ZFIN Human Disease: IVIC syndrome

OBO ID: DOID:0111381

Term Name:	IVIC syndrome		Search Ontology:
Synonyms:	Instituto Venezolano de Investigaciones Cientificas syndrome oculo-oto-radial syndrome Oculootoradial syndrome OORS 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. (2)
References:	GARD:269 MESH:C535544 OMIM:147750 ORDO:2307 SNOMEDCT_US_2023_03_01:722019000 UMLS_CUI:C1327918
Ontology:	Human Disease ( DOID:0111381 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER IVIC syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SALL4	sall4	?IVIC syndrome	147750

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None