orofaciodigital syndrome I

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ofd1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010702 - orofaciodigital syndrome I

MONDO:0010702 - orofaciodigital syndrome I

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

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

Parent(s): orofaciodigital syndrome (is_a)