Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function	Orphanet_226307
obsolete_follicular atrophoderma-basal cell carcinoma	Orphanet_79459
Kallmann syndrome	MONDO_0018800	[Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).]
Oley syndrome	Orphanet_79458
Congenital absence of the eyebrow/eyelashes	Orphanet_98598
Palpebral tumor	Orphanet_98580
congenital bilateral absence of vas deferens	MONDO_0018801	[Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.]
non-syndromic urogenital tract malformation of male	MONDO_0015933	[A non-syndromic urogenital tract malformation that involves the male organism.]
Milroy disease	Orphanet_79452	[Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.]
Conjunctival lymphangiectasia	Orphanet_98614
Aegilops tauschii subsp. strangulata	NCBITaxon_200361	[Aegilops tauschii subsp. strangulata is one of the two subspecies of Aegilops tauschii.]
obsolete_Non hereditary congenital primary lymphedema	Orphanet_79450
obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut0	Orphanet_289916
glycoprotein biosynthetic process	GO_0009101
obsolete_pseudopseudohypoparathyroidism	Orphanet_79445
obsolete_pseudohypoparathyroidism type 1C	Orphanet_79444
obsolete_X-linked lethal multiple pterygium syndrome	Orphanet_79447
MSH3-related attenuated familial adenomatous polyposis	MONDO_0018812
obsolete_Pseudohypoparathyroidism type 1A	Orphanet_79443	[Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).]
obsolete limited scleroderma	MONDO_0006832