OBO ID: DOID:0060316
Term Name: orofaciodigital syndrome I Search Ontology:
Synonyms:
  • orofaciodigital syndrome 1
  • orofaciodigital syndrome type I
  • Papillon-Leage-Psaume syndrome
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. (2)
References:
  • ICD10CM:Q87.0
  • MESH:D009958
  • NCI:C75481
  • OMIM:311200
  • 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
Ontology: Human Disease   ( DOID:0060316 )
Relationships
is a type of:
OTHER orofaciodigital syndrome I PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OFD1 Orofaciodigital syndrome I 311200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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