - prostate
adenoma of prostate
benign adenoma of prostate
prostate adenoma
A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.
An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells.
adenoma of thyroid gland
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.
cancer of cervix
carcinoma cervix uteri
carcinoma of cervix
carcinoma of the Cervix Uteri
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.
Facio-auriculo-vertebral spectrum
First AND second branchial arch syndrome
First arch syndrome
HEMIFACIAL MICROSOMIA
OAV (oculoauriculovertebral) dysplasia
Otomandibular dysostosis
A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
Franceschetti syndrome
Mandibulofacial dysostosis
mandibulofacial dysostosis
PANCREATITIS NECROTIZING
acute necrotizing pancreatitis
A disease of anatomical entity that is located_in the immune system.
hypersensitivity reaction type IV disease
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.
immunoproliferative disease
A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
CRYOGLOBULINEMIA
Cryoimmunoglobulinaemia
lacrimal system neoplasm
neoplasm of lacrimal system
tumor of the lacrimal system
membranoproliferative glomerulonephritis
Lobular glomerulonephritis
chronic glomerulonephritis, lobular
A nephritis that causes inflammation of the glomeruli located_in kidney.
A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Haemangiectatic hypertrophy
Klippel-Trenaunay-Weber syndrome
angioosteohypertrophy syndrome
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.
Newcastle's disease
Pseudo-fowlpest
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene.
CHS
Chediak - Steinbrinck anomaly
malignant neoplasm of lacrimal gland
malignant tumour of lacrimal gland
neoplasm of lacrimal gland
tumor of the lacrimal gland
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.
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.
SARS
SARS-CoV infection
Travel Sickness
labyrinthine disease
A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.
A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
IBIDS syndrome
Tay syndrome
sulfur-deficient brittle hair syndrome
trichothiodystrophy with congenital ichthyosis
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.
Cockayne's syndrome
Neill-Dingwall syndrome
carcinoma ex pleomorphic adenoma
carcinoma in pleomorphic adenoma
renal Cyst
A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.
An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
disorder of carbohydrate transport and metabolism
inborn carbohydrate metabolism disorder
inborn errors of carbohydrate metabolism
Suppression of urinary secretion
A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
Berger's IgA or IgG nephropathy
Focal Glomerulonephritis
IGA glomerulonephritis
IgA nephropathy
primary IgA nephropathy
segmental glomerulonephritis
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.
benign paroxysmal peritonitis
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).
antiphospholipid antibody syndrome
Antiphospholipid syndrome
A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells.
germ cell neoplasm
germ cell tumour
malignant tumor of the germ cell
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.
A male reproductive system cancer that is located_in the testicles.
childhood neoplasm of the testis
neoplasm of testis
pediatric testicular neoplasm
testicular tumor
testis cancer
testis neoplasm
A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.
Granulosa cell neoplasm
Granulosa cell tumour, sarcomatoid
Granulosa cell tumor, adult type
malignant granulosa cell neoplasm
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.
A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast.
Lobular Intraepithelial Neoplasia
lobular carcinoma in situ
A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
Li-Fraumeni Familiar cancer Susceptibility syndrome
SBLA syndrome
sarcoma, breast, leukaemia and adrenal gland syndrome
A breast benign neoplasm that is located_in the breast ducts.
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).
Phyllodes breast neoplasm
Phyllodes tumor, malignant
breast malignant phyllodes tumour
malignant Mammary Phyllodes tumor
malignant Mammary Phyllodes tumour
malignant Phyllodes neoplasm
malignant cystosarcoma phyllodes
malignant phyllodes tumor
malignant phyllodes tumor of breast
malignant phyllodes tumour
malignant phyllodes tumour of breast
phyllodes breast tumor
phyllodes breast tumour
A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells.
sarcoma of breast
A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.
acinic cell carcinoma
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.
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
Mucin-Secreting adenocarcinoma
Mucin-Secreting carcinoma
Mucin-producing adenocarcinoma
Mucous carcinoma
Pseudomyxoma peritonei with unknown primary site
mucin-producing adenocarcinoma
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.
A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
food hypersensitivity
Allergic Granulomatous Angiitis
Allergic granulomatosis angiitis
Churg-Strauss vasculitis
A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
epithelial cancer
epithelioma
malignant Epithelioma
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.
Paratyphoid
Paratyphoid A fever
Paratyphoid B fever
Paratyphoid C fever
Paratyphoid Fever A
Paratyphoid Fever B
Paratyphoid Fever C
Paratyphoid fever A
Paratyphoid fever B
Paratyphoid fever C
paratyphoid a
paratyphoid b
paratyphoid c
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.
GBM
adult glioblastoma multiforme
grade IV adult Astrocytic tumor
primary glioblastoma multiforme
spongioblastoma multiforme
astrocytoma of Cerebrum
astrocytoma of brain
astroglioma
cerebral astrocytoma
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.
Astrocytic tumor
Astrocytoma, NOS
A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.
Neuroglial tumor
glial cell tumor
glioma, malignant
malignant Neuroglial tumor
Glioblastoma with sarcomatous component
A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.
Epileptic seizures, myoclonic
Myoclonic seizure disorder
Epileptic seizures - myoclonic
Myoclonic seizure
myoclonia epileptica
myoclonic epilepsy
cystic Hygroma
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.
ILD
COLD
An obstructive lung disease that is characterized by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease.
COPD
chronic obstructive airway disease
chronic obstructive lung disease
Gingival enlargement
acute gingivitis
chronic gingivitis
An organ system cancer located_in the nervous system that affects the central or peripheral nervous system.
malignant neoplasm of nervous system
neoplasm of nervous system
nervous system neoplasm
neural neoplasm
neural tumor
tumor of the nervous system
A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells.
germ cell and embryonal neoplasm
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.
TOS - Thoracic outlet syndrome
A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia.
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.
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.
Infiltrating and papillary adenocarcinoma
Papillary adenocarcinoma
infiltrating papillary adenocarcinoma
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
serous adenocarcinoma
serous carcinoma
renal and ureteral tumor
A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
hepatobiliary tumors
A gastrointestinal system disease that is located_in the liver and/or biliary tract.
liver and biliary tract disease
An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
GI tumor
digestive system cancer
gastrointestinal tract cancer
A biliary tract cancer that is located_in the gallbladder.
gallbladder Ca
gallbladder neoplasm
localized malignant gallbladder neoplasm
malignant neoplasm of gallbladder
malignant tumor of the gallbladder
malignant tumour of gallbladder
tumor of the gallbladder
gastric outflow obstruction
A syndrome that is characterized by tumors in at least two endocrine glands.
Multiple endocrine adenomatosis
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.
Nontraumatic tear of anus
Solitary anal ulcer
Ulcer of anus
anal disease
anal fissure
anal fissure and fistula
anal ulcer
fissure in ano
An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
hepatic porphyria
Dermatosis of scalp
AN - Acanthosis nigricans
Acanthosis nigricans
Keratosis nigricans
keratosis nigricans
A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue.
Cutis laxa
A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
loose skin
An inherited metabolic disorder that involves the creation and degradation of lipids.
dyslipidemia
fatty acid metabolism disorder
neoplasm of skin
neoplasm of skin by site
skin neoplasm
tumor of the skin
A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.
Epidermoid cell tumor
squamous cell tumor
Papillary adenoma
glandular papilloma
Cutaneous papilloma
cutaneous papilloma
papilloma of skin
Inverted papilloma, squamous cell
Inverted papilloma
Pure progressive muscular atrophy
progressive spinal muscular atrophy
oligodendroglial neoplasm
oligodendroglial tumor
A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells.
Glial neoplasm Spinal Cord
Glial tumor of spinal cord
glioma of spinal cord
myelopathy
Nemaline body disease
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.
nemaline rod myopathy
rod myopathy
A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.
Psammomatous schwannoma
schwannoma
A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves.
neoplasm of the nerve Sheath
nerve sheath tumour
A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopotine angle.
Cerebellopontine angle tumor
Cerebellopontine angle tumour
cerebellopontine angle tumour
neoplasm of the Cerebellopontine Angle
Melanotic Schwannoma
Pigmented Neurilemmoma
Pigmented schwannoma
Melanotic neurilemmoma
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.
congenital junctional epidermolysis bullosa
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.
HTLV-associated myelopathy
Tropical spastic paralysis
Tropical spastic paraplegia
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.
HLD1
PMD
Pelizaeus Merzbacher brain sclerosis
Leukodystrophy, sudanophilic
Pelizaeus-Merzbacher brain sclerosis
diffuse familial brain sclerosis
hypomyelinating leukodystrophy 1
sudanophilic leukodystrophy, Paelizeus-Merzbacher type
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
disorder of lysosomal enzyme
inborn lysosomal enzyme disorder
lysosomal storage metabolism disorder
A neurodegenerative disease that is characterized by damage to the myelin sheath present around nerve axons.
demyelinating disorder
A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord.
Complex regional pain syndromes
Stenosis of trachea
stomach dilatation
A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.
Microglioma
primary CNS lymphoma
Chemical pneumonitis
Mendelson's Syndrome
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.
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.
Lipoid pneumonitis
Exogenous lipoid pneumonia
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.
A skeletal muscle cancer that arise from skeletal muscle progenitors.
A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate.
Rhabdomyosarcoma of the prostate
A vascular disease that is characterized by a restriction in blood supply to tissues.
hyper IgE recurrent infection syndrome 1
A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
Job syndrome
Job's syndrome
hyperimmunoglobulin E syndrome
A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.
phagocytic dysfunction
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.
PIEBALD TRAIT
Partial albinism
Bridges-Good syndrome
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.
CGD
Congenital dysphagocytosis
Quie syndrome
An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.
Cystoma Serosum simplex
simple cystoma of ovary
simple cystoma of the ovary
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.
An immune system cancer located_in the thymus.
Thymic tumor
neoplasm of thymus
thymic neoplasm
epithelioid Thymoma
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.
Thymic carcinoma
Thymoma, malignant
malignant Thymoma
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.
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.
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).
A notochordal cancer that derives_from cellular remnants of the notochord.
notochordoma
An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord.
notochordal tumor
A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both.
Teratocarcinoma
mixed Embryonal carcinoma and teratoma
A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
primary extragonadal embryonal carcinoma
A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
Besnier's prurigo
Atopic dermatitis
Atopic neurodermatitis
allergic dermatitis
atopic eczema
A mood disorder that involves alternating periods of mania and depression.
Depressive-manic psych.
Manic Depressive disorder
Manic Bipolar Affective disorder
Manic bipolar I disorder
bipolar depression
bipolar disorder manic phase
manic depression
manic disorder
mixed bipolar disorder
Angiomyolipoma
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.
A cell type benign neoplasm that is composed of lipocytes.
LIPOMATOSIS, FAMILIAL MULTIPLE
Lipomatous neoplasm
Lipomatous tumor
benign lipomatous tumor
benign tumor of Adipose tissue
multiple lipomatosis
tumor of adipose tissue
malignant perivascular cancer
A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.
lung lymphangioleiomyomatosis
lymphangiomyomatosis
pulmonary lymphangioleiomyomatosis
ALS
Lou Gehrig's disease
A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
motor neuron disease, bulbar
GM2 gangliosidosis, type 1
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.
hexosaminidase A deficiency
A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
gangliosidosis GM2
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.
Sandhoff Jatzkewitz disease
A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.
episodic mood disorder
Purpuric disorder
benign epilepsy with centrotemporal spikes
BCECTS
benign Rolandic epilepsy
benign childhood epilepsy with centrotemporal spike
rolandic epilepsy
sylvan seizures
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.
A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone.
Osteitis fibrosa cystica generalisata
Von Recklinghausen's bone disease
hyperparathyroid bone disease
A bone disease that results_in inflammation of the located_in bone.
Inflammatory disorder of bone
bone inflammatory disease
osteitis
A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
Mucolipidosis type I
sialidosis
A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.
xanthelasmatosis
A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin.
Skeletal sarcoma
Osteogenic sarcoma
bone tissue neoplasm
osteoid sarcoma
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.
benign miscellaneous mesenchymal tumor
mesenchymal tumor
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.
Fibrocytic tumor
fibrosarcoma of soft tissue
fibrous tissue neoplasm
localised Osteogenic sarcoma
localised osteosarcoma
localized Osteogenic sarcoma
Aneurysm of coronary vessels
Aneurysmal lesion of coronary artery
Arteriovenous aneurysm of coronary vessels
A connective tissue cancer that has_material_basis in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.
Ewing's family localized tumor
Ewing's sarcoma/peripheral primitive neuroectodermal tumor
Ewing's tumor
Ewings sarcoma
Ewings sarcoma-primitive neuroectodermal tumor
PNET of Thoracopulmonary Region
localized Ewing sarcoma
localized Ewing's sarcoma
localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor
localized Ewing's tumor
localized peripheral primitive neuroectodermal tumor
peripheral primitive neuroectodermal tumor
Cartilaginous cancer
A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.
chondrosarcoma of bone
primary chondrosarcoma of the bone
Parosteal Osteogenic sarcoma
Parosteal Osteosarcoma
Surface Osteosarcoma
Osteosarcoma of bone
primary Osteosarcoma of bone
Round cell osteosarcoma
small cell Osteosarcoma
Medullary Osteosarcoma
Medullary osteosarcoma
conventional Osteosarcoma
A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.
neoplasm of cranial nerve
A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities.
A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.
A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.
Periodontal disease
disease of supporting structures of teeth
periodontium disorder
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.
Papillon Lefevre syndrome
Papillon-Lefvre syndrome
A keratosis characterized by abnormal thickening of the palms and the soles.
Palmoplantar Keratoderma
Keratosis palmaris et plantaris
Coronary disease
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.
CHD
coronary heart disease
coronary arteriosclerosis
syndrome of Inappropriate Antidiuretic Hormone Secretion
syndrome of inappropriate secretion of ADH
syndrome of inappropriate secretion of antidiuretic hormone
syndrome of inappropriate vasopressin secretion
A lymphatic system disease that is characterized by an excessive number of histiocytes.
Hand Schuller Christian disease
chronic Histiocytosis X
disorder of carotid artery
A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain.
arterial occlusive disease
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.
Alpha-D-mannosidosis
alpha-mannosidase deficiency
deficiency of alpha-mannosidase
A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla.
ninth cranial nerve disease
Tumour of optic nerve
neoplasm of optic nerve
tumor of Second Cranial nerve
Vertigo, vestibular disorder
A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
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.
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.
Paget cell neoplasm
Paget's disease
Paget's disease of the breast
mammary Paget disease
Paget's disease of anus
Paget's disease of the anus
anal Paget disease
An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
adenocarcinoma of anus
adenocarcinoma of the anus
Penile carcinoma
A penile cancer that is located_in the skin or tissues of the penis.
carcinoma of penis
A female reproductive system disease that is located_in the uterus.
A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
carcinoma of skin
A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.
A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.
Lobular carcinoma
Lobular carcinoma of breast
Lobular carcinoma of the breast
A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
Mammary adenocarcinoma
adenocarcinoma of breast
A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Mammary carcinoma
carcinoma of breast
A thoracic disease that is located_in the breast.
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.
Uveal tumor
malignant Uveal tumor
malignant uvea neoplasm
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.
An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid.
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.
SMCD - systemic mast cell disease
systemic tissue mast cell disease
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
Turner's phenotype, karyotype normal
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.
Bonnevie-Ullrich syndrome
Gonadal dysgenesis - Turner
Karyotype 45, X
Monosomy X
XO syndrome
monosomy X syndrome
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.
Connective tissue disease overlap syndrome
mixed collagen vascular disease
An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance.
Signet ring carcinoma
Signet Ring cell adenocarcinoma
Signet ring cell carcinoma
A pancreatic adenocarcinoma that derives_from pancreatic duct cells.
ductal adenocarcinoma of the pancreas
mast cell hyperplasia
A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.
MESH:C538219 added from NeuroDevNet [WAK].
Neurosarcoma
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.
CVA - Cerebral infarction
Cerebral infarct
Cerebral infarction
central core disease
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.
Unverricht - Lundborg disease
Unverricht's disease
Unverricht-Lundborg disease
A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain.
choroid plexus neoplasm
tumor of choroid plexus
tumor of the Choroid Plexus
A cerebrum cancer that is located_in the cerebral ventricles.
Intraventricular tumor of brain
cerebral ventricle neoplasm
A sarcoma that has_material_basis in mast cells.
Superior mesenteric artery syndrome
An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.
Pseudomyxoma peritonei
mucinous Ascites
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.
intracranial meningioma
meningeal neoplasm
meningothelial cell tumor
neoplasm of the meninges
primary Meningeal tumor
supratentorial meningioma
A hepatobiliary system cancer that is located_in the liver.
Ca liver - primary
ca liver - primary
Resectable malignant neoplasm of Liver
hepatic cancer
hepatic neoplasm
malignant hepato-biliary neoplasm
malignant neoplasm of liver
malignant neoplasm of liver, not specified as primary or secondary
malignant neoplasm of liver, primary
malignant tumor of liver
neoplasm of liver
non-resectable primary hepatic malignant neoplasm
primary liver cancer
primary malignant neoplasm of Liver
primary malignant neoplasm of liver
resectable malignant neoplasm of the liver
Thrombosis of lateral venous sinus
Thrombosis transverse sinus
Thrombosis of superior longitudinal sinus
Thrombosis of superior sagittal sinus
A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells.
tubular androblastoma
gestational trophoblastic neoplasia
hydatidiform mole
molar pregnancy
Chorioepithelioma
A placenta cancer that has_material_basis_in trophoblastic cells.
A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells.
Placental site trophoblastic tumor
Placental site trophoblastic tumour
Placental-Site Gestational Trophoblastic neoplasm
placental site trophoblastic tumour
A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.
neurotoxicity
neurotoxicity syndrome
A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
Pseudomucinous cystadenocarcinoma
An ovarian cystadenocarcinoma that is characterized by the presence of mucin.
Ovarian mucinous cystadenocarcinoma
mucinous cystadenocarcinoma of ovary
An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces.
cystadenocarcinoma of ovary
cystadenocarcinoma of the Ovary
An ovary adenocarcinoma that is characterized by the presence of mucin.
mucinous carcinoma of Ovary
An appendix carcinoma that derives_from epithelial cells of glandular origin.
Appendiceal adenocarcinoma
A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix.
Endometriosis of cervix
cervical Endometriosis
CANAVAN-VAN BOGAERT-BERTRAND DISEASE
Spongy degeneration of central nervous system
A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
Hypogonadism with anosmia
Kallman syndrome
Kallman's syndrome
familial hypogonadism with anosmia
A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
A nervous system cancer that is located_in the central nervous system.
CNS neoplasm
central nervous system tumor
central nervous system tumors
malignant neoplasm of central nervous system
malignant tumor of CNS
neoplasm of central nervous system
An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
ruptured aortic aneurysm
A female reproductive organ cancer that is located_in the uterus.
CA - cancer of uterus
Tumour of uterus
malignant neoplasm of uterus
malignant uterine tumor
neoplasm of uterus
uterine tumor
uterus neoplasm
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.
Beta-D-mannosidosis
beta-mannosidase deficiency
lysosomal beta-mannosidase deficiency
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).
A teratoma that is located_in the central nervous system.
CNS teratoma
Empty sella syndrome
Pituitary necrosis
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.
deficiency of pyruvic dehydrogenase
pyruvate dehydrogenase complex deficiency disease
pyruvate dehydrogenase deficiency
A urinary system disease that is located_in the bladder.
Urinary Bladder Disease
A metabolic acidosis characterized by buildup of lactate.
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.
Infantile necrotizing encephalomyelopathy
Leigh syndrome
juvenile subacute necrotizing encephalomyelopathy
subacute necrotizing encephalomyelopathy
A lysosomal storage disease characterized by increased sialic acid in the urine.
OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
neoplasm of olfactory nerve
tumor of Olfactory nerve
A hematologic cancer that has_material_basis_in mast cells.
Mast cell Proliferative disease
mast cell tumor
mastocytoma
Charcot's syndrome
Intermittent claudication
A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system.
Rhabdoid sarcoma
malignant rhabdoid tumour
rhabdoid tumor
pediatric renal tumor
A supratentorial cancer that is located_in the cerebrum.
cerebral cancer
neoplasm of cerebrum
tumor of Cerebrum
tumor of the lung
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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.
Brachial neuritis
Parsonage-Aldren-Turner syndrome
Asthesioneuroblastoma
Esthesioneuroblastoma
Esthesioneuroepithelioma
Olfactory Esthesioneuroblastoma
paranasal sinus Olfactory neuroblastoma
Brachial plexus disorder
brachial plexopathy
An integumentary system disease that is located_in skin.
Genodermatosis
skin and subcutaneous tissue disease
A fallopian tube carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the fallopian tube
A bladder carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of bladder
adenocarcinoma of the urinary bladder
bladder adenocarcinoma, Not Otherwise Specified
An ovarian carcinoma that derives_from epithelial cells of glandular origin.
Ovarian adenocarcinoma
adenocarcinoma of the ovary
ovarian adenoacanthoma
A stomach carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of stomach
stomach adenocarcinoma
Myeloma - solitary
Myeloma, solitary
Solitary myeloma
Solitary plasmacytoma
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.
Infection by Theileria
theileriosis
A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium.
Warty carcinoma
verrucous squamous carcinoma
verrucous squamous cell carcinoma
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.
Nutritional disorder
A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
squamous cell carcinoma of cervix
squamous cell carcinoma of the Cervix Uteri
An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
SCC of esophagus
SCC of oesophagus
oesophagus squamous cell carcinoma
verrucous carcinoma of the Larynx
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
A thrombophilia that is characterized by the tendency to form clots in the veins.
AT III deficiency
hereditary thrombophilia due to congenital antithrombin deficiency
A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
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).
Indeterminate sex and pseudohermaphroditism
A vaginal discharge that is characterized by a whitish or yellow color.
Leukorrhea of vagina
discharge - leukorrhea
A vaginal disease that is characterized by the presence of discharge.
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.
Fibrosis of lung
Chordoid glioma
An ovarian disease that is characterized by the absence of ovulation.
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.
Preauricular cyst
Preauricular sinus and fistula
Preauricular sinus or fistula
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.
Empyema
Empyema of pleura
Empyema of pleura without fistula
Empyema with fistula
Empyema with no fistula
Empyema with pleural fistula
Empyema without mention of fistula
Empyema, chest
Pleural empyema with fistula
Purulent pleurisy
Thorax abscess
abscess of pleural cavity
abscess of thorax
empyema
empyema with fistula
lung empyema
pleural empyema with no fistula
purulent pleuritis
pyothorax
A bone disease that is located_in the joint.
Ankylosis of joint of ankle and/or foot
Ankylosis of joint of forearm
Ankylosis of joint of hand
Ankylosis of joint of lower leg
Ankylosis of joint of multiple sites
Ankylosis of joint of upper arm
Ankylosis of multiple joints
Ankylosis of joint of shoulder region
Infectious arthropathy
Joint ankylosis of the ankle and foot
Joint ankylosis of the ankle and/or foot
Joint ankylosis of the forearm
Joint ankylosis of the hand
Joint ankylosis of the lower leg
Joint ankylosis of the pelvic region and thigh
Joint ankylosis of the shoulder region
Joint ankylosis of the upper arm
ankylosis of ankle and foot joint
ankylosis of forearm joint
ankylosis of hand joint
ankylosis of joint of multiple sites
ankylosis of joint of pelvic region and thigh
ankylosis of joint of shoulder region
ankylosis of lower leg joint
ankylosis of upper arm joint
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.
Photoallergic contact dermatitis
Photoallergic dermatitis
Photoallergic eczema
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.
Diaphragmatic Hernia
A pituitary gland benign neoplasm that derives_from glandular epithelial cells.
adenoma of the Pituitary gland
Anomalous A-V excitation
OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].
Wolff-Parkinson-White pattern
anomalous atrioventricular excitation
neoplasm of Rathke's Pouch
tumors of Skull Base
malignant Diencephalic tumor
malignant diencephalic neoplasm
tumor of Diencephalon
Colonic hamartomatous polyp
Peutz-Jeghers polyp of small Intestine
Peutz Jeghers colon polyp
Peutz Jeghers polyp
gastric Peutz-Jeghers polyp
peutz-jeghers small bowel hamartoma
Seminal Vesicle neoplasm
seminal vesicle tumour
tumor of seminal vesicle
tumour of seminal vesicle
A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum.
male genital cancer
male genital neoplasm
male reproductive system neoplasm
malignant neoplasm of male genital organ
malignant neoplasm of male genital organ or tract
malignant neoplasm of male genital organs
malignant tumor of male Reproductive system
malignant tumor of male genital organ
neoplasm of male genital organ
tumor of male Reproductive system
A medulloblastoma that is characterized by cells that are larger than would be normally expected.
large cell Medulloblastoma
Medullomyoblastoma
adult brain medulloblastoma
pediatric Medulloblastoma
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.
HNPCC - hereditary nonpolyposis colon cancer
COCA 1
Hereditary Defective Mismatch Repair syndrome
hereditary nonpolyposis colorectal cancer
hereditary nonpolyposis colorectal neoplasm
AIP - acute intermittent porphyria
Pyrroloporphyria
porphyria intermittent acute
A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.
A pancreatic cystadenoma that is characterized by the overproduction of insulin.
Insulin-Producing tumor of Islet cells
Islet cell adenoma
Apocrine Cystadenoma
Apocrine cystadenoma
Eccrine Cystadenoma
Hidrocystoma
Eccrine hidrocystoma of skin
tubular Apocrine adenoma
A sweat gland benign neoplasm that is located_in an apical sweat gland.
Hidradenoma of skin
Sweat gland adenoma
Syringoadenoma
A vulvar disease that is characterized by inflammation of the vulva.
A bronchus cancer that has_material_basis_in epithelial cells.
BC - Bronchogenic carcinoma
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.
cancer of lung
carcinoma of lung
bronchus neoplasm
neoplasm of bronchus
A non-small cell lung carcinoma that has_material_basis_in the squamous cell.
Epidermoid cell carcinoma of the lung
squamous cell carcinoma of lung
A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
NSCLC
Non-small cell lung cancer
non-small cell lung carcinoma
Hutchinson Gilford syndrome
Hutchinson-Gilford disease
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.
HGPS
Hutchinson-Gilford Progeria syndrome
An inner ear disease which involves inflammation of the inner ear.
inner ear infection
malignant lipomatous tumor
malignant tumor of Adipose tissue
Overproduction of ACTH
pituitary-dependent Cushing disease
Adrenocortical hyperfunction
hyperadrenalism
hypercortisolism
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.
Adrenal cortical carcinoma
carcinoma of the Adrenal cortex
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.
carcinoma of the Adrenal gland
An endocrine gland cancer located_in the adrenal glands which are located above the kidneys.
adrenal cancer
adrenal neoplasm
malignant Adrenal tumor
malignant neoplasm of adrenal gland
neoplasm of adrenal gland
tumor of the Adrenal gland
A thyroid gland cancer that has_material_basis_in epithelial cells.
head and neck cancer, Thyroid
thyroid gland carcinoma
Trabecular adenocarcinoma
trabecular carcinoma
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.
Papillary carcinoma of the Thyroid gland
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.
Cardiomyopathy, constrictive
Familial restrictive cardiomyopathy
Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK].
Restrictive cardiomyopathy
primary restrictive cardiomyopathy
A thyroid gland carcinoma that has_material_basis_in parafollicular cells.
Medullary carcinoma of the Thyroid gland
Medullary thyroid carcinoma
Ultimobranchial thyroid tumor
Ultimobranchial thyroid tumour
medullary thyroid carcinoma
A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium.
pantothenate kinase-associated neurodegeneration
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
Hallervorden-Spatz disease
Hallervorden-Spatz syndrome
NBIA1
Pigmentary pallidal degeneration
brain Iron Accumulation type I syndrome
neurodegeneration with brain iron accumulation 1
A cranio-facial dystonia that is accompanied by blepharospasm.
A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia.
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.
An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra.
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.
An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.
Ovarian carcinoma
A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.
bladder transitional cell carcinoma
transitional cell carcinoma of bladder
urinary bladder urothelial carcinoma
urothelial bladder carcinoma
A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of urinary bladder
A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.
A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.
Papillary transitional cell carcinoma
A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder.
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.
Angioma serpiginosum of skin
A stomach disease that is an inflammation of the lining of the stomach.
Erosive Gastritis
Erosive gastropathy
acute gastric mucosal erosion
A gastrointestinal system disease that is located_in the mouth.
Eosinophilic Gastroenteritis
Eosinophilic gastroenteritis
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.
Tuberculosis of gastrointestinal tract
Tuberculosis of intestines, peritoneum and mesenteric glands
Tuberculosis of intestines, peritoneum, and mesenteric glands
malignant tumor of Skeletal Muscle
tumor of Skeletal Muscle
A musculoskeletal system cancer that is located_in muscle.
malignant neoplasm of muscle
malignant tumor of muscle
malignant tumor of the Muscle
myosarcoma
Alveolar rhabdomyosarcoma
alveolar childhood rhabdomyosarcoma
A prostate cancer that is located_in the prostate.
sarcoma of the prostate
Rhabdomyosarcoma with ganglionic differentiation
Duodenogastric reflux
duodenal disease
duodenum disorder
cystadenocarcinoma of pancreas
A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the pancreas
pancreas adenocarcinoma
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.
Tricuspid stenosis
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).
Valvular heart disease
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.
Tricuspid incompetence
Tricuspid regurgitation
Tricuspid valve regurgitation
A germ cell and embryonal cancer that derives_from trophoblastic tissue.
Trophoblastic neoplasm
Trophoblastic tumor
disorder of liver
hepatic disorder
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.
Dyspraxia
Dyspraxia syndrome
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.
parasitic ectoparasitic infectious disease
A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host.
ectoparasitism
An integumentary system disease that is located_in nail.
bile duct disorder
disorder of bile duct
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.
sphincter of oddi dysfunction
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.
malignant neoplasm of orbit
neoplasm of orbit proper
orbit cancer
orbital tumor
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.
Symptomatic early syphilis
early symptomatic syphilis
early syphilis, symptomatic
CA - skin cancer
An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
cancer of skin
malignant neoplasm of skin
melanoma and Non-melanoma skin cancer
Ganglioneuroblastoma
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.
syphilitic chancre
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.
autoimmune hypersensitivity disease
hypersensitivity reaction type II disease
Rh incompatibility affecting management of mother
A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
Scleroderma
Scleroderma syndrome
progressive systemic sclerosis
systemic sclerosis
Normocalcemic pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand.
Articulation impairment
Phonological disorder
A speech disorder that involves a complete inability to speak.
A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
dermatosclerosis
cerebral thrombosis
disorder of glucose metabolism
A hair disease characterized by hair growth that is abnormal in quantity or location.
Peroneal Neuropathy
Brainstem Neuroglial tumor
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.
malignant neoplasm of brain stem
malignant neoplasm of brainstem
neoplasm of adult brain stem
neoplasm of brain stem
primary brain Stem tumor
primary brain stem neoplasm
cerebellar cancer
malignant tumor of Cerebellum
An integumentary system disease that is located_in hair.
A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary.
A dermatitis that is characterized by a pyogenic infection causing the formation of pus.
An endometrial stromal tumor that has_material_basis in connective tissue.
ESS
Undifferentiated endometrial sarcoma
endometrial stromal sarcoma, high grade
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
malignant tumor of Smooth Muscle
A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations.
extraosseous Ewing's sarcoma
extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor
extraskeletal Ewing sarcom
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.
Clear cell sarcoma
Clear cell sarcoma of soft Parts
adult soft part clear cell sarcoma
malignant melanoma of soft parts
malignant melanoma of soft tissues
melanoma, malignant, of soft parts
A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy.
A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
MMMT
Mesodermal mixed tumor
malignant mixed Mullerian tumor
malignant mixed mesodermal (mullerian) tumor
mesodermal mixed tumor
mixed Mesodermal (mullerian) tumor
mullerian mixed tumor
Alveolar Soft Part sarcoma
A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
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.
primary atelectasis of newborn
primary atelectasis, in perinatal period
A kidney cancer that is located in the kidney's connective tissue.
renal sarcoma
sarcoma of kidney
Coronary artery stenosis
Gerstmann-Straussler-Scheinker disease
A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
PRION DEMENTIA
An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.
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.
Alexander's disease
An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex.
A bone remodeling disease that results_in abnormal elevated bone density or mass.
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.
cortical congenital hyperostosis
infantile cortical hyperostosis
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.
Coma vigilans
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.
Infection by Encephalitozoon
An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.
Infection by Microspora
Infection by Microsporea
Infection by Microsporida
Circumscribed solid basal cell carcinoma
A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery.
Basal cell carcinoma, nodular
skin nodulo-ulcerative basal cell carcinoma
skin solid (nodular) Basal cell carcinoma
An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
carcinoma of the External ear
carcinoma of external ear
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.
pulmonary venolobar syndrome
total anomalous pulmonary venous return
Giant cell neoplasm of bone
Giant cell tumor of bone
A benign giant cell tumor that results_in the presence of multinucleated giant cells.
Giant cell tumour of bone
bone giant cell tumour
giant cell myeloma
osteoclastoma
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.
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.
acquired epidermolysis bullosa
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.
Ebola virus disease
Marburg disease
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.
Marburg virus disease
A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary.
Cyst, fimbrial
Embryonic fimbrial cyst
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.
favus
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.
Dermatophytosis of scalp
Scalp ringworm
Trichophyton rubrum tinea capitis
dermatophytosis of scalp or beard
tinea capitis due to Trichophyton rubrum
Protocoproporphyria
Protoporphyrinogen oxidase deficiency
Variegate porphyria
Lymph cyst
A female reproductive organ cancer that is located_in the cervix.
cervical neoplasm
cervix cancer
cervix uteri cancer
neoplasm of uterine cervix
tumor of the Cervix Uteri
uterine cervical neoplasm
apparent mineralocorticoid excess syndrome
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.
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
cortisol 11-beta-ketoreductase deficiency
syndrome of apparent mineralocorticoid excess
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.
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.
Cerebral embolism with cerebral infarction
cerebral embolism
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.
Allergy to eggs
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.
allergy to peanuts
peanut allergic reaction
autoimmune disease of the nervous system
An autoimmune disease affecting the nervous system.
autoimmune nervous system disorder
Lipoleiomyoma
Myofibroma
A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
Acropustulosis
Pustular psoriasis of the palms and/or soles
Palmoplantar Pustulosis
A neuropathy that affect the nerves that control the voluntary muscles.
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.
Fibroxanthoma
benign fibrous histiocytoma
fibrous Histiocytoma
Dermatofibroma
Fibrohistiocytic tumor
Pleomorphic fibroma
Sclerosing angioma
Sclerosing angioma of skin
benign Cutaneous fibrous Histiocytoma
dermatofibroma
fibrohistiocytic tumor
fibrous histiocytoma of skin
fibrous xanthoma of skin
A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.
Sea-blue histiocyte syndrome
Multiple eruptive juvenile xanthogranuloma
Naevoxanthoendothelioma
Xanthoma neviforme
A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
Somatostatin cell neoplasm
Somatostatin cell tumour
meningioma of the Skull Base
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.
central nervous system germ cell tumour
germ cell tumor of the CNS
germ cell tumour of the CNS
A germinoma that has_material_basis_in cells that make sperm and eggs.
Seminoma, Pure
A germ cell cancer that derives_from cells that give rise to egg cells.
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.
Macular degeneration of retina
macular edema
macular oedema
macular retinal oedema
Bartter's syndrome
Aldosteronism with hyperplasia of the adrenal cortex
A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
RCC
adenocarcinoma of kidney
hypernephroma
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).
carcinoma of kidney
kidney carcinoma
An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.
Cushing syndrome
Cushing's syndrome
hyperaldosteronism
multilocular clear cell renal cell carcinoma
cystadenocarcinoma of kidney
renal cystadenocarcinoma
carcinoma of renal Collecting duct
A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material.
renal Medullary carcinoma
renal carcinoma, collecting duct type
A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.
Chromophil carcinoma of kidney
Papillary renal cell carcinoma
papillary kidney carcinoma
sporadic papillary renal cell carcinoma
Clear cell carcinoma of kidney
A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.
MESH:C538445 added from NeuroDevNet [WAK].
Clear-cell metastatic renal cell carcinoma
clear cell kidney carcinoma
conventional (Clear cell) renal cell carcinoma
conventional renal cell carcinoma
renal clear cell carcinoma
An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
Clear cell adenocarcinoma
Mesonephroid Clear cell carcinoma
Mesonephroma
Mesonephroma, malignant
Water-Clear cell adenocarcinoma
Water-clear cell adenocarcinoma
Water-clear cell carcinoma
Wolffian duct neoplasm
malignant Mesonephroma
mesonephroma
inborn renal tubular transport disorder
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.
Chromophobe carcinoma of kidney
chromophobe adenocarcinoma
kidney chromophobe
renal cell carcinoma, chromophobe cell
An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.
Achondroplastic physique
Chondrodystrophia
osteosclerosis congenita
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.
Non-seasonal allergic rhinitis
Perenial allergic rhinitis
atopic rhinitis
hay fever
pollenosis
seasonal allergic rhinitis
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.
runny nose
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.
avian flu
bird flu
A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
hypopotassemia
potassium deficiency disorder
A syndrome that is characterized by malformations of the face, oral cavity, and digits.
oral-facial-digital syndrome
A gastrointestinal system benign neoplasm that is a located_in the salivary glands.
Pleomorphic adenoma
mixed tumor of the Salivary gland
A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells.
MEC
Mucoepidermoid carcinoma
A syndrome that affects growth, cranial development, hair growth and dental development.
Francois dyscephalic syndrome
Hallermann's syndrome
Hallerman - Streiff syndrome
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.
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.
An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.
extraskeletal mesenchymal chondrosarcoma
mesenchymal extraosseous chondrosarcoma
A chondrosarcoma that is located_in exclusively soft tissue.
anal neoplasm
anal tumors
neoplasm of anus
large cell carcinoma of lung
large cell lung carcinoma
Ascaris lumbricoides infection
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.
Ascariasis - roundworm
meningioma, benign
Lymphoplasmacyte-Rich meningioma
Lymphoplasmocyte-rich meningioma
Epidermolytic palmoplantar hyperkeratosis
Bullous ichthyosiform erythroderma
bullous congenital ichthyosiform erythroderma
A biliary tract cancer that is located_in the bile duct.
Ca extrahepatic bile ducts
bile duct tumor
malignant neoplasm of the extrahepatic bile duct
A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.
malignant tumour of biliary tract
Myomatous neoplasm
Myomatous tumor
muscle neoplasm
muscle tissue neoplasm
neoplasm of muscle
A gastrointestinal system benign neoplasm that is located_in the intestine.
intestinal tumors
intestine growth
neoplasm of intestinal tract
Ulnar neuropathy
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.
Holoprosencephaly sequence
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.
DYSCHONDROPLASIA
ENCHONDROMATOSIS, MULTIPLE
Enchondromatosis with haemangiomata
Kast's syndrome
OSTEOCHONDROMATOSIS
Classic apraxia
Ideomotor dyspraxia
Limb-kinetic apraxia
Transcortical apraxia
cervical Lymphadenitis
cervical lymphadenitis
Suppurative lymphadenopathy
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.
Epidermolysis bullosa simplex
Retinal tumor
malignant Retinal neoplasm
malignant neoplasm of retina
malignant tumor of retina
neoplasm of retina
Hereditary Retinoblastoma
A retinoblastoma that develops in both eyes.
Indolent systemic mastocytosis
ISM
20th century disease
A syndrome that is an adverse physical reaction to low levels of many common chemicals.
chemical AIDS
environmental illness
idiopathic environmental illness
total allergy syndrome
Androgen resistance syndrome
Androgen-Insensitivity Syndrome
Feminisation - testicular
Goldberg - Maxwell syndrome
Goldberg-Maxwell syndrome
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.
testicular Feminization syndrome
testicular feminization
A corneal disease that is characterized by inflammation of the cornea.
Intramuscular hemangioma
Intramuscular Angioma
A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types.
Metaplastic carcinoma of the breast
metaplastic carcinoma of breast
carcinoma of extrahepatic bile duct
extrahepatic bile duct cancer
Mucoepidermoid carcinoma of skin
Mucoepidermoid skin carcinoma
A globe disease that is characterized by inflammation of the inside of the eye.
soft tissue Perineurioma
Mongolian Macula
A brain cancer that is located_in the infratentorial region.
brain neoplasm, Infratentorial
malignant Infratentorial tumors
meningioma of the Foramen Magnum
Angiomatous naevus of skin
Angioma of the skin
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.
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.
intracranial swelling
wet brain
A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate.
physiological malfunction arising from mental factor
psychophysiologic disorder
psychosomatic disorder
Angiolymphoid hyperplasia with eosinophilia
epithelioid haemangioma
epithelioid hemangioma
A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium.
Multiple system atrophy
Shy-Drager syndrome
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.
Blastoma of lung
A pulmonary blastoma that derives_from the lung or pleural cavity.
Pleuropulmonary blastoma
A kidney cancer that is characterized by the presence of fibroblastic cells.
intracranial primitive neuroectodermal tumor
intracranial PNET
Angiokeratoma
Angiokeratoma of skin
Cutaneous Angiokeratoma
skin angiokeratoma
Diktyoma, malignant
Medulloepithelioma
Medulloepithelioma, central nervous system
supratentorial primitive neuroectodermal tumor
Supratentorial PNET
systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
A reproductive system disease that affects male reproductive organs.
A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.
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.
Cholestanol storage disease
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.
Cavernous haemangioma
Cavernoma
Cavernous hemangioma
A squamous cell carcinoma that contains squamous cells and gland-like cells.
Adenosquamous carcinoma
Adenosquamous cell carcinoma
mixed adenocarcinoma and squamous carcinoma
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.
Disappearing bone disease
Gorham-Stout Syndrome
Gorham disease
essential osteolysis
massive osteolysis
phantom bone disease
A carcinoma that derives_from myoepithelial cells.
malignant Sebaceous tumor
malignant neoplasm of sebaceous gland
Subependymal astrocytoma
WHO grade I Ependymal tumor
mixed subependymoma-ependymoma
WHO grade II Ependymal tumor
epithelial ependymoma
astrocytoma of Cerebellum
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.
Piloid astrocytoma
grade I Astrocytic tumor
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.
Cylindroma
adenoid cystic cancer
adenoid cystic carcinoma
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.
Tick fever, American mountain
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.
Lymph Node Tuberculosis
Tuberculous adenitis
Tuberculous lymphadenopathy
king's evil
scrofula
A bile duct carcinoma that derives_from epithelial cells of glandular origin.
A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
pulmonary hemangioma
An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Ca appendix
carcinoma of appendix
A pancreas cancer that derives_from epithelial cells located_in the pancreas.
Exocrine pancreas carcinoma
Pancreatic carcinoma, familial
carcinoma of pancreas
exocrine cancer
A small intestine carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of small Intestine
small intestinal adenocarcinoma
A small intestine cancer that develops from epithelial cells and is located_in the small intestine.
cancer of the small bowel
small bowel cancer
small intestinal carcinoma
A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus.
Ca anus
carcinoma of anus
carcinoma of the Pituitary gland
carcinoma of kidney Pelvis
malignant neoplasm of renal pelvis
malignant renal Pelvis neoplasm
malignant tumor of renal pelvis
renal pelvis cancer
malignant Eccrine tumor
malignant eccrine skin neoplasm
A thymic carcinoma that derives_from epithelial cells of glandular origin.
adenocarcinoma of the Thymus
An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.
Klatskin tumor
Klatskin tumour
Klatskin's tumour
Perihilar extrahepatic bile duct carcinoma
hilar cholangiocarcinoma
hilar cholangiocellular carcinoma
Intrahepatic bile duct carcinoma
peripheral Cholangiocarcinoma
An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
ampulla of vater cancer
ampullary carcinoma
carcinoma of ampulla of vater
An ureter cancer that is located_in the ureter.
ureteral carcinoma
An in situ carcinoma that derives_from epithelial cells of glandular origin.
A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.
adult primary Cholangiocarcinoma
adult primary cholangiocellular carcinoma
cholangiosarcoma
A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cancer of the gallbladder
carcinoma gallbladder
carcinoma of gallbladder
Sclerosing haemangioma
Sclerosing hemangioma
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.
SCH
A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
bone Marrow tumor
bone marrow neoplasm
malignant bone Marrow tumor
malignant neoplasm of bone marrow
bone marrow disorder
An anxiety disorder that involves discress but neither delusions nor hallucinations.
Neurotic depression reactive type
Neurotic depressive state
Psychoneurosis
depressive neurosis
neurosis
neurotic depression
reactive depression
Nelson's syndrome
An agnosia that results in the loss of the ability to consciously recognize familiar faces.
A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.
Aleukemic myelosis
Agnogenic myeloid metaplasia
Megakaryocytic myelosclerosis
bone Marrow Fibrosis
myelosclerosis
primary myelofibrosis
myelodysplastic/myeloproliferative neoplasm
A myeloid neoplasm that results_in the overproduction of white blood cells.
Myeloproliferative/Myelodysplastic syndromes
myelodysplastic myeloproliferative cancer
myelodysplastic myeloproliferative disease
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.
Elephantiasis
Lymphoedema
Lymphatic edema
A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
benign essential tremor
essential hereditary tremor
shaky hand syndrome
glioma of the optic nerve
Diaphyseal dysplasia
An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
Engelman's disease
progressive diaphyseal dysplasia
An endocrine system disease that is located_in the thyroid.
Fibrolamellar hepatocellular carcinoma
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.
Hepatocellular carcinoma, fibrolamellar
Oncocytic Hepatocellular tumor
central nervous system mesenchymal non-meningothelial tumor
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.
Non-meningothelial mesenchymal tumor
Non-meningothelial mesenchymal tumour
central nervous system mesenchymal non-meningothelial tumour
An endocrine gland located_in the pineal gland located in the brain.
Pinealoma
Pineocytic tumor
malignant Pineal Region tumor
malignant tumor of pineal gland
neoplasm of pineal gland
neoplasm of the Pineal Region
pineal body neoplasm
tumor of the pineal region
benign granular cell tumor
A gastrointestinal system cancer that is located_in the esophagus.
Ca lower third oesophagus
Ca middle third oesophagus
esophagus cancer
malignant neoplasm of distal third of esophagus
malignant neoplasm of lower third of oesophagus
malignant neoplasm of middle third of oesophagus
malignant neoplasm of proximal third of esophagus
malignant neoplasm of upper third esophagus
malignant tumor of Distal Third of esophagus
malignant tumor of Proximal Third of esophagus
malignant tumor of abdominal esophagus
malignant tumor of the middle Third of the esophagus
granular cell tumor, malignant
malignant granular cell neoplasm
malignant granular cell tumor
Ehrlich tumour carcinoma
Ehrlich's tumor
Ehrlich's tumour
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.
Nightcliff gardener's disease
Pseudoglanders
Whitmore's disease
acute and fulminating melioidosis
subacute and chronic melioidosis
A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences.
PCP abuse
Phencyclidine abuse
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.
adjustment disease
adjustment reaction
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.
Ependymal neoplasm
ependymal tumors
mixed Neuroglial tumor
mixed gliomas
SEGA
Subependymal giant cell astrocytoma
A cell type benign neoplasm that has_material_basis_in glial-type cells.
CNS ganglioglioma
adult ganglioglioma
childhood ganglioglioma
Cirrhosis
cirrhosis of liver
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.
Thoracic tumor
thorax cancer
thorax neoplasm
tumor of thorax
malignant tumor of ear
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.
human swayback
A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.
Cutaneous leiomyoma
leiomyoma of the skin
A leiomyoma that is multiple and diffuse.
A vulvar benign neoplasm that is located_in smooth muscle cells.
Enzootic encephalomyelitis
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.
A connective tissue cancer that located_in the pleura.
Pleural tumor
neoplasm of pleura
Arteriosclerosis obliterans
Arteriolosclerosis
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.
endometrial Stromal neoplasm
A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour.
Hereditary Wilms tumor
Hereditary Wilms tumour
WT1
hereditary Wilms' tumor
hereditary Wilms' tumour
An artery disease that is characterized by degeneration of the cells composing the aortic wall.
aortic disorder
disorder of the aorta
Obstructive Uropathy
urinary obstruction
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.
fructose 1 phosphate aldolase deficiency
fructose-1,6-diphosphatase deficiency
An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm).
Ovarian Monodermal teratoma
A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
carbohydrate-deficient glycoprotein syndrome
chronic inflammatory demyelinating polyradiculoneuropathy
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.
peripheral demyelinating neuropathy
Capillary Hemangioblastoma
human immunodeficiency virus infectious disease
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.
HIV infection
A sarcoma and malignant tumor of small intestine that is located_in the small intestine.
sarcoma of the Small Intestine
A prostate sarcoma that is located_in the prostate.
leiomyosarcoma of the prostate
A breast sarcoma that arises from smooth muscle cells.
leiomyosarcoma of the breast
A leiomyosarcoma and sarcoma of kidney that is located_in the kidney.
leiomyosarcoma of kidney
A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
A gastrointestinal system disease that is located_in the intestine.
An endocrine system disease that is located_in the pituitary gland.
pituitary disease
An adnexa disease that is located_in the eyelid.
A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
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.
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
RBS
disease of thymus gland
Dental pulp disorder
disorder of pulp of tooth
pulp disorder
Granulosa cell tumor of testis
Granulosa cell tumour of testis
testicular granulosa cell tumour
Gingival polyp
epulides
polyp of Gum
A disease of mental health that involves disruption of sleep patterns.
Non-organic sleep disorder
A intestinal disease located in the colon.
colon disorder
Myxoid/round cell liposarcoma
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.
Coin lesion lung
Coin lesion of lung
Pilomatricoma
benign pilomatricoma
Hair Matrix neoplasm
Hair matrix tumour
Pilomatricoma, malignant
Pilomatrix carcinoma of skin
malignant Pilomatricoma
pilomatrix carcinoma of skin
Hb-E disease
Hemoglobin E disease
A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma.
Cholangioadenoma
A lung benign neoplasm that derives_from glandular epithelial cells.
adenoma of lung
pulmonary adenoma
A sensory organ benign neoplasm that is located_in the middle ear.
adenoma of middle ear
adenoma of the middle ear
Follicular adenoma, oxyphilic cell
Oncocytoma
Total ophthalmoplegia
oculomotor paralysis
Secretory adenoma of the Pituitary gland
An adenoma that is composed_of epithelial cells admixed with adipose tissue cells.
A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.
A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells.
Microcystic adenoma
Familial Paget's disease of bone
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.
Xref MGI. MESH:C538098 added from NeuroDevNet [WAK].
Paget disease of bone
Paget's bone disease
osseous Paget's disease
osteitis deformans
A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.
A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality.
A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
schizophrenia-1
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.
secondary Meig's syndrome
An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
hypergonadotropic hypogonadism
premature menopause
premature ovarian insufficiency
primary ovarian insufficiency
dystonic disease
bladder papillary transitional cell neoplasm
urinary bladder Papillary Urothelial neoplasm
urinary tract papillary transitional cell benign neoplasm
Inverted papilloma of urinary tract
Papillary transitional cell neoplasm of the urinary tract
urinary tract inverted papilloma
Bovine spongiform encephalopathy
bovine spongiform encephalopathy
Eccrine acrospiroma
Eccrine hidradenoma
Eccrine hidradenoma of skin
Poroma
Clear cell Hidradenoma
Clear cell hidradenoma
Clear cell myoepithelioma
Eccrine spiradenoma
Eccrine spiradenoma of skin
benign eccrine spiradenoma
Papillary Syringadenoma
Papillary syringadenoma
Syringocystadenoma papilliferum
pulmonary veno-occlusive disease
A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree.
bile duct papillomatosis
An ovarian benign neoplasm that is composed_of epithelial ovarian tissue.
Cystadenofibroma
A synovium cancer which develops in the synovial membrane of the joints.
A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera.
Infestation by Pediculus
Lice infestation
Louse infestation
Pediculosis + lice
Pediculosis and phthirus infection
Pediculosis and phthirus infections
Pediculosis and phthirus infestation
mixed pediculosis
mixed pediculosis infestation
pediculosis
pediculosis and phthirus infection
Ependymal neoplasm of the Spinal Cord
A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal.
A nasal cavity carcinoma that has_material_basis_in squamous cells.
squamous cell carcinoma of nasal cavity
squamous cell carcinoma of the nasal cavity
A stomach cancer that is located_in the stomach.
cancer of the stomach
carcinoma of stomach
gastric carcinoma
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.
acute pneumonia
Basaloid carcinoma
Basaloid squamous cell carcinoma
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.
An anal carcinoma that arises near the squamocolumnar junction.
Epidermoid anal carcinoma
Epidermoid gallbladder carcinoma
A squamous cell carcinoma that is located_in the gallbladder.
squamous cell carcinoma of the gallbladder
A teratoma that is composed exclusively of mature tissues derived from two or three germ layers.
germ cell teratoma of Ovary
Microcystic Adnexal carcinoma
Microcystic adnexal carcinoma of skin
Syringomatous carcinoma
A urinary system disease that is located_in the kidney.
nephropathy
A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
VIP- Secreting tumor
Vasoactive intestinal peptide-secreting tumor
Vipoma, malignant
malignant vasoactive intestinal peptide-secreting tumor
A neuroendocrine tumor that results_in an overproduction of gastric acid.
Gastrin Secreting tumor
Gastrin cell tumour
malignant gastrinoma
pancreatic G-cell tumor
Papillary carcinoma of the breast
breast solid papillary carcinoma
A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass.
papillary carcinoma of breast
solid papillary carcinoma of the breast
precursor T-lymphoblastic lymphoma/leukemia
An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.
Precursor T Lymphoblastic Leukemia
T Acute Lymphoblastic Leukemia
T-cell acute lymphocytic leukaemia
acute T cell leukaemia
An acute lymphocytic leukemia occurring during adulthood.
adult acute lymphoid Leukemia
pulp calcification
pulp calcifications
pulpal calcifications
Intraspinal tumor
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).
malignant tumor of the Spinal Cord
spinal cord cancer
spinal cord neoplasm
spinal neoplasm
tumor of the Spinal Cord
An eye and adnexa disease that is located_in the eye.
A sarcoma and hematologic cancer that derives_from follicular lymphoma.
histiocytic and dendritic cell
meningioma of optic nerve sheath
optic nerve Sheath meningioma
A cervical carcinoma that derives_from squamous cells and gland-like cells.
Adenosquamous carcinoma of cervix
Adenosquamous cell carcinoma of the Cervix Uteri
A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus.
A neuropathy that is located_in one of the twelve cranial nerves.
Cranial nerve disorder
disorder of cranial nerve
A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids.
An ear cancer that is located_in the external ear.
malignant neoplasm of the External ear
malignant tumor of external ear
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.
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.
Cribriform carcinoma
ductal carcinoma, cribriform type
An eye disease that is located_in the retina.
hereditary breast ovarian cancer syndrome
A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer
spondyloepimetaphyseal dysplasia, Sponastrime type
A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.
Spondylar and nasal Alterations-Striated Metaphyses syndrome
sponastrime dysplasia
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.
Werner's syndrome
adult premature ageing syndrome
adult progeria
visual cortex dysfunction
Corrigan's disease
Rheumatic aortic insufficiency
Rheumatic aortic regurgitation
Rheumatic aortic valve regurgitation
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.
aortic incompetence
aortic insufficiency
aortic regurgitation
rheumatic aortic valve insufficiency
Pituitary tumors, Hormone Producing
Somatotropinoma
growth hormone producing pituitary tumor
An adrenal gland cancer that derives_from immature neuroblastic cells.
neuroblastoma of Adrenal gland
mononeuritis of upper limb and mononeuritis multiplex
An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
atrophy of optic disc
Entrapment Neuropathy
Compression neuropathy
entrapment neuropathy
peripheral nerve entrapment syndrome
Pyosalpingitis
A fallopian tube disease that is characterized by inflammation of the fallopian tube.
A nervous system disease that affects the peripheral nervous system.
peripheral nerve disease
peripheral neuropathy
A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.
pancreatic acinar cell carcinoma
An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed.
serous cystadenoma
pulmonary valve disorder
A cervicitis that is located_in the endocervix.
Mesenchymoma, malignant
Sebaceous neoplasm
A kidney disease that is characterized by the presence of excess proteins in the urine.
Cutaneous Verruciform Xanthoma
Verruciform xanthoma
Verruciform xanthoma of skin
central nervous system hematologic cancer
A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.
CNS hematopoietic tumor
hematopoietic neoplasm of central nervous system
A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.
Oral cavity Submucous Fibrosis
Oral submucosal fibrosis
Oral submucosal fibrosis, including of tongue
A nephrolithiasis that is characterized by stones composed predominantly uric acid.
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.
purine nucleoside phosphorylase deficiency
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.
PNP deficiency
Purine-Nucleoside Phosphorylase deficiency
deficiency of inosine phosphorylase
A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time.
A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas.
A breast cancer that arises_from lymphocytes.
Lymphoma of the breast
lymphoma of breast
malignant lymphoma of breast
An ovary adenocarcinoma that has_material_basis_in endometrial tissue.
Ovarian endometrioid carcinoma
endometrioid carcinoma of ovary
endometrioid carcinoma ovary
ANEMIA HEMOLYTIC
OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
Spermatocytic seminoma
Spermatocytic Seminoma
primary extragonadal seminoma
Seminoma of testis
Seminoma testis
testicular Seminoma Pure
A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.
Myocardial infarct
heart attack
Posterior myocardial infarction
A kidney disease characterized by the formation of stoney concentrations in the kidneys.
Stone - kidney/ureter
kidney stones
Inferior myocardial infarction
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.
Pneumonia, eosinophilic
An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum.
malignant neoplasm of retroperitoneum
malignant neoplasm of retroperitoneum and peritoneum
malignant retroperitoneal cancer
malignant tumor of peritoneum and retroperitoneum
neoplasm of retroperitoneum
neoplasm of the retroperitoneum
retroperitoneal neoplasm
tumor of retroperitoneum
Apocrine tumor
congenital hemolytic anaemia
hereditary hemolytic anaemia
hereditary hemolytic anemia
An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.
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.
Fear of open spaces
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.
panic anxiety syndrome
malignant neoplasm of the peripheral nerve Sheath
Occlusion and stenosis of multiple and bilateral precerebral arteries
occlusion and stenosis of precerebral artery
A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations.
simple phobia
Cardiac Failure Congestive
CHF
Congestive heart disease
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.
Weak heart
A gastrointestinal system disease that is located_in the appendix.
An artery disease that is located in the lungs.
A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system.
An endocrine organ benign neoplasm that is located_in some parathyroid gland.
A benign neoplasm located in the pituitary gland.
selective immunoglobulin deficiency disease
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.
juvenile type testicular granulosa cell tumor
Juvenile granulosa cell tumor
Juvenile granulosa cell tumour
Juvenile type Granulosa cell tumor
Juvenile type Granulosa cell tumour
juvenile type granulosa cell neoplasm
juvenile type testicular granulosa cell tumour
A gastrointestinal system disease that is located_in the esophagus.
esophageal Ulcer
An ovary epithelial cancer that is characterized by the presence of mucin.
Ovarian mucinous tumor
malignant ovarian mucinous neoplasm
mucinous tumor of Ovary
Paraplegia, lower
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.
traumatic stress disorder
Mitral RH valve dis.
Rheumatic disease of mitral valve
Rheumatic mitral insufficiency
Rheumatic mitral valve changes
Rheumatic mitral valve regurgitation
chronic rheumatic mitral valve
disease of mitral valve
rheumatic disease of mitral valve
rheumatic mitral valve incompetence
meningioma of the Jugular Foramen
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.
hypoimmunity
immune deficiency disorder
immunodeficiency syndrome
An anal canal cancer that derives_from epithelial cells.
anal canal and Perianal gland carcinoma
CI - Chest infection
Chest infection
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.
acute Bronchitis
acute bronchitis and bronchiolitis
chest cold
chronic bronchitis
recurrent wheezy bronchitis
A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.
Lymphocytopenia
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.
Leucopenia
An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue.
epithelioid cell sarcoma
A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.
Madras eye
Fiessinger Leroy Reiter syndrome
An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.
Post-bacterial arthropathy
Reactive arthritis
Reiter disease
Reiter's disease
postdysenteric arthropathy
Corneal tumor
malignant Corneal tumor
malignant neoplasm of cornea
malignant tumor of cornea
neoplasm of cornea
blood protein disorder
malignant Pericardial Mesothelioma
malignant mesothelioma of pericardium
Follicular adenoma
Follicular adenoma of the Thyroid gland
Thyroid follicular adenoma
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.
non-invasive bladder papillary urothelial neoplasm
Papillary urothelial neoplasm of low malignant potential
bladder PUNLMP
bladder papillary neoplasm of low malignant potential
Oncocytoma of kidney
renal epithelial Oncocytic tumor
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.
Complement deficiency
Complement deficiency disease
A dendritic cell sarcoma cancer that effects the follicular dendritic cells.
Follicular Dendritic cell sarcoma
Follicular dendritic cell tumour
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.
Inflammatory carcinoma of breast
Mastitis carcinomatosa
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.
SCID
combined T and B cell inborn immunodeficiency
carcinoma of Cardia of stomach
adenocarcinoma of Cardia of stomach
adenocarcinoma of gastric cardia
TSH Secreting adenoma of the Pituitary
TSH Secreting tumor of Pituitary
TSH Secreting tumour of Pituitary
TSH producing pituitary tumour
Thyrotroph adenoma
combined T cell and B cell immunodeficiency
A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.
Congenital Combined Immunodeficiency
combined immunodeficiency
A disease that has_material_basis_in genetic variations in the human genome.
A myopathy characterized by muscle inflammation.
Inflammatory disorder of muscle
AIDS
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.
acquired Immune deficiency
acquired immune deficiency syndrome
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.
chronic lymphocytic leukemia/small lymphocytic lymphoma
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.
osmotic demyelination syndrome
A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
migraine disorder
migraine variant
migraine with or without aura
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.
acral lentiginous melanoma, malignant
malignant acral lentiginous melanoma
hypersplenia
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.
ADEM
acute Disseminated Encephalomyelitis
acute disseminated encephalitis
Encephalitis &/or myelitis
Metanephric adenoma
Dextrotransposition of aorta
Double outlet right ventricle
Double outlet right ventricle with subpulmonary ventricular septal defect
Taussig-Bing syndrome or defect
Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
carcinoma of the eyelid
progressive multifocal leukoencephalopathy
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.
PML
A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.
A syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.
Cowden disease
Lhermitte-Duclos disease
dysplastic Gangliocytoma of Cerebellum
multiple hamartoma syndrome
Cerebellar liponeurocytoma
Lipomatous Medulloblastoma
An encephalitis that involves inflammation of the brain caused by viral infection.
epidemic encephalitis
An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine.
Lipoma of large Intestine
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.
kuru encephalopathy
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.
Prion disease pathway
Prion protein disease
Spongiform Encephalopathy
prion induced disorder
transmissible spongiform encephalopathy
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.
Myxoid extraosseous chondrosarcoma
A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
connective tissue disorder
disorder of connective tissue
An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
inborn errors of purine-pyrimidine metabolism
Polygonal cell Thymoma
Thymoma, cortical
A mature B-cell neoplasm that is composed of plasma cells.
Plasma cell dyscrasia
Plasma cell tumour
Plasmacytic tumor
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.
A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
Acne varioliformis
acne vulgaris
frontalis acne
Lymphoma of Heart
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.
Inborn Errors of Metabolism
Metabolic hereditary disorder
inborn metabolism disorder
An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.
adenoma of the Adrenal gland
A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
acinar cell adenoma
acinic cell adenoma
adenomas
Adrenal cortical tumors
malignant Adrenocortical tumor
malignant neoplasm of adrenal cortex
malignant tumour of adrenal cortex
neoplasm of adrenal cortex
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.
Congenital leukocyte adherence deficiency
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.
hyperimmunoglobulin M syndrome
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.
hemangioma of Cerebrum
diffuse idiopathic skeletal hyperostosis
Ankylosing vertebral hyperostosis
DISH
Disseminated idiopathic skeletal hyperostosis
Forestier disease
A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
pulmonary large cell neuroendocrine carcinoma
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.
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Tooth and Nail syndrome
Witkop's syndrome
A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.
Myisitis ossificans
Ossification - muscle
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.
Capgras delusion theory
A bone structure disease that has_material_basis_in displacement located_in set of vertebrae.
A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
Aarskog-Scott syndrome
Greig's syndrome
faciogenital dysplasia
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.
ALPS
Canale-Smith syndrome
MPNST with Rhabdomyosarcoma
MPNST with rhabdomyoblastic differentiation
malignant Triton tumor
malignant Triton tumour
malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma
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.
Anterior spinal artery occlusion syndrome
CVA
An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.
Cerebrovascular accident
cerebrovascular accident
cerebrovascular disorder
stroke
A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen.
Splenic neoplasm
malignant Splenic tumor
malignant tumour of spleen
spleen neoplasm
A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord.
Spinal stenosis of lumbar region
cervical spinal stenosis
lumbar spinal stenosis
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.
Palatoschisis
small cell carcinoma of the Cervix Uteri
small cell carcinoma of the cervix
A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
Pauciarticular onset juvenile chronic arthritis
acute juvenile rheumatoid arthritis
juvenile chronic polyarthritis
juvenile idiopathic arthritis
monarticular juvenile rheumatoid arthritis
pauciarticular juvenile arthritis
systemic juvenile rheumatoid arthritis
lymphoma of lung
pulmonary Lymphoma
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.
Steele-Richardson-Olszewski syndrome
progressive supranuclear ophthalmoplegia
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.
A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
A pilocytic astrocytoma that occurs during adolescence.
A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
Hepatoma
A liver cancer that has_material_basis_in epithelial cells.
Liver and Intrahepatic bile duct carcinoma
A germ cell cancer that is associated with an embryo.
embryo neoplasm
embryonal neoplasm
A lymphoma by site that is manifested in immune system cells called lymphocytes.
Peroneal nerve palsy
Enamel Hypoplasia
Enamel hypoplasia
Urothelial papilloma
bladder papilloma
transitional cell papilloma of bladder
urinary bladder Urothelial papilloma
Telangiectatic osteosarcoma
Excessive vasoactive intestinal peptide secretion
Verner-Morrison syndrome
pancreatic WDHA syndrome
Sensitive dentin
A myopathy that is characterized by mitochondrial dysfunction.
mitochondrial cytopathy
A disease that manifests in a defined anatomical structure.
An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
ACTH-Producing Pituitary Adenoma
Corticotropinoma
A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome.
Corticotroph adenoma
Gemistocytic Astrocytic tumor
Gemistocytic astrocytoma
Dentinal dysplasia
A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology.
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.
Infection by Anisakis larva
Leber's hereditary optic neuropathy
Leber's optic atrophy
mature B-cell lymphocytic neoplasm
A non-Hodgkin lymphoma that has_material_basis_in B cells.
B-cell lymphocytic neoplasm
prostate Oat cell carcinoma
small cell carcinoma of prostate
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.
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.
Bekhterev syndrome
Marie-Strumpell disease
Bekhterev's disease
An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
Arthritis or polyarthritis, rheumatic
atrophic Arthritis
De Quervain's thyroiditis
Giant-cell thyroiditis
Granulomatous thyroiditis
Subacute Granulomatous Thyroiditis
Subacute Thyroiditis
Subacute thyroiditis
de Quervain's thyroiditis
Updating to more specific UMLS_CUI from C0029495 to C0040147.
Cloacogenic anal carcinoma
Cloacogenic carcinoma
An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies.
Autoimmune hemolytic anaemia
Autoimmune hemolytic anemia
Autoimmune haemolytic anaemia
autoimmune hemolytic anaemia
Subacute lymphocytic thyroiditis
An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
Chronic Lymphocytic Thyroiditis
Hashimoto's Disease
Hashimoto's syndrome
Hashimoto thyroiditis
Lymphocytic Thyroiditis
Hashimoto's thyroiditis
ANEMIA NORMOCYTIC
Psammomatous meningioma
Fibroblastic meningioma
A breast fibroadenoma that is larger than 5 cm.
Giant Fibroadenoma
Giant fibroadenoma of breast
Stress incontinence - female
female urinary stress incontinence
Astroblastoma
An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
neoplasm of urinary system
tumor of the urinary system
tumor of urinary tract
urinary tract neoplasm
A urinary system disease that is located_in the urethra.
urethra disease
Fasciitis - nodular
Pseudosarcomatous Fasciitis
Pseudosarcomatous fibromatosis
nodular fasciitis
Nephrogenic adenoma of the urinary bladder
An urinary tract cancer that derives_from the tissues of the urethra.
cancer of urethra
malignant tumour of urethra
malignant urethral neoplasm
urethral Ca
Kimura's disease
A disease of anatomical entity that has_material_basis_in hematopoietic cells.
Blood disease
Blood dyscrasia
DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS
Hematological disease
blood disorder
disease of haematopoietic system
disease of hematopoietic system
haematopoietic system disease
Berlin breakage syndrome
NBS
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.
Microcephaly, normal intelligence and immunodeficiency
Seemanova syndrome II
Seemanova syndrome type 2
ataxia-telangiectasia variant
immunodeficiency-microcephaly-chromosomal instability syndrome
microcephaly-immunodeficiency-lymphoreticuloma syndrome
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.
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.
monoclonal gammopathy of uncertain significance
A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood.
MGUS
Monoclonal gammopathy of undetermined significance
Enterobius vermicularis infection
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.
Oxyuris vermicularis infection
Pinworm infection
Threadworm infection
oxyuriasis
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.
NK-cell large granular Lymphocyte Lymphocytosis
A pleural cancer that has_material_basis_in mesothelium cells.
malignant mesothelioma of pleura
An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.
Osgood-Schlatter disease
Osteochondrosis of proximal tibia
A bone inflammation disease that involves rupture of the growth plate in children located_in tibia.
Osteochondritis of tibial tubercle
juvenile osteochondrosis of tibial tubercle
An immune system disease that is located_in the lymphatic system.
Adenopathy
Lymphangiopathy
Lymphatic disease
Lymphatic disorder
disease of lympoid system
disorder of lymph node and lymphatics
disorder of lymphatic system
disorder of lymphoid system
lymphatic disorder
lympoid system disease
acute peptic ulcer with hemorrhage
acute peptic ulcer with hemorrhage and perforation
acute peptic ulcer without hemorrhage AND without perforation
Peptic ulcer with perforation
Perforated peptic ulcer
acute peptic ulcer with perforation
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.
chronic gonococcal infectious disease of lower genitourinary tract
chronic gonococcal infectious disease of upper genitourinary tract
Complete transposition
Laterality sequence
situs inversus viscerum
A gastrointestinal system disease that is located_in the stomach.
Gastropathy
gastric disease
stomach disorder
Fibroblastic osteosarcoma
Fibrosarcomatous Osteogenic sarcoma
A parathyroid gland benign neoplam that is located_in the parathyroid.
adenoma of parathyroid
adenoma of the Parathyroid gland
A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body.
Macular hole
Muscle wasting
Amyotrophia
Wasting - muscle
A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
RB - Retinoblastoma
neuroblastoma of Retina
An autonomic nervous system neoplasm that derives_from immature nerve cells.
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
An aortic aneurysm that is located_in the abdominal aorta.
A disease of anatomical entity that is located_in the gastrointestinal tract.
GIT disease
Gastroenteropathy
alimentary system disease
digestive system disorder
gastrointestinal disease
gastrointestinal disorder
A malignant neoplasm that derives_from the retina.
epilepsy with generalized tonic-clonic seizures
Grand Mal epilepsy
An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.
Epileptic seizures, tonic-clonic
tonic-clonic epilepsy
primary intraocular lymphoma
Coats' disease
Coats' syndrome
Exudative retinopathy
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.
A uterine disease that is located_in the placenta.
end stage renal failure
A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.
CKD
CRF
A kidney failure that is characterized by the gradual loss of kidney function.
chronic kidney failure
chronic renal disease
chronic renal failure syndrome
renal failure - chronic
A breast carcinoma that is manifested in the female breast.
Mammary carcinoma of female breast
carcinoma of female breast
A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes.
Dendritic cell sarcoma
Dendritic cell sarcoma, not otherwise specified
follicular dendritic cell sarcoma
An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium.
leuteoma of pregnancy
luteoma of pregnancy
A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae.
Hypotony of eye
Squamoid Thymoma
Thymoma, epithelial
Well differentiated thymic carcinoma
A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
Varix
Venous ectasia
Venous varices
varices
A thyroid gland disease that is characterized by excess thyroid hormone.
A thyroid gland disease that involves an over production of thyroid hormone.
overactive thyroid
Alveolar adenoma
adenoma of alveoli
adenoma of the alveoli
Haemarthrosis of shoulder joint
Haemarthrosis of the ankle and foot
Haemarthrosis of the pelvic region and thigh
Hemarthrosis involving ankle and foot
Hemarthrosis involving forearm
Hemarthrosis involving hand
Hemarthrosis involving lower leg
Hemarthrosis involving pelvic region and thigh
Hemarthrosis involving shoulder region
Hemarthrosis involving upper arm
Hemarthrosis of ankle and/or foot
Hemarthrosis of forearm
Hemarthrosis of hand
Hemarthrosis of lower leg
Hemarthrosis of shoulder
Hemarthrosis of shoulder region
Hemarthrosis of the ankle and foot
Hemarthrosis of the ankle and/or foot
Hemarthrosis of the forearm
Hemarthrosis of the hand
Hemarthrosis of the lower leg
Hemarthrosis of the shoulder region
Hemarthrosis of the upper arm
Hemarthrosis of upper arm
Hemarthrosis of the pelvic region and thigh
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.
Pineal meningioma
Inverted papilloma of the Frontal sinus
Occlusion and stenosis of carotid artery
A substance abuse that involves the recurring use of cocaine despite negative consequences.
A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.
An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone.
Epiphyseal necrosis
Osteochondrosis
apophysitis
epiphysitis
osteochondritis
osteochondritis juvenilis
An arthritis that involves infection by a pathogen located_in joint.
infectious arthritis
Lymphoma of the gallbladder
benign oncocytoma of the thyroid
malignant melanoma of gallbladder
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.
An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
Myocardial inflammation
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.
late syphilis
Apical periodontitis
chronic pericementitis
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.
Retractile mesenteritis
acute generalized peritonitis
primary bacterial peritonitis
sclerosing mesenteritis
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.
Infestation by Sarcoptes scabiei
Infestation by Sarcoptes scabiei var hominis
Sarcoptic itch
A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
mixed endometrial stromal and smooth muscle tumor
A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells.
Stromomyoma
An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.
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.
acute appendicitis
acute appendicitis with generalized peritonitis
acute appendicitis with peritoneal abscess
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.
C3 deficiency
An arthritis that has_material_basis_in worn out cartilage located_in joint.
Osteoarthrosis and allied disorder
degenerative arthritis
degenerative joint disease
hypertrophic arthritis
osteoarthrosis
An ischemic bone disease that results_in necrosis located_in epiphysis.
OCD
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.
alveolitis
hypersensitivity pneumonitis
Angiomyolipoma of kidney
renal Angiomyolipoma
Infantile fibrosarcoma
A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.
Erythrocythemia
A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction.
Afferent limb syndrome
Postgastric surgery syndrome
Ileus of intestine
A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus.
Brachial plexus lesions
An intestinal obstruction characterized by abnormal rotation of the intestines.
Twist of intestine, bowel, or colon
Volvulus
familial intestinal malrotation
volvulus of midgut
Intussusception
Intussusception of intestine
Invagination of intestine or colon
A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes.
Affective personality disorder
Cycloid personality
Cyclothymia
Cyclothymic personality
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.
vitamin B2 deficiency
Niacin-tryptophan deficiency
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.
Niacin deficiency
Pellagra
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.
A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
degeneration of retina
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.
Influenza with non-respiratory manifestation
Influenza with other manifestations
flu
Morphea
Scleroderma, circumscribed or localised
Scleroderma, circumscribed or localized
circumscribed scleroderma
localised morphea
localised morphoea
localised scleroderma
localized morphea
Whipple's disease
intestinal lipodystrophy
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.
Actinomycotic madura foot
Actinomycotic mycetoma of foot
Madura foot due to Actinomadura
Actinomycotic mycetema
actinomycetoma
actinomycotic infection
boil
Inflammatory disorder of joint
A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.
Rheumatic degeneration of myocardium
Rheumatic fever with myocarditis
Rheumatic myocarditis
Rheumatoid myocarditis
active rheumatic fever with myocarditis
acute Rheumatic Myocarditis
acute rheumatic carditis
acute rheumatic myocarditis
Retinal artery occlusion
A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
Congenital night blindness
A retinal disease that is characterized by difficulty or the inability to see in relatively low light.
Updating out dated CUI and removing lung abscess as a synonym.
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.
Retinal Dystrophy
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.
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.
Dermatitis herpetiformis
Dermatosis herpetiformis
Duhring's disease
An autoimmune disease of skin and connective tissue characterized by large blisters.
Bullous pemphigoid
Sneddon-Wilkinson disease or syndrome
Subcorneal pustular dermatosis
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.
cardiopulmonary disease
pulmonary heart disease
Schilling's leukaemia
A myeloid leukemia that is characterized by a dominance of monocytes in the marrow.
Schilling's leukemia
monocytic leukaemia
A pharynx cancer that is located_in the hypopharynx.
Hypopharyngeal cancer
malignant Hypopharyngeal tumor
malignant neoplasm of hypopharynx
malignant tumor of hypopharynx
malignant tumour of hypopharynx
Acid reflux
Gastresophageal reflux
Gastro-esophageal reflux
Gastroesophageal reflux disease
Gastroesophageal reflux
GERD - Gastro-esophageal reflux disease
GERD
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.
Shingles
herpes zona
histiocytic lymphoma
large-cell Lymphomas
A connective tissue disease that characterized by connective tissue disease that has_material_basis in inheritable defects in collagen.
collagen disorder
Sezary disease
Sezary syndrome
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.
CFS
Myalgic encephalomyelitis
Myalgic encephalitis
Postviral fatigue syndrome
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.
anesthesia related hyperthermia
malignant hyperpyrexia due to anesthesia
Callous ulcer
Indolent ulcer
A myeloid leukemia that is characterized by over production of white blood cells.
CML - chronic Myelogenous Leukemia
Myeloid Leukemia, chronic
CML
chronic granulocytic leukaemia
chronic granulocytic leukemia
chronic myelogenous leukaemia
chronic myelogenous leukemia
chronic myeloid leukaemia
Pyoderma gangrenosum
A pharynx cancer that is located_in the oropharynx.
Oropharyngeal carcinoma
malignant Oropharyngeal tumor
malignant tumor of oropharynx
malignant tumour of mesopharynx
oropharyngeal cancer
A multiple carboxylase deficiency that involves a deficiency in biotinidase.
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
BTD deficiency
deficiency of biotinidase
malignant neoplasm of commissure of lip
malignant neoplasm of external Lip, not specified as upper or lower
malignant neoplasm of labial commissure of lip
malignant neoplasm of lip
malignant neoplasm of lip, external
malignant neoplasm of lip, inner aspect
malignant neoplasm of lip, vermilion border
malignant neoplasm of lower lip, buccal aspect
malignant neoplasm of lower lip, inner aspect
malignant neoplasm of lower lip, mucosa
malignant neoplasm of lower lip, oral aspect
malignant neoplasm of oral aspect of lip, not specified whether upper or lower
malignant neoplasm of other sites of lip
malignant neoplasm of vermilion border of lip
malignant tumor of commissure of lip
malignant tumor of labial mucosa
malignant tumor of lip
malignant tumor of lower labial mucosa
malignant tumor of the Lip
malignant tumour of labial commissure
malignant tumour of lip
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.
Herpesvirus hominis disease
A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Hodgkin lymphoma
Hodgkin's sarcoma
Hodgkin disease
Hodgkins lymphoma
stage I Subdiaphragmatic Hodgkin Lymphoma
stage II Subdiaphragmatic Hodgkin Lymphoma
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.
Gammaherpesviral mononucleosis
Filatov's disease
Monocytic angina
Pfeiffer's disease
glandular fever
mononucleosis
An amino acid metabolic disorder that involves failures of carboxylation enzymes.
Pinkus' disease
A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
Left-sided ulcerative colitis
malignant tumor of soft palate
malignant tumor of the soft Palate
Burkitt lymphoma/leukaemia
A mature B-cell neoplasm of B-cells found in the germinal center.
Burkitt's Lymphoma
Burkitt's tumor
Burkitt's tumor or lymphoma
malignant lymphoma, Burkitt's type
small Non-Cleaved cell Lymphoma, Burkitt's type
A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
Multiple carboxylase deficiency - neonatal onset
Biotin-(propionyl-CoA-carboxylase) ligase deficiency
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.
Scarlatina
Induratio penis plastica
Peyronie disease
Peyronie's Fibromatosis
A gastrointestinal system cancer that is located_in the oral cavity.
malignant neoplasm of floor of mouth
A sleep disorder that involves recurring bouts of excessive amounts of sleepiness.
primary recurrent hypersomnia
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.
morbilli
A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
Corneal Kaposi's sarcoma
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).
Conjunctival Kaposi's sarcoma
Cutaneous Kaposi's sarcoma
Kaposi's sarcoma of penis
African lymphadenopathic Kaposi's sarcoma
Kaposi sarcoma
Kaposi's sarcoma of Heart
Kaposi's sarcoma of anus
Kaposi's sarcoma of central nervous system
Kaposi's sarcoma of conjunctiva
Kaposi's sarcoma of cornea
Kaposi's sarcoma of esophagus
Kaposi's sarcoma of gastrointestinal sites
Kaposi's sarcoma of lung
Kaposi's sarcoma of lymph nodes
Kaposi's sarcoma of palate
Kaposi's sarcoma of skin
Kaposi's sarcoma of soft tissue
Kaposi's sarcoma of soft tissues
Kaposi's sarcoma of the CNS
Kaposi's sarcoma of the gallbladder
Kaposi's sarcoma of the prostate
Kaposi's sarcoma, lung
Kaposi's sarcoma, skin
Kaposi's sarcoma-associated herpesvirus (KSHV)
Palate Kaposi's sarcoma
anal Kaposi's sarcoma
cardiac Kaposi's sarcoma
central nervous system Kaposi's sarcoma
conjunctival Kaposi's sarcoma
corneal Kaposi's sarcoma
cutaneous Kaposi's sarcoma
esophageal Kaposi's sarcoma
gallbladder Kaposi's sarcoma
gastric Kaposi's sarcoma
intestinal Kaposi's sarcoma
lymph node Kaposi's sarcoma
lymphadenopathic Kaposi's sarcoma
palate Kaposi's sarcoma
penis Kaposi's sarcoma
prostate Kaposi's sarcoma
pulmonary Kaposi's sarcoma
soft tissue Kaposi's sarcoma
chronic intestinal vascular insufficiency
chronic mesenteric ischemia
CMI - chronic mesenteric ischaemia
An in situ carcinoma that is located_in the prostate.
PIN III
carcinoma in situ of prostate
grade III PIN
Hemorrhagic duodenitis
malignant neoplasm of tongue
A vascular disease that is characterized by inflammation of the blood vessels.
Angiitis
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.
varicella
A vascular disease that is located_in a vein.
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.
ENTEROCOLITIS NECROTIZING
Necrotizing enterocolitis in fetus OR newborn
Perinatal necrotising enterocolitis
Perinatal necrotizing enterocolitis
Pseudomembranous enterocolitis in newborn
necrotizing enterocolitis
Granulocytic sarcoma
Chloroma
Extramedullary Myeloid tumor
Cutaneous carcinoma in situ
A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues.
carcinoma in situ of skin
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.
Mycosis fungoides
mycosis fungoides lymphoma
A leukemia that is located_in myeloid tissue.
Non-Lymphocytic Leukemia
leukaemia myelogenous
leukemia myelogenous
myeloid granulocytic leukaemia
myeloid granulocytic leukemia
myeloid leukaemia
A nervous system disease that is located_in nerves or nerve cells.
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.
Genital herpes simplex
Herpes Genitalis
Virus-Genital Herpes
venereal herpes
Acoustic neurofibromatosis
Recklinghausen's neurofibromatosis
central Neurofibromatosis
peripheral Neurofibromatosis
von Reklinghausen disease
Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.
Decubitus (pressure) ulcer
Decubitus ulcer any site
bedsore
pressure sores
pressure ulcer
A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.
A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.
Multi Infarct Dementia
multifocal dementia
Ordinary smallpox
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.
A pneumonia involving inflammation of the lungs caused by bacteria.
Pneumonia due to other gram-negative bacteria
gram-negative pneumonia
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.
SKIN SEBORRHEIC
Seborrhoeic dermatitis
Seborrhoeic eczema
seborrhea
Erythema infectiosum
Fifth disease
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.
Megakaryocytic myelosis
Thrombocytic leukaemia
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.
Ecthyma contagiosum
Ecthyma, Contagious
Orf
scabby mouth
sheep pox
thistle disease
Crohn disease
Crohn's disease of colon
Crohn's disease of large bowel
Granulomatous Colitis
MESH:C536215 added from NeuroDevNet [WAK].
An intestinal disease that involves inflammation located_in intestine.
Pediatric Crohn's disease
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.
german measles
An in situ carcinoma that is located_in the breast.
Non-Infiltrating carcinoma of breast
carcinoma in situ of breast
An in situ carcinoma that is located_in the lung.
Angina at rest
Anginal chest pain at rest
Impending infarction
Preinfarction angina
Unstable angina
Worsening angina
An intestine carcinoma in situ that is located_in the colon.
carcinoma in situ of colon
stage 0 Colonic carcinoma
parasitic helminthiasis infectious disease
A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.
helminth infection
helminthiasis
helminthosis
worm infection
Classical Hodgkin lymphoma, nodular sclerosis
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.
Infection by Metagonimus yokogawai
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.
Fasciola hepatica infection
Infection by Fasciola
Liver flukes
Sheep liver fluke infection
An oral cavity cancer that is located_in the salivary gland.
malignant neoplasm of salivary gland
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.
lupus
A monocytic leukemia where the majority of monocytic cells are promonocytes.
acute Monoblastic Leukemia and acute Monocytic Leukemia
acute monocytic leukaemia
acute monocytic leukaemia without mention of remission
acute monocytic leukemia without mention of remission
acute monocytic leukemia, FAB M5
acute monocytic leukemia, morphology
SK - Solar keratosis
Senile hyperkeratosis
Solar keratosis
actinic (Solar) Keratosis
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.
Devic's disease
Devic's syndrome
A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).
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.
Infection by Fasciolopsis buski
Infectious Disease by Fasciolopsis
Acne roscea
Acne, erythematosa
retinochoroiditis
A skin disease that is characterized by patches of thick red skin and silvery scales.
Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860.
A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death.
PME
progressive Myoclonus epilepsy
progressive myoclonic epilepsy
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.
Infection by Cladosporium werneckii
Keratomycosis nigricans
Tinea palmaris nigra
microsporosis nigra
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.
A skin cancer that has_material_basis_in melanocytes.
cutaneous melanoma
malignant ear melanoma
malignant lip melanoma
malignant lower limb melanoma
malignant melanoma of ear and/or external auricular canal
malignant melanoma of skin of lower limb
malignant melanoma of skin of trunk except scrotum
malignant melanoma of skin of upper limb
malignant neck melanoma
malignant scalp melanoma
malignant trunk melanoma
malignant upper limb melanoma
A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.
Idiopathic purpura
Autoimmune thrombocytopenic purpura
Ideopath thrombocytopenic pur
Immune thrombocytopenic purpura
idiopathic thrombocytopenic purpura
primary thrombocytopenic purpura
werlhof's disease
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.
Academic skill disorder
learning disorder
gastric atrophy
Cerebral pseudosclerosis
Westphal pseudosclerosis
Westphal-Strumpell syndrome
Wilson's disease
hepatolenticular degeneration
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.
familial amyloid neuropathy, Finnish type
severe nonproliferative diabetic retinopathy
High risk non proliferative diabetic retinopathy
Severe NPDR
Retinal abnormality - diabetes-related
An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
ANEMIA SIDEROBLASTIC
Anemia, hypochromic with iron loading
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.
yaba
An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
inborn metal metabolism disorder
A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant.
Immunosuppressive measles encephalitis
Subacute Sclerosing Panencephalitis
Subacute sclerosing panencephalitis
Van Bogaert's sclerosing leukoencephalitis
subacute sclerosing leukoencephalopathy
autosomal dominant polycystic kidney disease
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.
Congenital biliary ectasias
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease.
An uterus carcinoma in situ that is located_in the uterine cervix.
CIN III - carcinoma in situ of cervix
CIN III - severe dyskaryosis
CIN III
Cervix Ca in situ
Severe Dysplasia of the Cervix Uteri
Severe dysplasia of cervix
carcinoma in situ of cervix
carcinoma in situ of uterine cervix
carcinoma of cervix stage 0
cervical intraepithelial neoplasia grade III with severe dysplasia
squamous intraepithelial neoplasia, grade III
A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.
Proliferative polycythaemia
Osler-Vaquez syndrome
Polycythaemia rubra vera
A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
cervical disc degenerative disease
intervertebral disc degeneration
lumbar disc degeneration
vertebral disc disease
Hepatopulmonary syndrome
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.
Cot death
Crib death
SIDS
Sudden death of nonspecific cause in infancy
Sudden infant death syndrome
An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.
arthritis psoriatica
arthropathic psoriasis
psoriatic arthropathy
An in situ carcinoma that is located_in the intestine.
A salivary gland cancer that is located_in the parotid gland.
cancer of parotid gland
malignant neoplasm of the Parotid
malignant tumor of parotid gland
parotid cancer
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.
cerebrohepatorenal syndrome
congenital iron overload
peroxisome biogenesis disorder
An in situ carcinoma that is located_in the bladder.
Flat CIS of the urinary bladder
bladder Ca in situ
carcinoma in situ of bladder
An inherited metabolic disorder that involves peroxisome malfunction.
peroxisomal disorder
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.
Infection by Pityrosporum furfur
Pityriasis versicolor
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.
Dermatitis exfoliativa neonatorum
Pemphigus neonatorum
Ritter disease
Scalded skin syndrome
Staphylococcal scalded skin syndrome
Toxic epidermal necrolysis, subcorneal type
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).
Post Kala-Azar Dermal Leishmaniasis
Post-kala-azar dermal leishmaniasis
post-kala-azar dermal infectious disease by leishmaniasis
Midfacial Necrotising Lesion
malignant granuloma of face
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.
Lupus Erythematosus, systemic
SLE - Lupus Erythematosus, systemic
disseminated lupus erythematosus
primary macroglobulinemia
A skin disease that is located_in the sebaceous gland.
An in situ carcinoma that is located_in the uterus.
Asian Desert Cutaneous Leishmaniasis
A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
Leproid leishmaniasis
diffuse cutaneous leishmaniasis
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.
Granuloma Inguinale
Granuloma inguinale
Pudendal ulcer
donovanosis
pudendal ulcer
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.
AML - acute Myeloid Leukemia
Leukemia, Myelocytic, acute
acute myeloblastic leukaemia
acute myeloblastic leukemia
acute myelogenous leukaemia
acute myelogenous leukemia
acute myeloid leukaemia
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.
amyloid disease
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.
Herpes simplex dermatitis of eyelid
Herpes simplex virus dermatitis
Eczema herpeticum
Herpes simplex eyelid dermatitis
herpes simplex dermatitis
herpes simplex virus eyelid dermatitis
An in situ carcinoma that is located_in the stomach.
carcinoma in situ of stomach
gastric carcinoma in situ
hepatic peliosis
Infection by visceral leishmaniasis
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.
Kala-Azar
malignant neoplasm of hard palate
malignant tumor of hard palate
malignant tumour of hard palate
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.
American Cutaneous Leishmaniasis
American cutaneous leishmaniasis
American mucocutaneous leishmaniasis
Cutaneous leishmaniasis, American
Mucocutaneous leishmaniasis
Mucocutaneous leishmaniasis, American
New World cutaneous leishmaniasis
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.
Gas bacillus infection
Gas gangrene
Myonecrosis
epithelial hepatic and intrahepatic bile duct neoplasm
Lack of reflex relaxation of lower oesophageal sphincter
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.
achalasia of cardia
achalasia of esophagus
cardiospasm
esophageal achalasia
hypertensive lower esophageal sphincter
Dermatitis artefacta
Dermatitis factitia
Factitious skin disease
Dermatitis ficta
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).
Wiskott syndrome
Inflammatory Pseudotumor of the Liver
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.
amoebiasis
chronic intestinal amebiasis
entamoebiasis
A bullous skin disease that is characterized by blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).
Dyskinesia of oesophagus
Oesophageal dysmotility
Oesophageal motor disorder
esophageal dysmotility
esophageal motility disorder
A communication disorder that involves difficulty with the act of speech production.
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.
Lichen, ruber planus
lichen ruber planus
Barrett's esophagus with esophagitis
Barrett's oesophagus
Barrett's ulcer of esophagus
Barretts syndrome
Barrett esophagus
ulcerative esophagitis
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.
Geniculate herpes zoster
Herpes Zoster Oticus
Herpes zoster auricularis
Herpetic geniculate ganglionitis
Ramsay Hunt syndrome type 2
Ramsay Hunt syndrome type II
Ramsey Hunt syndrome
geniculate neuralgia
nervus intermedius neuralgia
A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma.
Devergie's disease
Pityriasis rubra pilaris
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.
central sleep apnea syndrome
primary central sleep apnea
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.
Cheiropompholyx
DYSHYDROTIC ECZEMA
Vesicular eczema of hands and/or feet
dyshidrosis
A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature.
erythermalgia
A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
Arteriohepatic dysplasia
Alagille-Watson syndrome
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.
Cerebral Hemorrhage, Hereditary, with Amyloidosis
Hereditary Cerebral Hemorrhage with Amyloidosis
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.
A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
ACLS
SCHINZEL ACROCALLOSAL SYNDROME
Schinzel syndrome 1
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
inborn errors of amino acid metabolism
GANT
GIST
Stromal tumor of gastrointestinal tract
Stromal tumour of gastrointestinal tract
gastrointestinal stromal tumour
A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood.
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.
Wilhemsen-Lynch disease
frontotemporal lobar degeneration
multiple system tauopathy with presenile dementia
pallidopontonigral degeneration
A large intestine cancer that is located_in the colon and/or located_in the rectum.
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.
Waardenburg Shah syndrome
Waardenburg syndrome
Waardenburg, types I and/or II
van der Hoeve Halbertsona Waardenburg syndrome
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.
Nasopharyngeal carcinoma
carcinoma of nasopharynx
malignant Nasopharyngeal tumor
malignant neoplasm of nasopharynx
nasopharynx cancer
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
CBS deficiency
cystathionine beta synthase deficiency
cystathionine synthase deficiency
An amino acid metabolic disorder that involves deficiency in histidine.
Disturbances of histidine metabolism
An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
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.
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
disorder of urea cycle metabolism
urea cycle defect
An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
Non-ketotic hyperglycinemia
nonketotic hyperglycinemia
dihydrolipoamide dehydrogenase deficiency
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.
Ketoacidaemia
branched chain ketoaciduria
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.
Homogentisate 1,2-dioxygenase deficiency
alcaptonuria
deficiency of homogentisicase
ornithine carbamoyltransferase deficiency
An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
deficiency of citrulline phosphorylase
ornithine transcarbamylase deficiency
An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
argininemia
Arginase deficiency
deficiency of canavanase
An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.
carbamoyl phosphate synthetase I deficiency disease
A urea cycle disorder that involves accumulation of ammonia in the blood.
CPS I deficiency
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
Folling's disease
PKU
maternal phenylketonuria
phenylalaninemia
An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.
A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
Mentulagra
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.
Labium leporinum
cheiloschisis
cleft lip, unilateral, complete
complete unilateral cleft lip
hare lip
disease of lips
A communication disorder that involves the processing of linguistic information.
An adnexa disease that is located_in the eye socket.
Procidentia, rectum
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.
Blind spot area scotoma
Enlarged angioscotoma
Enlarged blind spot
Enlarged paracaecal scotoma
Generalized visual field contraction or constriction
Scotoma of blind spot area
Sector or arcuate visual field defects
A disease by infectious agent that results in infection, has_material_basis_in Viruses.
Viral Infection
Viral disease
virus infection
Congestion-fibrosis syndrome
Taylor syndrome
pelvic congestion syndrome
Carotid artery dissection
Dissection of carotid artery
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.
A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
NIDDM
non-insulin-dependent diabetes mellitus
type 2 diabetes
type II diabetes mellitus
A central nervous system disease that is located_in the brain.
encephalopathy
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.
Asthma with status asthmaticus
Severe asthma attack
Seminal vesiculitis
An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
proptosis
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.
Fuch's Heterochromic iridocyclitis
Fuchs uveitis syndrome
Fuchs' heterochromic cyclitis
primary iridocyclitis
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.
acute tracheitis
chronic tracheitis
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.
Croup syndrome
Laryngotracheobronchitis
acute Obstructive Laryngitis
acute laryngotracheobronchitis
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.
acute epiglottitis
acute epiglottitis and supraglottitis
A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
Pituitary hypofunction
Pituitary insufficiency
pituitary hormone deficiency
An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow.
Raised intracranial pressure
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.
renal diabetes
A bile duct disease that is an inflammation of the bile duct.
A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis.
Fatty change of liver
Steatosis of liver
alcoholic fatty liver
hepatic lipidosis
A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
Lipoid storage diseas
Lipoidosis
inborn lipid storage disorder
lipoidosis
A uterine cancer that is located_in the uterine corpus.
corpus uteri cancer
Exposure keratoconjunctivitis
lagophthalmic keratitis
An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections.
swimmer's ear
Fong disease
A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in LMX1B on chromosome 9q33.3.
Turner-Kiser syndrome
hereditary onychoostedysplasia
iliac horn syndrome
nail patella syndrome
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.
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.
pulmonary artery embolism
pulmonary embolus
A hematopoietic system disease that is located_in white blood cells.
A substance abuse that involves the recurring use of cannabis despite negative consequences.
marijuana abuse
A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead.
ethmoidal sinusitis
ethmoiditis
Laron-type isolated somatotropin defect
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.
A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease.
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.
A myeloid neoplasm that is located_in the plasma cells in bone marrow.
plasma cell myeloma
An endocrine system disease that is located_in the adrenal gland.
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.
ciliary motility disorder
immotile ciliary syndrome
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.
Polynesian bronchiectasis
Heart predominantly in right hemithorax
Atresia of nares
Imperforate nares
posterior choanal atresia
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.
Neonatal Candida infection
Neonatal candida infection
Neonatal monilia infection
neonatal moniliasis
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.
Venezuelan equine fever
A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.
A connective tissue disease characterized by inflammation located in the fascia.
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.
Staphylococcal food poisoning
Staphylococcal toxaemia due to food
staphyloenterotoxicosis
A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
vesico-ureteral reflux
Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI.
A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
Isaacs syndrome
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.
A mouth disease that is characterized by inflammation of the mouth and lips.
Sarcosporidiosis
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.
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.
Babesiasis
Infection by babesia
piroplasmosis
A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.
A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.
Aphtha
Aphthous ulceration
Canker sore
Oral aphthae
Oral aphthous ulcer
oral ulcer
A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
abruptio placenta
abruptio placentae
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.
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.
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.
Sylvatic yellow fever
Yellow fever, sylvan
jungle yellow fever
urban yellow fever
A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge.
Gonococcal conjunctivitis
Gonococcal ophthalmia neonatorum
Neonatal conjunctivitis
Inflammation of tendon sheath
Purulent conjunctivitis
Obstruction of gallbladder
neovascular inflammatory vitreoretinopathy
ADNIV
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.
Retinitis proliferans
autosomal dominant neovascular inflammatory vitreoretinopathy
proliferative vitreoretinopathy
An eye and adnexa disease that is located in the vitreous of the eye.
An urogenital tuberculosis that results_in formation of granulomas located_in kidney.
Tuberculosis of kidney
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.
A respiratory system disease which involves the upper respiratory tract.
A varicose veins that is located_in the pelvis.
Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues.
Gaseous pericholecystitis
cardiac aneurysm
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.
IBD
Irritable colon
Psychogenic IBS
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.
Trichinella spiralis infection
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.
Infection by Toxascaris
Toxocara infection
visceral larva migrans
Choroidal degenerations
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.
anti-GBM disease
anti-glomerular basement membrane disease
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.
A vasculitis that is characterized by necrotizing inflammation of medium or small arteries.
progressive Choroidal Atrophy
Choroidal dystrophy, central areolar
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.
Drug withdrawal syndrome in newborn
Far-sightedness
hypermetropia
A strabismus that is characterized the eye which turns inward toward the nose.
Convergence in manifest squint
Internal Strabismus
crossed eyes
labyrinthine hydrops
A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.
Meniere disease
Mnire's vertigo
Otogenic vertigo
Circumscribed alopecia
An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
hereditary fructose intolerance syndrome
Fructosaemia
Fructose-1,6-bisphosphate aldolase B deficiency
Fructosemia
A hypotrichosis that is characterized by a loss of hair from the head or body.
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
Galactosaemia
Galactose intolerance
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.
Barlow's syndrome
floppy mitral valve
mitral leaflet syndrome
myxomatous mitral valve prolapse
systolic click-murmur syndrome
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.
Benign pseudohypertrophic muscular dystrophy
benign congenital myopathy
A myopathy is characterized by progressive skeletal muscle weakness degeneration.
An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life.
Alopecia mucinosa
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.
Boil of eyelid
Furuncle of eyelid
Stye
A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired.
An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland.
Meningococcal hemorrhagic adrenalitis
chronic inflammation of lacrimal passage
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.
An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge.
lacrimal mucocele
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.
Corticosteroid-induced glaucoma
precursor lymphoblastic lymphoma/leukemia
A acute leukemia that is characterized by over production of lymphoblasts.
acute lymphoblastic leukaemia
acute lymphoblastic leukemia
acute lymphocytic leukaemia
A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.
A uterine disease that is characterized by the presence of blood in the uterine cavity.
Hematometra
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.
disseminated toxoplasmosis
A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth.
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.
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.
A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance.
A substance dependence that involves the continued use of drugs despite problems related to use of the substance.
A drug dependence that is a psychological dependency on the regular use of cocaine.
An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance.
Eosinophilia myalgia syndrome
A tertiary syphilis that results in infection located in brain or located in spinal cord.
late neurosyphilis
A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs.
Eosinophilic leukocytosis
eosinophilia
A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.
Hypoglycaemia