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DO Term : Omenn syndrome [DOID:0060010] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.
  • synonyms:
  • GARD:8198,
  • OMIM:603554,
  • 603554,
  • combined immunodeficiency with hypereosinophilia,
  • ICD10CM:D81.8
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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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