DKC1-related disorder

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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. [ http://www.ncbi.nlm.nih.gov/pubmed/14648217 http://www.ncbi.nlm.nih.gov/pubmed/19633571 http://www.ncbi.nlm.nih.gov/pubmed/10583221 http://www.ncbi.nlm.nih.gov/pubmed/12437656 https://clinicalgenome.org/affiliation/40006/ MONDO:patterns/disease_series_by_gene ]

Synonyms: DKC1-related disorder

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Preferred root terms

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This is just here as a test because I lose it

Term information

Subsets

rare, inferred_rare, clingen

creator

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

id

MONDO:0100152

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0100152

Term relations

Subclass of:

dyskeratosis congenita