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Pelger-Huet Anomaly

Disease ID: disease_node_5946

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DbxrefGARD:9148, MESH:D010381, MIM:169400, NCI:C85002, SNOMEDCT_US_2023_03_01:85559002, UMLS_CUI:C0030779
SubclassofDOID_0050736, DOID_74
Data SourceDOID, MESH
Mesh IdD010381
Mesh LabelPelger-Huet Anomaly
Mesh SubclassofD030342, D007960
Doid LabelPelger-Huet anomaly
Doid DescriptionA hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12. OMIM mapping confirmed by DO. [SN].
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_5946
Doid IdDOID_9631
LabelPelger-Huet Anomaly