Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
adjustment disorder	MONDO_0003265	[A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.]
brachydactyly-mesomelia-intellectual disability-heart defects syndrome	MONDO_0015259	[Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).]
Genetic disorder of sex development	Orphanet_325690
sino-auricular heart block	MONDO_0015257
spinal atrophy-ophthalmoplegia-pyramidal syndrome	MONDO_0015250	[Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.]
blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome	MONDO_0015256
blepharophimosis-radioulnar synostosis syndrome	MONDO_0015255
Diamond-Blackfan anemia	MONDO_0015253	[A congenital aregenerative and often macrocytic anemia with erythroblastopenia.]
pure red-cell aplasia	MONDO_0001705	[A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.]
Epsilon-(gamma-Glutamyl)-lysine	CHEBI_88494	[An N(6)-acyl-L-lysine derivative in which the acyl group is specified as gamma-glutamyl.]
Ehlers-Danlos syndrome, classic-like, 2	MONDO_0054813
Stickler syndrome type 3	Orphanet_166100
leukodystrophy, hypomyelinating, 17	MONDO_0054817
middle ear cancer	MONDO_0003275	[A malignant neoplasm involving the middle ear]
malignant ear neoplasm	MONDO_0003277	[A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.]
obsolete_Intellectual disability, Birk-Barel type	Orphanet_166108
obsolete_FASTKD2-related infantile mitochondrial encephalomyopathy	Orphanet_166105
medullary sponge kidney	MONDO_0015268	[Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.]
Brugada syndrome	MONDO_0015263	[A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.]
Feingold syndrome	MONDO_0015267	[Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.]