Skeletal muscle atrophy (Phenotype)

Synonyms:HP:0001299, HP:0003545, HP:0003671, HP:0003702, HP:0003746, HP:0006995, HP:0007171, HP:0007356, HP:0009010, HP:0009048, HP:0100868, Amyotrophy, Amyotrophy involving the extremities, Muscle atrophy, Muscle atrophy, neurogenic, Muscle degeneration, Muscle hypotrophy, Muscle wasting, Muscular atrophy, Neurogenic muscle atrophy, Neurogenic muscle atrophy, especially in the lower limbs, Neurogenic muscular atrophy

Id:HP:0003202

Description:The presence of skeletal muscular atrophy (which is also known as amyotrophy).

Results found

Linked to

	Label	Description
	NLRP7 Gene (Entity type)	ENSG00000275483 - NLR family pyrin domain containing 7 [Source:HGNC Symbol;Acc:HGNC:22947]
	SLC52A2 Gene (Entity type)	ENSG00000185803 - solute carrier family 52 member 2
	CMTR1 Gene (Entity type)	ENSG00000137200 - cap methyltransferase 1
	CTNS Gene (Entity type)	ENSG00000040531 - cystinosin, lysosomal cystine transporter
	CPT1C Gene (Entity type)	ENSG00000169169 - carnitine palmitoyltransferase 1C
	KLC2 Gene (Entity type)	ENSG00000174996 - kinesin light chain 2
	EXOSC9 Gene (Entity type)	ENSG00000123737 - exosome component 9
	WDPCP Gene (Entity type)	ENSG00000143951 - WD repeat containing planar cell polarity effector
	AP5M1 Gene (Entity type)	ENSG00000053770 - adaptor related protein complex 5 subunit mu 1
	AFG3L2 Gene (Entity type)	ENSG00000141385 - AFG3 like matrix AAA peptidase subunit 2

NLRP7

Gene (Entity type)

ENSG00000275483 - NLR family pyrin domain containing 7 [Source:HGNC Symbol;Acc:HGNC:22947]

SLC52A2

Gene (Entity type)

ENSG00000185803 - solute carrier family 52 member 2

CMTR1

Gene (Entity type)

ENSG00000137200 - cap methyltransferase 1

CTNS

Gene (Entity type)

ENSG00000040531 - cystinosin, lysosomal cystine transporter

CPT1C

Gene (Entity type)

ENSG00000169169 - carnitine palmitoyltransferase 1C

KLC2

Gene (Entity type)

ENSG00000174996 - kinesin light chain 2

EXOSC9

Gene (Entity type)

ENSG00000123737 - exosome component 9

WDPCP

Gene (Entity type)

ENSG00000143951 - WD repeat containing planar cell polarity effector

AP5M1

Gene (Entity type)

ENSG00000053770 - adaptor related protein complex 5 subunit mu 1

AFG3L2

Gene (Entity type)

ENSG00000141385 - AFG3 like matrix AAA peptidase subunit 2

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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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