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Autosomal Recessive Dyskeratosis Congenita 1

Disease ID: disease_node_13640

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DbxrefMIM:224230
SubclassofDOID_2729, DOID_0050737
Data SourceDOID
SynonymsDKCB1
Doid Labelautosomal recessive dyskeratosis congenita 1
Doid DescriptionA dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_13640
Doid IdDOID_0070015
LabelAutosomal Recessive Dyskeratosis Congenita 1