Metadata | |
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ID | DOID:9631 |
Name | Pelger-Huet anomaly |
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. https://www.ncbi.nlm.nih.gov/pubmed/12118250 |
Xrefs |
SNOMEDCT_US_2023_03_01:85559002 |
Subsets |
DO_rare_slim NCIthesaurus |
Parent Relationships |