Pelger-Huet Anomaly

"Pelger-Huet Anomaly" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

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Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Descriptor ID	D010381
MeSH Number(s)	C15.378.553.696 C16.320.784
Concept/Terms	Pelger-Huet Anomaly Pelger-Huet Anomaly Anomaly, Pelger-Huet Pelger Huet Anomaly Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities Pelger-Huët Anomaly Anomaly, Pelger-Huët Pelger Huët Anomaly Pelger-Huët Nuclear Anomaly Anomaly, Pelger-Huët Nuclear Nuclear Anomaly, Pelger-Huët Pelger Huët Nuclear Anomaly Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities Pelger-Huet Nuclear Anomaly Anomaly, Pelger-Huet Nuclear Nuclear Anomaly, Pelger-Huet Pelger Huet Nuclear Anomaly Pseudo Pelger-Huet Anomaly Pseudo Pelger-Huet Anomaly Anomaly, Pseudo Pelger-Huet Pelger-Huet Anomaly, Pseudo Pseudo Pelger Huet Anomaly Pseudo Pelger-Huët Anomaly Anomaly, Pseudo Pelger-Huët Pelger-Huët Anomaly, Pseudo Pseudo Pelger Huët Anomaly Pseudo Pelger-Huet Nuclear Anomaly Pseudo Pelger Huet Nuclear Anomaly

Below are MeSH descriptors whose meaning is more general than "Pelger-Huet Anomaly".

Diseases [C]
Hemic and Lymphatic Diseases [C15]
Hematologic Diseases [C15.378]
Leukocyte Disorders [C15.378.553]
Pelger-Huet Anomaly [C15.378.553.696]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Pelger-Huet Anomaly [C16.320.784]

Below are MeSH descriptors whose meaning is related to "Pelger-Huet Anomaly".

Below are MeSH descriptors whose meaning is more specific than "Pelger-Huet Anomaly".

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