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oculocutaneous albinism type IA
Summary
- Synonym
-
- 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.
- Super Class
- oculocutaneous albinism
External Links
- Disease Ontology
- DOID:0070094
- Mondo Disease Ontology
- OMIM
