Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
alpha-N-acetylgalactosaminidase deficiency type 2	MONDO_0012222	[Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.]
hypertrophic cardiomyopathy 26	MONDO_0014883	[Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.]
striatonigral degeneration, childhood-onset	MONDO_0014889
inherited dystonia	MONDO_0044807	[An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.]
Pseudomonas syringae pv. japonica	NCBITaxon_199200	[Pseudomonas syringae pv. japonica, which attacks barley, is one othe patovars of P. syringae.]
Pseudomonas	NCBITaxon_286	[Pseudomonas is a genus of Gram-negative, aerobic gammaproteobacteria, belonging to the family Pseudomonadaceae containing 191 validly described species.]
MIRAGE syndrome	MONDO_0014888	[An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.]
obsolete_Prader-Willi-like syndrome	Orphanet_398073
Griscelli syndrome type 3	MONDO_0012220	[A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.]
Prader-Willi-like syndrome due to point mutation	Orphanet_398079
obsolete_Han Chinese	EFO_0003161	[Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China)]
obsolete_Filipino	EFO_0003160	[Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.]
obsolete_Irish	EFO_0003163	[Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.]
obsolete_Iranian	EFO_0003162	[Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.]
obsolete_Korean	EFO_0003165	[Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.]
Adenoma sebaceum	HP_0009720	[The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.]
obsolete_Japanese	EFO_0003164	[Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.]
obsolete_Pima Indian	EFO_0003167
Dental enamel pits	HP_0009722	[The presence of small depressions in the dental enamel.]
obsolete_Latino	EFO_0003166	[A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.]