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
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