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Metadata
ID DOID:0110266
Name cataract 9 multiple types
Definition A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.
https://www.ncbi.nlm.nih.gov/pubmed/26867756, https://www.omim.org/entry/604219
Xrefs

ICD10CM:Q12.0

MIM:604219

Synonyms

autosomal recessive congenital cataract 1 [NARROW]

cataract 9 multiple types with or without microcornea [EXACT]

CATC1 [NARROW]

CTRCT9 [EXACT]

Parent Relationships

is_a cataract

is_a autosomal recessive disease

is_a autosomal dominant disease

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