oculocutaneous albinism type 4
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease |
| gptkbp:affects |
melanin biosynthesis
|
| gptkbp:firstDescribed |
2001
|
| https://www.w3.org/2000/01/rdf-schema#label |
oculocutaneous albinism type 4
|
| gptkbp:ICD-10_code |
gptkb:E70.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
SLC45A2 gene
|
| gptkbp:OMIM |
606574
|
| gptkbp:prevalence |
most common in East Asian populations
|
| gptkbp:symptom |
visual impairment
hypopigmentation of eyes hypopigmentation of hair hypopigmentation of skin |
| gptkbp:synonym |
OCA4
SLC45A2-related albinism |
| gptkbp:bfsParent |
gptkb:SLC45A2
|
| gptkbp:bfsLayer |
7
|