loading...| Preferred Name |
RETINITIS PIGMENTOSA 19 |
|
| Synonyms |
RP19 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/601718 |
|
| altLabel |
RP19 |
|
| cui |
C1866422 |
|
| Gene Locus |
1p22.1 |
|
| Gene Symbol |
ARMD2 ABCA4 RP19 STGD1 ABCR CORD3 FFM |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU057168 http://purl.bioontology.org/ontology/OMIM/MTHU057167 http://purl.bioontology.org/ontology/OMIM/MTHU034743 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU057165 http://purl.bioontology.org/ontology/OMIM/MTHU030431 http://purl.bioontology.org/ontology/OMIM/MTHU057169 http://purl.bioontology.org/ontology/OMIM/MTHU057166 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
601718 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
RETINITIS PIGMENTOSA 19 |
|
| Scope Statement |
Onset of symptoms in the first decade of life [MISCELLANEOUS] Progression of symptoms with age [MISCELLANEOUS] Caused by mutation in the ATP-binding cassette, subfamily A, member 4 gene (ABCA4, 601691.0008) [MOLECULAR BASIS] |
|
| tui |
T047 |