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Severe Congenital Neutropenia 1

Disease ID: disease_node_18057

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DbxrefMIM:202700
SubclassofDOID_0050736, DOID_0050590
Data SourceDOID
Doid Labelsevere congenital neutropenia 1
Doid DescriptionA severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_18057
Doid IdDOID_0080625
Disease Has Basis InHP_0001197
LabelSevere Congenital Neutropenia 1