Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_hypertrichosis-acromegaloid facial appearance syndrome	Orphanet_966
obsolete_acromegaloid facial appearance syndrome	Orphanet_965
obsolete_developmental and speech delay due to SOX5 deficiency	Orphanet_313892
Spondyloepimetaphyseal dysplasia - abnormal dentition	Orphanet_168451
Sydney crease	HP_0011311	[Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.]
Neonatal hypoglycemia	HP_0001998
facial cleft	MONDO_0015411	[A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.]
lateral facial cleft	MONDO_0015418
Tessier number 6 facial cleft	MONDO_0015417
Tessier number 5 facial cleft	MONDO_0015416
obsolete_late infantile neuronal ceroid lipofuscinosis	Orphanet_168491
functioning pituitary gland adenoma	MONDO_0003429	[A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.]
functioning pituitary gland neoplasm	MONDO_0003604	[A hormone producing pituitary gland tumor, associated with a hormonal syndrome.]
obsolete_ADULT syndrome	Orphanet_978
obsolete_adrenomyodystrophy	Orphanet_977
obsolete_adenine phosphoribosyltransferase deficiency	Orphanet_976
Congenital neuronal ceroid lipofuscinosis	Orphanet_168486	[Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.]
obsolete_Adams-Oliver syndrome	Orphanet_974
obsolete_congenital absence/hypoplasia of fingers excluding thumb, unilateral	Orphanet_973
obsolete_hereditary continuous muscle fiber activity	Orphanet_972