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cataract 34 multiple types
Summary
- Synonym
-
- CATC3
- CTRCT34
- autosomal recessive congenital cataract 3
- cataract 34 multiple types with or without microcornea
- Definition
- A cataract that has_material_basis_in variation in the region 1p34.3-p32.2.
- Super Class
- cataract
External Links
- Disease Ontology
- DOID:0110230
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
| 2262 | GPC5 | glypican 5 | |
| 2584 | GALK1 | galactokinase 1 | |
| 2651 | GCNT2 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | |
| 4047 | LSS | lanosterol synthase | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6652 | SORD | sorbitol dehydrogenase | |
| 9197 | SLC33A1 | solute carrier family 33 member 1 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000659 | Peters anomaly |
| HP:0011493 | Central opacification of the cornea |
| HP:0000523 | Subcapsular cataract |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0000486 | Strabismus |
| HP:0001087 | Developmental glaucoma |
| HP:0011483 | Anterior synechiae of the anterior chamber |
| HP:0000639 | Nystagmus |
