orofaciodigital syndrome I

Term ID

DOID:0060316

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 )