JSON

disorder of copper metabolism

^ http://purl.obolibrary.org/obo/MONDO_0017762

An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. [ MONDO:patterns/inborn_metabolic ]

Term info

database cross reference
  • UMLS:CN043585 (MONDO:equivalentTo)
  • UMLS:C0012714 (Orphanet:309839/e)
  • SCTID:79886009 (MONDO:equivalentTo)
  • MedDRA:10061091 (Orphanet:309839/e)
  • Orphanet:309839 (MONDO:equivalentTo)
  • ICD9:275.1 (MONDO:i2s)
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10061091

definition

An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_309839, http://linkedlifedata.com/resource/umls/id/CN043585, http://identifiers.org/snomedct/79886009, http://linkedlifedata.com/resource/umls/id/C0012714

has exact synonym

inborn error of cellular copper ion homeostasis, rare inborn error of cellular copper ion homeostasis, inborn cellular copper ion homeostasis disorder

has related synonym

copper Transport disorders

id

MONDO:0017762

Term relations