Preferred Name

Muscular Disease
Synonyms

Myopathy

Muscle Disorder

Definitions

Acquired, familial, and congenital disorders of skeletal muscle ( MUSCLE, SKELETAL) and smooth muscle ( MUSCLE, SMOOTH) (MeSH).

ID

http://uri.neuinfo.org/nif/nifstd/birnlex_12779

alternative label

Myopathy

Muscle Disorder

createdDate

2007-10-08

definition

Acquired, familial, and congenital disorders of skeletal muscle ( MUSCLE, SKELETAL) and smooth muscle ( MUSCLE, SMOOTH) (MeSH).

editorial note

Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by BIRN researchers. Though this will be te case, BIRNLex still needs to provide a core asserted hierarchy for a broad swarth of nervous system disease, so as to enable BIRN researchers to link to the breadth of disorders that may impact or relate to those directly under study.

http://uri.neuinfo.org/nif/nifstd/readable/uncurated

externalSourceId

D009135

_8.3_8

hasBirnlexCurator

http://uri.neuinfo.org/nif/nifstd/readable/Bill_Bug

hasCurationStatus

http://uri.neuinfo.org/nif/nifstd/readable/uncurated

hasDefinitionSource

http://uri.neuinfo.org/nif/nifstd/readable/MeSH_defSource

hasExternalSource

http://uri.neuinfo.org/nif/nifstd/readable/MeSH

label

Muscular Disease

MeshUid

D009135

modifiedDate

2007-10-08

nifID

_8.3_8

note

Acquired, familial, and congenital disorders of skeletal muscle ( MUSCLE, SKELETAL) and smooth muscle ( MUSCLE, SMOOTH) (MeSH).

Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by BIRN researchers. Though this will be te case, BIRNLex still needs to provide a core asserted hierarchy for a broad swarth of nervous system disease, so as to enable BIRN researchers to link to the breadth of disorders that may impact or relate to those directly under study.

http://uri.neuinfo.org/nif/nifstd/readable/uncurated

preferred label

Muscular Disease

Resource Identifier

D009135

_8.3_8

synonym

Myopathy

Muscle Disorder

subClassOf

http://uri.neuinfo.org/nif/nifstd/birnlex_11013

http://purl.obolibrary.org/obo/DOID_4

http://purl.obolibrary.org/obo/DOID_66

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