ZFIN Human Disease: orofaciodigital syndrome V

OBO ID: DOID:0060375

Term Name:	orofaciodigital syndrome V		Search Ontology:
Synonyms:	OFD5 orofaciodigital syndrome Thurston type polydactyly, postaxial, with median cleft of upper lip
Definition:	An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. (2)
References:	MESH:C557819 OMIM:174300 ORDO:2919 SNOMEDCT_US_2023_03_01:722105002 UMLS_CUI:C1868118
Ontology:	Human Disease ( DOID:0060375 )

Relationships

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

OTHER orofaciodigital syndrome V PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DDX59	ddx59	Orofaciodigital syndrome V	174300

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None