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DO Term : Pelger-Huet anomaly [DOID:9631] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
UMLS_CUI:C0030779,
OMIM:169400,
GARD:9148,
169400,
MESH:D010381,
SNOMEDCT_US_2023_03_01:85559002,
NCI:C85002

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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