FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term orofaciodigital syndrome I ID (Ontology) DOID:0060316 (Human Disease)
Definition An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
Also Known As "orofaciodigital syndrome 1" ; "orofaciodigital syndrome type I" ; "Papillon-Leage-Psaume syndrome"
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X-linked monogenic disease
 |__X-linked dominant disease__
syndrome                       |
 |__orofaciodigital syndrome___|
                               orofaciodigital syndrome I
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Is a X-linked dominant disease
orofaciodigital syndrome
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Synonyms
  • "orofaciodigital syndrome 1" EXACT
    "orofaciodigital syndrome type I" EXACT
    "Papillon-Leage-Psaume syndrome" EXACT
Secondary IDs
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ICD10CM:Q87.0
MESH:D009958
MIM:311200
NCI:C75481
ORDO:2750
SNOMEDCT_US_2023_03_01:1779005
SNOMEDCT_US_2023_03_01:403773005
SNOMEDCT_US_2023_03_01:52868006
UMLS_CUI:C0026363
UMLS_CUI:C0029294
UMLS_CUI:C1510460