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X-Linked Dyskeratosis Congenita

Disease ID: disease_node_13630

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DbxrefMIM:305000
SubclassofDOID_0080012, DOID_2729
Data SourceDOID
SynonymsDKCX, Zinsser-Cole-Engman syndrome
Doid LabelX-linked dyskeratosis congenita
Doid DescriptionA dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.
Has Material Basis InGENO_0000149
Disease Node Iddisease_node_13630
Doid IdDOID_0070025
LabelX-Linked Dyskeratosis Congenita