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Disease association ontology term - MONDO:0700223 - hereditary skeletal muscle disorder

Term summary

ID
MONDO:0700223
Name
hereditary skeletal muscle disorder
Ontology or CV name
Disease association
Definition
An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.

Parents

Annotation

Disease association

MONDO:0100084 - alpha-actinopathy

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Genes:

MONDO:0021018 - autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

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MONDO:0012034 - autosomal dominant limb-girdle muscular dystrophy type 1F

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MONDO:0014532 - autosomal dominant mitochondrial myopathy with exercise intolerance

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MONDO:0012248 - autosomal recessive limb-girdle muscular dystrophy type 2K

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MONDO:0013162 - autosomal recessive limb-girdle muscular dystrophy type 2N

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MONDO:0014142 - autosomal recessive limb-girdle muscular dystrophy type 2T

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MONDO:0010977 - Brody myopathy

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MONDO:0011451 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

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MONDO:0014051 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

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MONDO:0014667 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

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MONDO:0014668 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

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MONDO:0018947 - centronuclear myopathy

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MONDO:0013116 - congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

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MONDO:0014023 - congenital muscular dystrophy with intellectual disability and severe epilepsy

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MONDO:0014896 - congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

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MONDO:0859264 - congenital myopathy 11

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MONDO:0957224 - congenital myopathy 21 with early respiratory failure

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MONDO:0979229 - congenital myopathy 26

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MONDO:0980756 - congenital myopathy 28 with rigid spine

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MONDO:0008070 - congenital myopathy 2a, typical, autosomal dominant

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MONDO:0859517 - congenital myopathy 2b, severe infantile, autosomal recessive

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MONDO:0859523 - congenital myopathy 2c, severe infantile, autosomal dominant

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MONDO:0800341 - congenital myopathy 4A, autosomal dominant

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MONDO:0012239 - congenital myopathy 4B, autosomal recessive

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MONDO:0008409 - congenital myopathy 7A, myosin storage, autosomal dominant

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MONDO:0034109 - congenital myopathy with reduced type 2 muscle fibers

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MONDO:0859571 - diaphragmatic hernia 4, with cardiovascular defects

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MONDO:0012808 - dilated cardiomyopathy 1AA

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MONDO:0013049 - DPM3-congenital disorder of glycosylation

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MONDO:0015487 - fatal infantile encephalocardiomyopathy

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MONDO:0013472 - fatal infantile hypertonic myofibrillar myopathy

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MONDO:0010912 - fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

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MONDO:0009706 - hereditary myopathy with lactic acidosis due to ISCU deficiency

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MONDO:0010606 - hernia, anterior diaphragmatic

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MONDO:0009637 - inborn mitochondrial myopathy

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MONDO:0000507 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia

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MONDO:0008178 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

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MONDO:0011246 - megaconial type congenital muscular dystrophy

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MONDO:0030935 - mitochondrial complex 2 deficiency, nuclear type 2

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MONDO:0030937 - mitochondrial complex 2 deficiency, nuclear type 3

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MONDO:0030974 - mitochondrial complex 2 deficiency, nuclear type 4

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MONDO:0100294 - mitochondrial complex II deficiency, nuclear type 1

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MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

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MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

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MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

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MONDO:0020714 - mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy

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MONDO:0044714 - mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

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MONDO:0020121 - muscular dystrophy

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MONDO:0009682 - muscular dystrophy, congenital, with rapid progression

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MONDO:0957270 - muscular dystrophy, limb-girdle, autosomal recessive 28

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MONDO:0009364 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

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MONDO:0014140 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

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MONDO:0013154 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

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MONDO:0033556 - muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

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MONDO:0013159 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

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MONDO:0014141 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

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MONDO:0013160 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

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MONDO:0000171 - muscular dystrophy-dystroglycanopathy, type A

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MONDO:0008050 - MYH7-related skeletal myopathy

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MONDO:0030927 - myofibrillar myopathy 11

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MONDO:0012130 - myofibrillar myopathy 2

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MONDO:0014220 - myopathy due to myoadenylate deaminase deficiency

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MONDO:0009703 - myopathy with abnormal lipid metabolism

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MONDO:0009709 - myopathy, centronuclear, 2

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MONDO:0032852 - myopathy, congenital, with structured cores and z-line abnormalities

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MONDO:0014877 - myopathy, distal, 5

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MONDO:0032853 - myopathy, distal, 6, adult-onset, autosomal dominant

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MONDO:0024553 - myopathy, lactic acidosis, and sideroblastic anemia 1

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MONDO:0013307 - myopathy, lactic acidosis, and sideroblastic anemia 2

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MONDO:0859168 - myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy

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MONDO:0976133 - myopathy, myofibrillar, 13, with rimmed vacuoles

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MONDO:0009708 - myopathy, myosin storage, autosomal recessive

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MONDO:0011577 - myopathy, proximal, and ophthalmoplegia

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MONDO:0011266 - myotonic dystrophy type 2

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MONDO:0018958 - nemaline myopathy

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MONDO:0009725 - nemaline myopathy 2

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MONDO:0012538 - nemaline myopathy 7

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MONDO:0958176 - oculopharyngeal muscular dystrophy 1

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MONDO:0014526 - polyglucosan body myopathy type 2

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MONDO:0005181 - progressive external ophthalmoplegia

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MONDO:0024528 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

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MONDO:0012238 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

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MONDO:0013117 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

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MONDO:0009783 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

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MONDO:0014656 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

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MONDO:0020845 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

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MONDO:0957993 - progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

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MONDO:0014800 - progressive scapulohumeroperoneal distal myopathy

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MONDO:0011835 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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MONDO:0014784 - severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

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MONDO:0010684 - X-linked myopathy with excessive autophagy

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MONDO:0010683 - X-linked myotubular myopathy

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MONDO:0100138 - X-linked recessive mitochondrial myopathy

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