Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
retina
|
| gptkbp:associated_with |
night blindness
|
| gptkbp:caused_by |
mutation in the CHM gene
|
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:first_described_by |
1869
|
| https://www.w3.org/2000/01/rdf-schema#label |
Choroideremia
|
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptoms |
progressive vision loss
|
| gptkbp:treatment |
no cure
|
| gptkbp:bfsParent |
gptkb:EJ_Scott
|
| gptkbp:bfsLayer |
7
|