Disease

autosomal dominant limb-girdle muscular dystrophy type 2

Name: autosomal dominant limb-girdle muscular dystrophy type 2
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. autosomal dominant limb-girdle muscular dystrophy type 1F LGMD1F muscular dystrophy limb-girdle type 1F

Definition

An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.

Synonyms

autosomal dominant limb-girdle muscular dystrophy type 1F
LGMD1F

Cross References

ICD10CM:G71.0
MIM:608423

Parent Terms

autosomal dominant limb-girdle muscular dystrophy

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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