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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_C84685
http://purl.obolibrary.org/obo/NCIT_C84685
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|---|---|
| Preferred Name | Emery-Dreifuss Muscular Dystrophy |
| Definitions |
An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck. |
|---|---|
| label |
Emery-Dreifuss Muscular Dystrophy
|
| prefLabel |
Emery-Dreifuss Muscular Dystrophy
|
| in_subset | |
| Preferred_Name |
Emery-Dreifuss Muscular Dystrophy
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| UMLS_CUI |
C0410189
|
| prefixIRI |
NCIT:C84685
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| Contributing_Source |
Cellosaurus
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| subClassOf | |
| code |
C84685
|
| type | |
| Semantic_Type |
Disease or Syndrome
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