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loading...| Preferred Name |
RETINITIS PIGMENTOSA 13 |
| Synonyms |
RP13 |
| ID |
http://purl.bioontology.org/ontology/OMIM/600059 |
| altLabel |
RP13 |
| cui |
C1838702 |
| Gene Locus |
17p13.3 |
| Gene Symbol |
RP13 PRPF8 PRPC8 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU007829 http://purl.bioontology.org/ontology/OMIM/MTHU026372 http://purl.bioontology.org/ontology/OMIM/MTHU068212 http://purl.bioontology.org/ontology/OMIM/MTHU049440 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU049441 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
600059 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
RETINITIS PIGMENTOSA 13 |
| Scope Statement |
Incomplete penetrance [MISCELLANEOUS] Onset of night blindness varies among patients from early childhood to mid thirties [MISCELLANEOUS] Caused by mutation in the pre-mRNA processing factor 8 gene (PRPF8, 607300.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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