JSON

immunodeficiency 27A

^ http://purl.obolibrary.org/obo/MONDO_0008856

Term info

database cross reference
  • NCIT:C176806 (MONDO:equivalentTo)
  • UMLS:C4011949 (MONDO:equivalentTo)
  • Orphanet:99898 (OMIM:209950)
  • OMIM:209950 (MONDO:equivalentTo)
  • GARD:0009185 (MONDO:equivalentTo)
  • DOID:0111955 (MONDO:equivalentTo)
abbreviation
IMD27A [ MONDO:Lexical OMIM:209950 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4472

exactMatch

http://linkedlifedata.com/resource/umls/id/C4011949, http://purl.obolibrary.org/obo/NCIT_C176806, http://purl.obolibrary.org/obo/DOID_0111955, https://omim.org/entry/209950

has exact synonym

immunodeficiency 27A, mycobacteriosis, AR, immunodeficiency 27A, immunodeficiency type 27A

has related synonym

IMD27A, atypical mycobacteriosis, familial, IFNGR1 deficiency, autosomal recessive, atypical mycobacterial infection, disseminated, atypical mycobacterial infection, familial disseminated, mycobacterial disease, Mendelian susceptibility to, immunodeficiency 27A, Mycobacteriosis, autosomal recessive

id

MONDO:0008856