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Metadata
ID DOID:0070025
Name X-linked dyskeratosis congenita
Definition A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.
https://www.ncbi.nlm.nih.gov/pubmed/9590285
Xrefs

MIM:305000

Synonyms

DKCX [EXACT]

Zinsser-Cole-Engman syndrome [EXACT]

Parent Relationships

is_a dyskeratosis congenita

is_a X-linked recessive disease

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