loading...| Preferred Name |
ACHROMATOPSIA 3 |
| Synonyms |
ACHROMATOPSIA WITH MYOPIA |
| ID |
http://purl.bioontology.org/ontology/OMIM/262300 |
| altLabel |
ACHROMATOPSIA WITH MYOPIA ROD MONOCHROMACY 1, FORMERLY ACHM3 TOTAL COLORBLINDNESS WITH MYOPIA ROD MONOCHROMATISM 1, FORMERLY RMCH1, FORMERLY PINGELAPESE BLINDNESS ACHM1, FORMERLY |
| cui |
C1849792 |
| Gene Locus |
8q21-q22 |
| Gene Symbol |
ACHM3 ACHM1 CNGB3 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU023013 http://purl.bioontology.org/ontology/OMIM/MTHU023011 http://purl.bioontology.org/ontology/OMIM/MTHU005722 http://purl.bioontology.org/ontology/OMIM/MTHU002321 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
603096 |
| notation |
262300 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ACHROMATOPSIA 3 |
| Scope Statement |
Caused by mutation in the cyclic nucleotide-gated channel, beta-3 gene (CNGB3, 605080.0001) [MOLECULAR BASIS] |
| tui |
T047 |