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Ontology Browser

Term:
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (DOID:9006670)
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Parent Terms Term With Siblings Child Terms
Alexander Disease  
arthrogryposis due to muscular dystrophy  
Bethlem myopathy +   
Canavan disease  
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
Cockayne syndrome +   
congenital merosin-deficient muscular dystrophy 1A +   
congenital muscular dystrophy 1B 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy due to LMNA mutation  
congenital muscular dystrophy merosin-positive 
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Muscular Dystrophy with Cerebellar Atrophy 
Congenital Muscular Dystrophy with Rapid Progression 
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Congenital Muscular Dystrophy, Davignon-Chauveau Type  
Dystonia Musculorum Deformans +   
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
Kennedy's disease  
Lafora disease  
Leukoencephalomyelopathy  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
megaconial type congenital muscular dystrophy  
Mental Retardation, X-Linked +   
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
muscular dystrophy-dystroglycanopathy +   
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Psychomotor Deterioration  
rigid spine muscular dystrophy 1  
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndromic microphthalmia 10 
tuberous sclerosis +   
Ullrich congenital muscular dystrophy +   
Unverricht-Lundborg syndrome +   
Walker-Warburg syndrome +   
Wilson disease +   

Synonyms
Primary IDs: MESH:C563378
Alternate IDs: RDO:0012650

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.