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Metadata
ID DOID:0110231
Name cataract 1 multiple types
Definition A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.
https://www.ncbi.nlm.nih.gov/pubmed/9497259
Xrefs

ICD10CM:Q12.0

OMIM:116200

Synonyms

CAE1 [NARROW]

cataract 1, multiple types, with or without microcornea [EXACT]

CTRCT1 [EXACT]

CZP1 [NARROW]

Duffy linked cataract [EXACT]

zonular pulverulent cataract 1 [NARROW]

Parent Relationships

is_a cataract

is_a autosomal dominant disease

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