autosomal recessive limb-girdle muscular dystrophy type 2M
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31
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autosomal recessive limb-girdle muscular dystrophy type 2M
Summary
autosomal recessive limb-girdle muscular dystrophy type 2M is a developmental defect during embryogenesis[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2M's instance of is recorded as developmental defect during embryogenesis[2].
- autosomal recessive limb-girdle muscular dystrophy type 2M's instance of is recorded as rare disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2M's instance of is recorded as class of disease[4].
- autosomal recessive limb-girdle muscular dystrophy type 2M is a type of autosomal recessive limb-girdle muscular dystrophy[5].
- autosomal recessive limb-girdle muscular dystrophy type 2M is a type of congenital disorder of glycosylation with dilated cardiomyopathy[6].
- autosomal recessive limb-girdle muscular dystrophy type 2M is a type of congenital disorder of glycosylation with neurological involvement[7].
- autosomal recessive limb-girdle muscular dystrophy type 2M is a type of qualitative or quantitative defects of fukutin[8].
- autosomal recessive limb-girdle muscular dystrophy type 2M is a type of disorder of O-mannosylglycan synthesis[9].
- autosomal recessive limb-girdle muscular dystrophy type 2M is a type of neuromuscular disease with dilated cardiomyopathy[10].
- autosomal recessive limb-girdle muscular dystrophy type 2M's health specialty is recorded as neurology[11].
- autosomal recessive limb-girdle muscular dystrophy type 2M's genetic association is recorded as FKTN[12].
- autosomal recessive limb-girdle muscular dystrophy type 2M's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110296[13].
- autosomal recessive limb-girdle muscular dystrophy type 2M's exact match is recorded as http://identifiers.org/doid/DOID:0110296[14].
- autosomal recessive limb-girdle muscular dystrophy type 2M's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_206554[15].
- autosomal recessive limb-girdle muscular dystrophy type 2M's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].