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:
Ontology: Human Disease   (DOID:0060375)
OTHER orofaciodigital syndrome V PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DDX59 Orofaciodigital syndrome V 174300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None