oculocutaneous albinism type IA

Term ID

DOID:0070094

Synonyms

• OCA1A
• Oculocutaneous Albinism, Tyrosinase-Negative

Definition

An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. https://www.ncbi.nlm.nih.gov/pubmed/8477259

References

• OMIM:203100

Ontology

Human Disease   ( DOID:0070094 )