Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_bilateral frontoparietal polymicrogyria	Orphanet_101070
46,XY complete gonadal dysgenesis	MONDO_0010765	[46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.]
obsolete_familial spontaneous pneumothorax	Orphanet_2903
GM17284	CLO_0013092	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
GM17285	CLO_0013090	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
non-neoplastic nevus	MONDO_0022749	[A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.]
GM17286	CLO_0013086	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
isolated aniridia	MONDO_0007119	[Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.]
autosomal recessive omodysplasia	MONDO_0009779	[Autosomal recessive form of omodysplasia.]
caudal division of the internal carotid artery	UBERON_2001051
obsolete_congenital stromal corneal dystrophy	Orphanet_101068
hereditary neurocutaneous angioma	MONDO_0007116	[Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.]
Oliver syndrome	MONDO_0009777	[Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.]
future internal carotid artery	UBERON_2001053
Wieacker-Wolff syndrome	MONDO_0010758	[A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.]
Wieacker-Wolff syndrome (spectrum)	MONDO_0025445
spermatogenic failure 1	MONDO_0009776
lateral dorsal aorta	UBERON_2001054	[Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is is called the radiax of the aorta. Isogai et al. 2001.]
obsolete_Leri pleonosteosis	Orphanet_2900
angel-shaped phalango-epiphyseal dysplasia	MONDO_0007114	[Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.]