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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

In OMIM:
OMIM:311200 - OROFACIODIGITAL SYNDROME I; OFD1

In Mondo Disease Ontology:
MONDO:0010702 - orofaciodigital syndrome I

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ofd1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): orofaciodigital syndrome (is_a)