Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

disorder of copper metabolism

Synonyms

inborn error of cellular copper ion homeostasis

rare inborn error of cellular copper ion homeostasis

inborn cellular copper ion homeostasis disorder

copper Transport disorders

Definitions

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

ID

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

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml

database_cross_reference

UMLS:CN043585

ICD9:275.1

Orphanet:309839

COHD:436672

UMLS:C0012714

ICD10:E83.0

MedDRA:10061091

SCTID:79886009

disease has basis in disruption of

http://purl.obolibrary.org/obo/GO_0006878

exactMatch

http://identifiers.org/meddra/10061091

http://identifiers.org/snomedct/79886009

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

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

http://linkedlifedata.com/resource/umls/id/CN043585

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

imported from

http://purl.obolibrary.org/obo/mondo.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders

label

disorder of copper metabolism

notation

MONDO:0017762

prefLabel

disorder of copper metabolism

textual definition

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0017761

http://purl.obolibrary.org/obo/MONDO_0019052

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