|
DOID:0111381 - IVIC syndrome
Disease Ontology Definition:A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2.
Synonyms: Instituto Venezolano de Investigaciones Cientificas syndrome, OORS, Oculootoradial syndrome, oculo-oto-radial syndrome, radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia,
Xenbase Genes
:
sall4
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)