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achromatopsia
Summary
- Synonym
-
- ACHM
- Monochromatism
- Definition
- A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
- Super Class
- color blindness
External Links
- Disease Ontology
- DOID:13911
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 50 | ACO2 | aconitase 2 | |
| 412 | STS | steroid sulfatase | |
| 762 | CA4 | carbonic anhydrase 4 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 6391 | SDHC | succinate dehydrogenase complex subunit C | |
| 6785 | ELOVL4 | ELOVL fatty acid elongase 4 | |
| 8930 | MBD4 | methyl-CpG binding domain 4, DNA glycosylase | |
| 9394 | HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | |
| 60506 | NYX | nyctalopin |
Related Glycoprotein
