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Metadata
ID DOID:0070016
Name autosomal dominant dyskeratosis congenita 2
Definition A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33.
https://www.ncbi.nlm.nih.gov/pubmed/16247010
Xrefs

OMIM:613989

Synonyms

DKCA2 [EXACT]

Parent Relationships

is_a dyskeratosis congenita

is_a autosomal dominant disease

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