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DO Term : primary immunodeficiency disease [DOID:612] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.

synonyms:
immunodeficiency syndrome,
UMLS_CUI:C0021051,
ICD10CM:D84.9,
ICD9CM:279.3,
OMIM:PS300755,
SNOMEDCT_US_2023_03_01:191005003,
242850,
PS300755,
KEGG:05340,
hypoimmunity,
OMIM:242850,
MESH:D007153,
immune deficiency disorder,
NCI:C39725

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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