Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070095 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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