Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
behavioral variant of frontotemporal dementia	MONDO_0017160	[Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.]
imperforate oropharynx-costo vetebral anomalies syndrome	MONDO_0017162	[Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.]
branchiostegal ray 3	UBERON_2001280	[Branchiostegal ray that is the third anterior-most ray in the adult.]
silver-russell syndrome 4	MONDO_0030118
branchiostegal ray 2	UBERON_2001281	[Branchiostegal ray that is the second anterior-most ray in the adult.]
severe combined immunodeficiency due to CARMIL2 deficiency	MONDO_0029134
muscular dystrophy, limb-girdle, autosomal dominant 4	MONDO_0029133
peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	MONDO_0029131
caudal vein plexus	UBERON_2001286
obsolete_Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type	Orphanet_394529
hearing loss, autosomal dominant 74	MONDO_0029137
chronic diarrheal disease	MONDO_0044751	[Chronic form of diarrheal disease.]
muscular dystrophy, limb-girdle, autosomal recessive 23	MONDO_0029136
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	MONDO_0029135
Abnormality of radial ray	HP_0410049
Elevated erythrocyte sedimentation rate	HP_0003565	[An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.]
osteochondritis dissecans	MONDO_0017178	[A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.]
Machado-Joseph disease type 1	MONDO_0017174	[Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.]
Machado-Joseph disease	MONDO_0007182	[Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.]
Machado-Joseph disease type 2	MONDO_0017175	[Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.]