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Disease association ontology term - MONDO:0019952 - congenital myopathy

Term summary

ID
MONDO:0019952
Name
congenital myopathy
Ontology or CV name
Disease association

Parents

Annotation

Disease association

MONDO:0100084 - alpha-actinopathy

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Genes:

MONDO:0014532 - autosomal dominant mitochondrial myopathy with exercise intolerance

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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: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:0015487 - fatal infantile encephalocardiomyopathy

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MONDO:0013472 - fatal infantile hypertonic myofibrillar myopathy

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MONDO:0009637 - inborn mitochondrial myopathy

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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:0008050 - MYH7-related skeletal myopathy

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MONDO:0030927 - myofibrillar myopathy 11

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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: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: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: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:0010683 - X-linked myotubular myopathy

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MONDO:0100138 - X-linked recessive mitochondrial myopathy

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