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granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0009310

Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 chronic granulomatous disease caused by mutation in NCF2 chronic granulomatous disease 2, autosomal recessive NCF2 chronic granulomatous disease

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:2201282 (https://orcid.org/0000-0003-0011-764X)
  • OMIM:233710 (MONDO:equivalentTo)
  • MESH:C565531 (MONDO:equivalentTo)
  • MEDGEN:383869 (MONDO:equivalentTo)
  • GARD:15177 (MONDO:GARD)
  • DOID:0070191 (MONDO:equivalentTo)
  • UMLS:C1856245 (MONDO:equivalentTo)
Subsets

gard_rare, rare, nord_rare

IAO 0000233

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

exactMatch

https://omim.org/entry/233710

http://purl.obolibrary.org/obo/DOID_0070191

http://identifiers.org/medgen/383869

http://identifiers.org/mesh/C565531

http://linkedlifedata.com/resource/umls/id/C1856245

has related synonym

granulomatous disease, chronic, due to Ncf2 deficiency

neutrophil cytosol Factor 2, deficiency of

Ncf2, deficiency of

CDG2

granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II

CGD, autosomal recessive cytochrome B-positive, type 2

P67-PHOX, deficiency of

id

MONDO:0009310