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

Echinobase 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

MIM:

MIM:311200 - orofaciodigital syndrome i; ofd1

MIM:311200 - orofaciodigital syndrome i; ofd1

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), X-linked dominant disease (is_a)