loading...| Preferred Name | disorder of copper metabolism | |
| Synonyms |
copper Transport disorders inborn error of cellular copper ion homeostasis rare inborn error of cellular copper ion homeostasis inborn cellular copper ion homeostasis disorder |
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| Definitions |
An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0017762 |
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| database_cross_reference |
ICD9:275.1 Orphanet:309839 UMLS:C0012714 MedDRA:10061091 MEDGEN:507647 icd11.foundation:1926278296 GARD:21354 SCTID:79886009 |
|
| definition |
An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. |
|
| has_exact_synonym |
inborn error of cellular copper ion homeostasis rare inborn error of cellular copper ion homeostasis inborn cellular copper ion homeostasis disorder |
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| has_related_synonym |
copper Transport disorders |
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| id |
MONDO:0017762 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
disorder of copper metabolism |
|
| notation |
MONDO:0017762 |
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| prefLabel |
disorder of copper metabolism |
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/79886009 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1926278296 http://identifiers.org/medgen/507647 |
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| terms_conformsTo |
http://purl.obolibrary.org/obo/inborn_metabolic.yaml http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml |
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| treeView | ||
| subClassOf |