oculocutaneous albinism type IB

Term ID

DOID:0070095

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/18925668

References

• MESH:C537729
• OMIM:606952

Ontology

Human Disease   ( DOID:0070095 )