posterior polymorphous corneal dystrophy 1

Term ID

DOID:0110855

Synonyms

• CHED1
• Corneal Endothelial Dystrophy 1, Autosomal Dominant
• Maumenee Corneal Dystrophy
• PPCD1

Definition

A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. https://www.ncbi.nlm.nih.gov/pubmed/26749309

References

• ICD10CM:H18.50
• MIM:122000

Ontology

Human Disease   ( DOID:0110855 )