loading...| Preferred Name |
BLUE CONE MONOCHROMACY |
| Synonyms |
BCM |
| ID |
http://purl.bioontology.org/ontology/OMIM/303700 |
| altLabel |
BCM CONE DYSTROPHY 5, X-LINKED COD5 CBBM BLUE CONE MONOCHROMATISM COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE |
| cui |
C0339537 C3887937 |
| Gene Locus |
Xq28 |
| Gene Symbol |
CBBM OPN1LW CBP RCP |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU032924 http://purl.bioontology.org/ontology/OMIM/MTHU003224 http://purl.bioontology.org/ontology/OMIM/MTHU032925 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
303700 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
BLUE CONE MONOCHROMACY |
| Scope Statement |
Caused by mutation in both the opsin 1, long-wave-sensitive (red cone pigment) gene (OPN1LW, 300822.0001) and opsin 1, medium-wave-sensitive (green cone pigment) gene (OPN1MW, 300821.0002) [MOLECULAR BASIS] Progressive disease is seen in some patients [MISCELLANEOUS] Caused by mutation in the controller of the OPN1LW and OPN1MW genes (300824) [MOLECULAR BASIS] |
| tui |
T019 T047 |