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Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain (MONDO:0009842)

An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.

Overview

Category

Ontology ID

Internal:11045

Synonyms

Pelger-Huet-like anomaly and episodic fever with abdominal pain

immunodeficiency 108 with autoinflammation

Mapped terms

DOID:0061077

GARD:0024698

MEDGEN:376692

MESH:C564899

OMIM:260570

UMLS:C1850054

Child terms

Unknown children.