FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term orofaciodigital syndrome V ID (Ontology) DOID:0060375 (Human Disease)
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.
Also Known As "OFD5" ; "orofaciodigital syndrome Thurston type" ; "polydactyly, postaxial, with median cleft of upper lip"
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__orofaciodigital syndrome_____|
                                 orofaciodigital syndrome V
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Is a autosomal recessive disease
orofaciodigital syndrome
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Synonyms
  • "OFD5" EXACT OMO:0003012
    "orofaciodigital syndrome Thurston type" EXACT
    "polydactyly, postaxial, with median cleft of upper lip" EXACT
Secondary IDs
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MESH:C557819
MIM:174300
ORDO:2919
SNOMEDCT_US_2023_03_01:722105002
UMLS_CUI:C1868118