Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
6-deoxocastasterone	CHEBI_20712
Angiokeratoma corporis diffusum	HP_0001071
cadherin-5 measurement	EFO_0008060	[quantification of the amount of cadherin-5 in a sample]
syndromic recessive X-linked ichthyosis	MONDO_0017264	[Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.]
Thickened skin	HP_0001072	[Laminar thickening of skin.]
calcineurin measurement	EFO_0008061	[quantification of the amount of calcineurin in a sample]
3-dehydro-6-deoxoteasterone	CHEBI_20710
carbohydrate sulfotransferase 15 measurement	EFO_0008066	[quantification of the amount of carbohydrate sulfotransferase 15 in a sample]
obsolete_ringed hair disease	Orphanet_169
carbonic anhydrase 13 measurement	EFO_0008067	[quantification of the amount of carbonic anhydrase 13 in a sample]
obsolete_loose anagen syndrome	Orphanet_168
carbonic anhydrase 6 measurement	EFO_0008068	[quantification of the amount of carbonic anhydrase 6 in a sample]
Chédiak-Higashi syndrome	Orphanet_167	[Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.]
Platelet storage pool disease	Orphanet_98454
carboxypeptidase B2 measurement	EFO_0008069	[quantification of the amount of carboxypeptidase B2 in a sample]
obsolete_Charcot-Marie-Tooth disease	Orphanet_166
disseminated candidiasis	MONDO_0042233	[Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.]
opportunistic systemic mycosis	MONDO_0045033	[A mycosis that arises from infection in an immunologically compromised host and is systemic.]
obsolete_neutral lipid storage disease	Orphanet_165
obsolete_hereditary hyperferritinemia with congenital cataracts	Orphanet_163