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Metadata
ID DOID:0070353
Name cataract 47
Definition A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea.
https://www.omim.org/entry/612018
Xrefs

MIM:612018

Synonyms

CTRCT47 [EXACT]

Parent Relationships

is_a cataract

is_a autosomal dominant disease

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