oculocutaneous albinism type IV

Term ID

DOID:0070098

Synonyms

• OCA4

Definition

An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. https://www.ncbi.nlm.nih.gov/pubmed/14722913

References

• OMIM:606574

Ontology

Human Disease   ( DOID:0070098 )