Metadata | |
---|---|
ID | DOID:0070096 |
Name | oculocutaneous albinism type II |
Definition | An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. https://www.ncbi.nlm.nih.gov/pubmed/18680187 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
OCA2 [EXACT] Oculocutaneous Albinism, Tyrosinase-Positive [EXACT] |
Parent Relationships |