| Metadata | |
|---|---|
| ID | DOID:0060452 |
| Name | posterior amorphous corneal dystrophy |
| Definition | A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. https://pubmed.ncbi.nlm.nih.gov/27096414/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
chromosome 12q21.33 deletion syndrome [EXACT] PACD [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a chromosomal deletion syndrome is_a stromal dystrophy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some deletion and has material basis in some chromosome |