Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070094 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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