Oculocutaneous albinism type 2
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease |
| gptkbp:affects |
melanin production
|
| gptkbp:alternativeName |
gptkb:tyrosinase-positive_albinism
gptkb:OCA2 |
| gptkbp:firstDescribed |
1994
|
| gptkbp:hasOrphanetID |
55
|
| https://www.w3.org/2000/01/rdf-schema#label |
Oculocutaneous albinism type 2
|
| gptkbp:ICD-10_code |
gptkb:E70.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:OCA2_gene
|
| gptkbp:OMIM |
203200
|
| gptkbp:prevalence |
gptkb:Sub-Saharan_Africa
|
| gptkbp:riskFactor |
increased risk of skin cancer
|
| gptkbp:symptom |
visual impairment
hypopigmentation of eyes hypopigmentation of hair hypopigmentation of skin |
| gptkbp:treatment |
sun protection
visual aids |
| gptkbp:bfsParent |
gptkb:chromosome_15
|
| gptkbp:bfsLayer |
6
|