| Metadata | |
|---|---|
| ID | DOID:0111381 |
| Name | IVIC syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/17256792, https://www.ncbi.nlm.nih.gov/pubmed/7395922 |
| Xrefs |
SNOMEDCT_US_2023_03_01:722019000 |
| Subsets |
DO_rare_slim |
| Synonyms |
Instituto Venezolano de Investigaciones Cientificas syndrome [EXACT] oculo-oto-radial syndrome [EXACT] Oculootoradial syndrome [EXACT] OORS [EXACT] radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |