COVID-19 Ontology

Last uploaded: February 25, 2021
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.

alternative_term

hypoimmunity

immunodeficiency syndrome

immune deficiency disorder

database_cross_reference

ICD9CM:279.3

SNOMEDCT_US_2019_09_01:234532001

ICD10CM:D84.9

MESH:D007153

OMIM:242850

UMLS_CUI:C0021051

KEGG:05340

NCI:C3131

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_obo_namespace

disease_ontology

id

DOID:612

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim

label

primary immunodeficiency disease

notation

DOID:612

preferred label

primary immunodeficiency disease

prefLabel

primary immunodeficiency disease

textual 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.

subClassOf

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

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