OBO ID: DOID:0070094
Term Name: oculocutaneous albinism type IA Search Ontology:
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 oculocutaneous albinism type IA PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TYR Albinism, oculocutaneous, type IA 203100
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None