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oculocutaneous albinism type IB
Summary
- Synonym
-
- Albinism, Yellow Mutant Type
- OCA1B
- Definition
- An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.
- Super Class
- digenic disease oculocutaneous albinism
External Links
- Disease Ontology
- DOID:0070095
- Mondo Disease Ontology
- MeSH
- OMIM
