Details of Disease

General Information of Disease (ID: DISOFZK2)

Disease Name Oculocutaneous albinism type 8
Synonyms oculocutaneous albinism, type 8; OCA8; oculocutaneous albinism, type VIII
Disease Hierarchy
DISJS7CU: Oculocutaneous albinism
DISOFZK2: Oculocutaneous albinism type 8
Disease Identifiers
MONDO ID
MONDO_0030899
UMLS CUI
C5436929
OMIM ID
619165
MedGen ID
1754121
Orphanet ID
597733

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DCT OTYVNTBG Strong Autosomal recessive [1]
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References

1 Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet Med. 2021 Mar;23(3):479-487. doi: 10.1038/s41436-020-00997-8. Epub 2020 Oct 26.