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Metadata
ID DOID:0110255
Name cataract 5 multiple types
Definition A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.
https://www.ncbi.nlm.nih.gov/pubmed/12089525
Xrefs

ICD10CM:Q12.0

OMIM:116800

Synonyms

CTRCT5 [EXACT]

Parent Relationships

is_a cataract

is_a autosomal dominant disease

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