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)	ENSG00000135480 - keratin 7
	SERPINA1 Gene (Entity type)	ENSG00000197249 - serpin family A member 1
	CEACAM6 Gene (Entity type)	ENSG00000086548 - CEA cell adhesion molecule 6
	KRT5 Gene (Entity type)	ENSG00000186081 - keratin 5
	ANPEP Gene (Entity type)	ENSG00000166825 - alanyl aminopeptidase, membrane
	CRYAB Gene (Entity type)	ENSG00000109846 - crystallin alpha B
	KRT18 Gene (Entity type)	ENSG00000111057 - keratin 18
	CEACAM5 Gene (Entity type)	ENSG00000105388 - CEA cell adhesion molecule 5
	FHL1 Gene (Entity type)	ENSG00000022267 - four and a half LIM domains 1
	KRT6A Gene (Entity type)	ENSG00000205420 - keratin 6A

KRT7

Gene (Entity type)

ENSG00000135480 - keratin 7

SERPINA1

Gene (Entity type)

ENSG00000197249 - serpin family A member 1

CEACAM6

Gene (Entity type)

ENSG00000086548 - CEA cell adhesion molecule 6

KRT5

Gene (Entity type)

ENSG00000186081 - keratin 5

ANPEP

Gene (Entity type)

ENSG00000166825 - alanyl aminopeptidase, membrane

CRYAB

Gene (Entity type)

ENSG00000109846 - crystallin alpha B

KRT18

Gene (Entity type)

ENSG00000111057 - keratin 18

CEACAM5

Gene (Entity type)

ENSG00000105388 - CEA cell adhesion molecule 5

FHL1

Gene (Entity type)

ENSG00000022267 - four and a half LIM domains 1

KRT6A

Gene (Entity type)

ENSG00000205420 - keratin 6A

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Consortium

Community

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

This repository is under review for potential modification in compliance with Administration directives.