DKC1-related disorder

http://purl.obolibrary.org/obo/MONDO_0100152

Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene. [ PMID:12437656 PMID:14648217 PMID:19633571 PMID:10583221 MONDO:patterns/disease_series_by_gene https://clinicalgenome.org/affiliation/40006/ ]

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Term info

created by

https://orcid.org/0000-0001-5208-3432

definition

Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.

has exact synonym

DKC1-related disorder

MONDO:0100152

Term relations

Subclass of:

dyskeratosis congenita