Preferred Name | Myofibrillar myopathy | |
Synonyms |
Myofibrillar changes |
|
Definitions |
Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. This feature is demonstrated by muscle biopsy. |
|
ID |
http://purl.obolibrary.org/obo/HP_0003715 |
|
comment |
This feature is demonstrated by muscle biopsy. |
|
database_cross_reference |
SNOMEDCT_US:699269005 UMLS:C2678065 |
|
definition |
Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. |
|
has_exact_synonym |
Myofibrillar changes |
|
has_obo_namespace |
human_phenotype |
|
id |
HP:0003715 |
|
label |
Myofibrillar myopathy |
|
notation |
HP:0003715 |
|
prefLabel |
Myofibrillar myopathy |
|
treeView | ||
subClassOf |
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