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cataract 47
Summary
- Synonym
-
- CTRCT47
- Definition
- A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea.
- Super Class
- autosomal dominant disease cataract
External Links
- Disease Ontology
- DOID:0070353
- Mondo Disease Ontology
- OMIM
