| Metadata | |
|---|---|
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |