JSON

primary immunodeficiency disease

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

Synonyms: hypoimmunity, immunodeficiency syndrome, immune deficiency disorder

Term info

database cross reference
  • ICD10CM:D84.9
  • OMIM:242850
  • NCI:C39725
  • SNOMEDCT_US_2018_03_01:64431000
  • NCI2004_11_17:C3131
  • MESH:D007153
  • UMLS_CUI:C0021051
  • CSP2005:1553-9570
  • ICD9CM:279.3
  • CSP2005:1560-5885
  • KEGG:05340
  • NCI:C3131
Subsets

DO_FlyBase_slim, NCIthesaurus

comment

Xref MGI.

has obo namespace

disease_ontology

id

DOID:612

Term relations

Subclass of: