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loading...| Preferred Name | Copper_Metabolism_Disorder | |
| Synonyms |
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|
| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Copper_Metabolism_Disorder |
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| ID |
C84756 |
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| NCI_Definition |
A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations. |
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| NCI_PT |
Hepatolenticular Degeneration |
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| NICHD_Definition |
_ |
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| prefixIRI |
Copper_Metabolism_Disorder |
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| prefLabel |
Copper_Metabolism_Disorder |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN |
Disorder of Copper Metabolism |
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| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Metabolic_Disorder |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.owl-ontologies.com/NPOntology.owl#DOID_895 | NATPRO | LOOM | |
| http://purl.bioontology.org/ontology/MEDDRA/10061091 | MEDDRA | LOOM |