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primary immunodeficiency disease

Go to external page http://purl.obolibrary.org/obo/DOID_612

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. [ http://purl.obolibrary.org/obo/ECO_0007637 url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases ]

Synonyms: hypoimmunity immunodeficiency syndrome immune deficiency disorder

This is just here as a test because I lose it

Term information

database cross reference
  • MIM:PS300755
  • MESH:D007153
  • NCI:C39725
  • MIM:242850
  • KEGG:05340
  • ICD9CM:279.3
  • ICD10CM:D84.9
  • SNOMEDCT_US_2023_03_01:191005003
  • UMLS_CUI:C0021051
Subsets

DO_FlyBase_slim, NCIthesaurus

comment

Xref MGI.

has obo namespace

disease_ontology

id

DOID:612