FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term IVIC syndrome ID (Ontology) DOID:0111381 (Human Disease)
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.
Also Known As "Instituto Venezolano de Investigaciones Cientificas syndrome" ; "oculo-oto-radial syndrome" ; "Oculootoradial syndrome" (for all, see Synonyms field below)
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 Genes
 IVIC syndrome       1
 for disease ribbon | IVIC syndrome       1
 model of | IVIC syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                IVIC syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Instituto Venezolano de Investigaciones Cientificas syndrome" EXACT
    "oculo-oto-radial syndrome" EXACT
    "Oculootoradial syndrome" EXACT
    "OORS" EXACT OMO:0003012
    "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT
Secondary IDs
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GARD:269
MESH:C535544
MIM:147750
ORDO:2307
SNOMEDCT_US_2023_03_01:722019000
UMLS_CUI:C1327918