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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital stationary night blindness 1A
Summary
- Synonym
-
- CSNB1A
- NBMI
- complete CSNB X-linked
- congenital stationary night blindness 1A X-linked
- congenital stationary night blindness with myopia
- hemeralopia-myopia
- myopia-night blindness
- Definition
- A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4.
- Super Class
- X-linked recessive disease congenital stationary night blindness
External Links
- Disease Ontology
- DOID:0110870
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011463 | Childhood onset |
| HP:0001419 | X-linked recessive inheritance |
| HP:0012047 | Hemeralopia |
| HP:0011003 | High myopia |
