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
	KRT7 Gene (Entity type)	keratin 7
	SERPINA1 Gene (Entity type)	serpin family A member 1
	CEACAM6 Gene (Entity type)	CEA cell adhesion molecule 6
	KRT5 Gene (Entity type)	keratin 5
	SU000675 Subject (Entity type)	A subject from Metabolomics produced as part of the PR000460 project
	SU000676 Subject (Entity type)	A subject from Metabolomics produced as part of the PR000460 project
	SU000674 Subject (Entity type)	A subject from Metabolomics produced as part of the PR000460 project
	CEACAM5 Gene (Entity type)	CEA cell adhesion molecule 5
	SU000677 Subject (Entity type)	A subject from Metabolomics produced as part of the PR000460 project
	KRT18 Gene (Entity type)	keratin 18

KRT7

Gene (Entity type)

keratin 7

SERPINA1

Gene (Entity type)

serpin family A member 1

CEACAM6

Gene (Entity type)

CEA cell adhesion molecule 6

KRT5

Gene (Entity type)

keratin 5

SU000675

Subject (Entity type)

A subject from Metabolomics produced as part of the PR000460 project

SU000676

Subject (Entity type)

A subject from Metabolomics produced as part of the PR000460 project

SU000674

Subject (Entity type)

A subject from Metabolomics produced as part of the PR000460 project

CEACAM5

Gene (Entity type)

CEA cell adhesion molecule 5

SU000677

Subject (Entity type)

A subject from Metabolomics produced as part of the PR000460 project

KRT18

Gene (Entity type)

keratin 18

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Consortium

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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 2025

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