Jump to:
loading...| Preferred Name |
ACHROMATOPSIA 2 |
| Synonyms |
ROD MONOCHROMACY 2 |
| ID |
http://purl.bioontology.org/ontology/OMIM/216900 |
| altLabel |
ROD MONOCHROMACY 2 ACHM2 COLORBLINDNESS, TOTAL RMCH2 ROD MONOCHROMATISM 2 |
| cui |
C1857618 |
| Gene Locus |
2q11 |
| Gene Symbol |
CNGA3 ACHM2 CNG3 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU023556 http://purl.bioontology.org/ontology/OMIM/MTHU023559 http://purl.bioontology.org/ontology/OMIM/MTHU037340 http://purl.bioontology.org/ontology/OMIM/MTHU023558 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
216900 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ACHROMATOPSIA 2 |
| Scope Statement |
Caused by mutation in the cyclic nucleotide-gated channel, alpha-3 gene (CNGA3, 600053.0001) [MOLECULAR BASIS] |
| tui |
T047 |
Create New Mapping