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loading...| Preferred Name |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A |
| Synonyms |
NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA |
| ID |
http://purl.bioontology.org/ontology/OMIM/310500 |
| altLabel |
NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA CSNB, COMPLETE, X-LINKED NBM1 MYOPIA-NIGHT BLINDNESS HEMERALOPIA-MYOPIA CSNB1A NYCTALOPIA |
| cui |
C3495587 C0028077 |
| Gene Locus |
Xp11.4 |
| Gene Symbol |
NBM1 CSNB1A NYX |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002187 http://purl.bioontology.org/ontology/OMIM/MTHU038321 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
310500 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A |
| Scope Statement |
Caused by mutation in the nyctalopin gene (NYX, 300278.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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