Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

primary immunodeficiency disease

Synonyms

immune deficiency disorder

Definitions

Xref MGI. 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

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

comment

Xref MGI.

database_cross_reference

OMIM:242850

ICD9CM:279.3

KEGG:05340

SNOMEDCT_US_2022_09_01:191005003

NCI:C39725

UMLS_CUI:C0021051

ICD10CM:D84.9

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.

has exact synonym

immune deficiency disorder

hypoimmunity

immunodeficiency syndrome

has_obo_namespace

disease_ontology

id

DOID:612

in_subset

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

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

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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