Summary Literature (0)

DOID:0060316 - orofaciodigital syndrome I

Disease Ontology 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.

Synonyms: Papillon-Leage-Psaume syndrome, orofaciodigital syndrome 1, orofaciodigital syndrome type I,

Echinobase Genes : ofd1


OMIM:

MIM:311200 - orofaciodigital syndrome i; ofd1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee