oculocutaneous albinism type II

Term ID

DOID:0070096

Synonyms

• OCA2
• Oculocutaneous Albinism, Tyrosinase-Positive

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

References

• GARD:4038
• MESH:C537730
• OMIM:203200

Ontology

Human Disease   ( DOID:0070096 )