oculocutaneous albinism type 2 (OCA2) in humans
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disorder |
| gptkbp:affects |
melanin production
|
| gptkbp:alsoKnownAs |
gptkb:OCA2
brown oculocutaneous albinism |
| gptkbp:associatedWith |
increased risk of skin cancer
|
| gptkbp:characterizedBy |
visual impairment
hypopigmentation of eyes hypopigmentation of hair hypopigmentation of skin |
| gptkbp:diagnosedBy |
genetic testing
clinical examination |
| gptkbp:firstDescribed |
1989
|
| https://www.w3.org/2000/01/rdf-schema#label |
oculocutaneous albinism type 2 (OCA2) in humans
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_15q12-q13
|
| gptkbp:mutationAssociatedWith |
gptkb:OCA2_gene
|
| gptkbp:OMIM |
203200
|
| gptkbp:prevalence |
gptkb:sub-Saharan_Africa
African-American populations |
| gptkbp:symptom |
nystagmus
strabismus photophobia reduced visual acuity |
| gptkbp:treatment |
sun protection
visual aids regular skin checks |
| gptkbp:bfsParent |
gptkb:pink-eyed_dilution_gene
|
| gptkbp:bfsLayer |
8
|