Skip Header

Keyword Dyskeratosis congenita

UniProtKB (6) rdf/xml obo
DefinitionProtein which, if defective, causes dyskeratosis congenita, a clinically and genetically heterogeneous disorder characterized by abnormal skin pigmentation, mucosal leukoplakia, nail dystrophy, progressive bone marrow failure, and increased predisposition to cancer.
Synonyms DKC
CategoryDisease
GraphicalDiseaseDyskeratosis congenita