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cataract 13 with adult i phenotype
Summary
- Synonym
-
- CTRCT13
- Definition
- A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
- Super Class
- autosomal recessive disease cataract
External Links
- Disease Ontology
- DOID:0110242
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8N0V5 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000519 | Developmental cataract |
