Term Name:	orofaciodigital syndrome I
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.
Ontology:	Human Disease [DOID:0060316]   ( DOID:0060316 )