Oculocutaneous albinism type 1
GPTKB entity
Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Oculocutaneous_albinism
|
| gptkbp:associated_with |
increased risk of skin cancer
|
| gptkbp:caused_by |
mutation in the TYR gene
|
| gptkbp:characterized_by |
lack of melanin in skin, hair, and eyes
|
| gptkbp:diagnosis |
genetic testing
|
| https://www.w3.org/2000/01/rdf-schema#label |
Oculocutaneous albinism type 1
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:symptoms |
vision problems
light sensitivity |
| gptkbp:treatment |
vision correction
protective measures against sun exposure |
| gptkbp:bfsParent |
gptkb:TYR
|
| gptkbp:bfsLayer |
6
|