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Metadata
ID DOID:0070014
Name autosomal dominant dyskeratosis congenita 1
Definition A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.
https://www.ncbi.nlm.nih.gov/pubmed/11574891
Xrefs

OMIM:127550

Synonyms

DKCA1 [EXACT]

Dyskeratosis Congenita, Scoggins Type [EXACT]

Parent Relationships

is_a dyskeratosis congenita

is_a autosomal dominant disease

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