About   Help   FAQ
Disease Ontology Browser
IVIC syndrome (DOID:0111381)
Alliance: disease page
Synonyms: Instituto Venezolano de Investigaciones Cientificas syndrome; oculo-oto-radial syndrome; Oculootoradial syndrome; OORS; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Alt IDs: OMIM:147750, MESH:C535544, ORDO:2307, UMLS_CUI:C1327918
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory