Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_transient bullous dermolysis of the newborn	Orphanet_79411
obsolete_woolly hair nevus	Orphanet_79414
obsolete_pretibial dystrophic epidermolysis bullosa	Orphanet_79410
Euphorbia pulcherrima	NCBITaxon_37495
Francisella tularensis subsp. tularensis SCHU S4	NCBITaxon_177416
Sickle cell - hemoglobin E disease	Orphanet_251375
Sickle cell - hemoglobin D disease	Orphanet_251370
2-hydroxypalmitate	CHEBI_65097	[A hydroxy fatty acid anion that is the conjugate base of 2-hydroxypalmitic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3.]
obsolete_junctional epidermolysis bullosa inversa	Orphanet_79405
Junctional epidermolysis bullosa, Herlitz type	Orphanet_79404	[Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.]
Hereditary epidermolysis bullosa associated with ocular features	Orphanet_263676
obsolete_ATR-X-related syndrome	Orphanet_263355
obsolete_late-onset junctional epidermolysis bullosa	Orphanet_79406
Epidermolysis bullosa simplex, Ogna type	Orphanet_79401	[Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering.]
Localized epidermolysis bullosa simplex	Orphanet_79400	[Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.]
Junctional epidermolysis bullosa - pyloric atresia	Orphanet_79403	[Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.]
Generalized junctional epidermolysis bullosa, non-Herlitz type	Orphanet_79402	[Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.]
GM17852	CLO_0016449	[HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100]
obsolete_Hereditary persistence of fetal hemoglobin - sickle cell disease	Orphanet_251380
Collimonas	NCBITaxon_202907