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Autosomal Domit Dyskeratosis Congenita 2

Disease ID: disease_node_13639

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DbxrefMIM:613989
SubclassofDOID_0050736, DOID_2729
Data SourceDOID
SynonymsDKCA2
Doid Labelautosomal domit dyskeratosis congenita 2
Doid DescriptionA dyskeratosis congenita that has_material_basis_in an autosomal domit mutation of the TERT gene on chromosome 5p15.33.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_13639
Doid IdDOID_0070016
LabelAutosomal Domit Dyskeratosis Congenita 2