Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
GM17121	CLO_0015115	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50]
GM17122	CLO_0015117	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50]
GM17123	CLO_0015119	[HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50]
GM17120	CLO_0015112	[UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100]
Mycoplasma gallisepticum	NCBITaxon_2096
Mycoplasma genitalium	NCBITaxon_2097
Mycoplasma hyopneumoniae	NCBITaxon_2099
Ichthyosis-hypotrichosis syndrome	Orphanet_91132
Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism	Orphanet_91133
Cardiomyopathy - hypotonia - lactic acidosis	Orphanet_91130
obsolete_DK1-CDG	Orphanet_91131
obsolete_body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	Orphanet_91135
obsolete_erythrokeratoderma variabilis progressiva	Orphanet_308166
obsolete_moderate multiminicore disease with hand involvement	Orphanet_178145
Potato virus X	NCBITaxon_12183
obsolete_antenatal multiminicore disease with arthrogryposis multiplex congenita	Orphanet_178148
obsolete_childhood disintegrative disorder	Orphanet_168782
nanophthalmia	MONDO_0005514	[Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.]
Panicum virgatum	NCBITaxon_38727
apodia, bilateral	MONDO_0017505