Medical Imaging and Diagnostic Ontology

Last uploaded: April 25, 2022
Preferred Name

primary immunodeficiency disease
Synonyms

hypoimmunity

immunodeficiency syndrome

immune deficiency disorder

Definitions

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. Xref MGI.

ID

http://purl.obolibrary.org/obo/DOID_612

comment

Xref MGI.

database_cross_reference

OMIM:242850

NCI:C39725

SNOMEDCT_US_2021_09_01:191005003

KEGG:05340

ICD10CM:D84.9

ICD9CM:279.3

UMLS_CUI:C0021051

MESH:D007153

OMIM:PS300755

definition

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.

Xref MGI.

has_exact_synonym

hypoimmunity

immunodeficiency syndrome

immune deficiency disorder

has_obo_namespace

disease_ontology

IAO_0000115

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.

id

DOID:612

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

primary immunodeficiency disease

notation

DOID:612

note

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.

Xref MGI.

prefLabel

primary immunodeficiency disease

subClassOf

http://purl.obolibrary.org/obo/DOID_2914

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