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