Combined Phenotype Ontology

Last uploaded: November 18, 2021
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

MSH:C580316

UMLS:C2678065

definition

Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.

has exact synonym

Myofibrillar changes

id

HP:0003715

label

Myofibrillar myopathy

notation

HP:0003715

prefLabel

Myofibrillar myopathy

subClassOf

http://purl.obolibrary.org/obo/HP_0003198

http://purl.obolibrary.org/obo/MP_0000751

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