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eosinophil peroxidase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0043364


A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. [ OMIM:261500 ]

Term info

database cross reference
  • SCTID:711160007 (MONDO:equivalentTo)
  • GARD:0012361 (MONDO:equivalentTo)
  • OMIM:261500 (MONDO:equivalentTo)
  • UMLS:C1850000 (OMIM:261500)
  • MESH:C564893 (MONDO:equivalentTo)
Subsets

gard_rare

abbreviation
EPXD [ OMIM:261500 GARD:0012361 ]

IAO 0000233

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

definition

A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1850000, https://omim.org/entry/261500, http://identifiers.org/mesh/C564893, http://identifiers.org/snomedct/711160007

has exact synonym

eosinophil peroxidase deficiency

has related synonym

eosinophil peroxidase deficiency, partial, EPXD, presentey anomaly, peroxidase and phospholipid deficiency in eosinophils, Presentey anomaly, eosinophil peroxidase deficiency, Partial

id

MONDO:0043364

Term relations