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

• MESH:C557819
• OMIM:174300
• ORDO:2919
• SNOMEDCT_US_2023_03_01:722105002
• UMLS_CUI:C1868118

Ontology

Human Disease   ( DOID:0060375 )