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disorder of copper metabolism

Go to external page 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 ]

Synonyms: inborn error of cellular copper ion homeostasis rare inborn error of cellular copper ion homeostasis inborn cellular copper ion homeostasis disorder

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:275.1 (MONDO:i2s)
  • UMLS:C0012714 (Orphanet:309839/e)
  • Orphanet:309839 (MONDO:equivalentTo)
  • GARD:21354 (Orphanet:309839)
  • MedDRA:10061091 (Orphanet:309839/e)
  • SCTID:79886009 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10061091

exactMatch

http://www.orpha.net/ORDO/Orphanet_309839

http://identifiers.org/snomedct/79886009

http://linkedlifedata.com/resource/umls/id/C0012714

has related synonym

copper Transport disorders

id

MONDO:0017762

Term relations