Jump to:
loading...| Preferred Name |
RETINITIS PIGMENTOSA 18 |
| Synonyms |
RP18 |
| ID |
http://purl.bioontology.org/ontology/OMIM/601414 |
| altLabel |
RP18 |
| cui |
C1832378 |
| Gene Locus |
1q21.2 |
| Gene Symbol |
RP18 HPRP3 PRPF3 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU065587 http://purl.bioontology.org/ontology/OMIM/MTHU065585 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
601414 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
RETINITIS PIGMENTOSA 18 |
| Scope Statement |
Caused by mutation in the pre-mRNA processing factor 3 gene (607301.0001) [MOLECULAR BASIS] |
| tui |
T047 |
Create New Mapping