Dyskeratosis congenita
cv_term_accession
KW-1011
canonical
uniprot_keyword
KW-1011
canonical
name
Dyskeratosis congenita
uniprot
synonym
DKC
uniprot
definition
Protein 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.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords