FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Pelger-Huet anomaly ID (Ontology) DOID:9631 (Human Disease)
Definition A 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.
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 Genes
 Pelger-Huet anomaly       1
 for disease ribbon | Pelger-Huet anomaly       1
 model of | Pelger-Huet anomaly       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease____
disease of anatomical entity      |
 |__hematopoietic system disease__|
                                  Pelger-Huet anomaly  1 rec.
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Is a autosomal dominant disease
hematopoietic system disease
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Synonyms
Secondary IDs
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GARD:9148
MESH:D010381
MIM:169400
NCI:C85002
SNOMEDCT_US_2023_03_01:85559002
UMLS_CUI:C0030779