GenTIGSA Gene Database on Rare Genetic Disorders
Tyrosinase-positive Oculocutaneous Albinism  
Disease Aliases (18)

Albinism ii

Albinism, brown oculocutaneous

Albinism 2

Albinism, oculocutaneous, type ii

Albinism, oculocutaneous, type 2

Albinoidism

Boca

Brown oculocutaneous albinism

Oca2

Oca2 - tyrosinase-positive oculocutaneous albinism

Oculocutaneous albinism, type ii

Oculocutaneous albinism, tyrosinase-positive

Oculocutaneous albinism type 2

Oculocutaneous albinism tyrosinase positive

Tyrosinase-positive oculocutaneous albinism

Albinism, oculocutaneous, type ii; oca2

Oculocutaneous albinism type ii

Oculocutaneous albinism, type 2

Associated Genes (2)
 

NCBI-RefSeq:  MC1R   (Melanocortin 1 receptor)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  OCA2   (OCA2 melanosomal transmembrane protein)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Tyrosinase-positive oculocutaneous albinism OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations