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loading...| Preferred Name |
CONE-ROD DYSTROPHY 3 |
|
| Synonyms |
CORD3 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/604116 |
|
| altLabel |
CORD3 |
|
| cui |
C1858806 |
|
| Gene Locus |
1p22.1 |
|
| Gene Symbol |
ARMD2 ABCA4 RP19 STGD1 ABCR CORD3 FFM |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU048835 http://purl.bioontology.org/ontology/OMIM/MTHU042237 http://purl.bioontology.org/ontology/OMIM/MTHU065454 http://purl.bioontology.org/ontology/OMIM/MTHU040797 http://purl.bioontology.org/ontology/OMIM/MTHU074830 http://purl.bioontology.org/ontology/OMIM/MTHU074829 http://purl.bioontology.org/ontology/OMIM/MTHU074831 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
604116 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CONE-ROD DYSTROPHY 3 |
|
| Scope Statement |
Onset of disease 2-27 years (median age, 9 years) [MISCELLANEOUS] Caused by mutation in the ATP-binding transporter, retina-specific gene (ABCA4, 601691.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |
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