Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_otic placode	EFO_0003429	[Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the mid-segmentation period. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/ear/ear.html'>ear</a> by T. Whitfield.), Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the midsegmentation period. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/ear/ear.html'>ear</a> by T. Whitfield.)]
Genetic neuromuscular disease	Orphanet_183497
obsolete_Ehlers-Danlos syndrome type 7B	Orphanet_99876
Poecilia reticulata	NCBITaxon_8081
hypomyelinating leukodystrophy 13	MONDO_0014813	[Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.]
obsolete_Ehlers-Danlos syndrome type 7A	Orphanet_99875
Xiphophorus	NCBITaxon_8082
Primary parathyroids hyperplasia	Orphanet_99878
estrogen receptor antagonist role	CHEBI_50792	[An antagonist at the estrogen receptor.]
obsolete_familial parathyroid adenoma	Orphanet_99877
pancytopenia due to IKZF1 mutations	MONDO_0014810	[Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.]
common variable immunodeficiency	MONDO_0015517	[Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.]
Congenital dyserythropoietic anemia type IV	Orphanet_293825	[Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.]
obsolete_atypical Rett syndrome	Orphanet_3095
Arnold-Chiari malformation type I	Orphanet_268882
obsolete_Revesz syndrome	Orphanet_3088	[Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.]
obsolete_retinohepatoendocrinologic syndrome	Orphanet_3087
obsolete_autosomal dominant vitreoretinochoroidopathy	Orphanet_3086
zinc sulfate	CHEBI_35176	[A metal sulfate compound having zinc(2+) as the counterion.]
obsolete_presumptive brain	EFO_0003431