Muscular dystrophy (Phenotype)

Synonyms:HP:0003544, HP:0003741, HP:0003793, HP:0003806, HP:0007081

Id:HP:0003560

Description:The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.

Results found

Linked to

	Label	Description
	CMTR1 Gene (Entity type)	ENSG00000137200 - cap methyltransferase 1
	DYSF Gene (Entity type)	ENSG00000135636 - dysferlin
	SOX6 Gene (Entity type)	ENSG00000110693 - SRY-box transcription factor 6
	POPDC1 Gene (Entity type)	ENSG00000112276 - popeye domain cAMP effector 1
	SU000677 Subject (Entity type)	A subject from Metabolomics produced as part of the PR000460 project
	KIR2DL3 Gene (Entity type)	ENSG00000277317 - killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 [Source:HGNC Symbol;Acc:HGNC:6331]
	RYR1 Gene (Entity type)	ENSG00000196218 - ryanodine receptor 1
	KIR2DL3 Gene (Entity type)	ENSG00000276459 - killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 [Source:HGNC Symbol;Acc:HGNC:6331]
	SU000673 Subject (Entity type)	A subject from Metabolomics produced as part of the PR000460 project
	ADAM9 Gene (Entity type)	ENSG00000168615 - ADAM metallopeptidase domain 9

CMTR1

Gene (Entity type)

ENSG00000137200 - cap methyltransferase 1

DYSF

Gene (Entity type)

ENSG00000135636 - dysferlin

SOX6

Gene (Entity type)

ENSG00000110693 - SRY-box transcription factor 6

POPDC1

Gene (Entity type)

ENSG00000112276 - popeye domain cAMP effector 1

SU000677

Subject (Entity type)

A subject from Metabolomics produced as part of the PR000460 project

KIR2DL3

Gene (Entity type)

ENSG00000277317 - killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 [Source:HGNC Symbol;Acc:HGNC:6331]

RYR1

Gene (Entity type)

ENSG00000196218 - ryanodine receptor 1

KIR2DL3

Gene (Entity type)

ENSG00000276459 - killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 [Source:HGNC Symbol;Acc:HGNC:6331]

SU000673

Subject (Entity type)

A subject from Metabolomics produced as part of the PR000460 project

ADAM9

Gene (Entity type)

ENSG00000168615 - ADAM metallopeptidase domain 9

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Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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