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loading...| Preferred Name |
Achromatopsia 2 |
| Synonyms |
ACHM2 |
| ID |
http://purl.bioontology.org/ontology/MESH/C536128 |
| altLabel |
ACHM2 Rod monochromatism 2 RMCH2 Colorblindness, Total Total color blindness Rod monochromacy 2 |
| cui |
C1857618 |
| HM |
D003117 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100625 |
| MeSH Frequency |
21 |
| MMR |
20160929 |
| notation |
C536128 |
| prefLabel |
Achromatopsia 2 |
| SC |
3 |
| Scope Statement |
A rare hereditary form of colorblindness characterized by PHOTOPHOBIA; NYSTAGMUS; reduced visual acuity, and a complete inability to discriminate between colors. It is caused by mutations in the CNGA3 gene. OMIM: 216900 |
| TERMUI |
T738329 T738330 T738326 T807185 T738331 T738328 T738327 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
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