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loading...| Preferred Name |
RETINITIS PIGMENTOSA 41 |
| Synonyms |
RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, PROMININ-RELATED |
| ID |
http://purl.bioontology.org/ontology/OMIM/612095 |
| altLabel |
RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, PROMININ-RELATED RP41 |
| cui |
C2677516 |
| Gene Locus |
4p15.3 |
| Gene Symbol |
MCDR2 RP41 PROML1 PROM1 AC133 STGD4 CORD12 CD133 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU021475 http://purl.bioontology.org/ontology/OMIM/MTHU003281 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
612095 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
RETINITIS PIGMENTOSA 41 |
| Scope Statement |
Caused by mutation in the prominin-1 gene (PROM1, 604365.0013) [MOLECULAR BASIS] |
| tui |
T047 |
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