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cataract 38
Summary
- Synonym
-
- CATC5
- CTRCT38
- autosomal recessive congenital cataract 5
- Definition
- A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34.
- Super Class
- autosomal recessive disease cataract
External Links
- Disease Ontology
- DOID:0110245
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000519 | Developmental cataract |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003577 | Congenital onset |
