Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Saethre-Chotzen syndrome	Orphanet_794	[Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.]
entropion	MONDO_0001519	[The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)]
obsolete_X-linked retinoschisis	Orphanet_792	[X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.]
obsolete_retinitis pigmentosa	Orphanet_791
obsolete_retinoblastoma	Orphanet_790
auriculoosteodysplasia	MONDO_0007177	[Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.]
helicoid peripapillary chorioretinal degeneration	MONDO_0007176	[Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.]
obsolete rare eyelid malformation	MONDO_0020152
Banki syndrome	MONDO_0007185	[Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.]
folic acid transporter activity	GO_0008517	[Enables the directed movement of folic acid (pteroylglutamic acid) into, out of or within a cell, or between cells. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines.]
bile	UBERON_0001970	[Vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium.]
6q terminal deletion syndrome	MONDO_0019164	[6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.]
aniridia	MONDO_0019172	[Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).]
major induction processes eye anomaly	MONDO_0020146
primary basilar invagination	MONDO_0007188	[Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.]
nevoid basal cell carcinoma syndrome	MONDO_0007187	[A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.]
malignant tumor of palpebral epidermis	MONDO_0020175	[A cancer that involves the skin of eyelid.]
familial bicuspid aortic valve	MONDO_0007194	[A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).]
odontoleukodystrophy	MONDO_0019177	[Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.]
monosomy 9q22.3	MONDO_0019179	[Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.]