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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

ICD10CM:H18.5

MESH:C567546

OMIM:612868

ORDO:98971

Subsets

DO_rare_slim

Synonyms

chromosome 12q21.33 deletion syndrome [EXACT]

PACD [EXACT]

Parent Relationships

is_a stromal dystrophy

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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