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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C98985
http://purl.obolibrary.org/obo/NCIT_C98985
|
|---|---|
| Preferred Name | Metabolic Myopathy |
| Definitions |
A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. |
|---|---|
| label |
Metabolic Myopathy
|
| prefLabel |
Metabolic Myopathy
|
| in_subset | |
| Preferred_Name |
Metabolic Myopathy
|
| UMLS_CUI |
C0270984
|
| prefixIRI |
NCIT:C98985
|
| Contributing_Source |
NICHD
|
| subClassOf | |
| code |
C98985
|
| type | |
| Semantic_Type |
Disease or Syndrome
|
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