oculocutaneous albinism type 2
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease |
| gptkbp:affects |
gptkb:skin
eyes hair |
| gptkbp:alternativeName |
gptkb:OCA2
brown oculocutaneous albinism |
| gptkbp:firstDescribed |
1989
|
| 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
African-American population |
| gptkbp:symptom |
nystagmus
vision problems photophobia hypopigmentation |
| gptkbp:treatment |
regular eye exams
sun protection visual aids |
| gptkbp:bfsParent |
gptkb:HERC2_gene
gptkb:OCA2_gene gptkb:OCA2 |
| gptkbp:bfsLayer |
7
|