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Human Disease

orofaciodigital syndrome V

Term ID
DOID:0060375
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 )
Relationships
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Genes Involved
Zebrafish Models