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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,

Xenbase Genes : ofd1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010702 - orofaciodigital syndrome I


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): orofaciodigital syndrome (is_a)