Human Disease Ontology

Last uploaded: November 1, 2024
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

ICD9CM:279.3

MIM:PS300755

ICD10CM:D84.9

MESH:D007153

SNOMEDCT_US_2023_03_01:191005003

UMLS_CUI:C0021051

KEGG:05340

MIM:242850

NCI:C39725

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.

has exact synonym

hypoimmunity

immunodeficiency syndrome

immune deficiency disorder

has_obo_namespace

disease_ontology

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

prefLabel

primary immunodeficiency disease

subClassOf

http://purl.obolibrary.org/obo/DOID_4

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

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