posterior polymorphous corneal dystrophy 1

Summary

DOID:0110855 - posterior polymorphous corneal dystrophy 1

Disease Ontology Definition:A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.

Synonyms: Ched1, CHED1, Corneal Endothelial Dystrophy 1, Autosomal Dominant, Maumenee Corneal Dystrophy, Ppcd1, PPCD1

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

: vsx1, ovol2, col8a2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007378 - posterior polymorphous corneal dystrophy 1

MONDO:0007378 - posterior polymorphous corneal dystrophy 1

MIM:

MIM:122000 - CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1

MIM:122000 - CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1

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

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

Parent(s): autosomal dominant disease (is_a), posterior polymorphous corneal dystrophy (is_a)