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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
IVIC syndrome
Summary
- Synonym
-
- Instituto Venezolano de Investigaciones Cientificas syndrome
- OORS
- Oculootoradial syndrome
- oculo-oto-radial syndrome
- radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111381
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
