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Hereditary Central Nervous System Demyelinating Diseases (DOID:9008095)
Annotations: Rat: (41) Mouse: (43) Human: (46) Chinchilla: (40) Bonobo: (42) Dog: (43) Squirrel: (42) Pig: (43)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
adrenoleukodystrophy +   
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Alexander disease  
Asparagine Synthetase Deficiency  
Boylan Dew Greco Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
CAMFAK Syndrome 
Canavan disease  
central pontine myelinolysis  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebrocortical Degeneration of Infancy 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood spinal muscular atrophy +   
Cockayne syndrome +   
COL4A1-related familial vascular leukoencephalopathy  
combined oxidative phosphorylation deficiency 12  
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
Cystic Leukoencephalopathy without Megalencephaly  
Defect of Tricarboxylic Acid Cycle 
Demyelinating Autoimmune Diseases, CNS +   
Dystonia Musculorum Deformans +   
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
galactosemia +   
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
glycine encephalopathy +   
Groll Hirschowitz Syndrome 
Hamano Tsukamoto Syndrome 
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
Inherited conditions characterized by a loss of MYELIN in the central nervous system.
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
homocystinuria +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
hyperlysinemia +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Kennedy's disease  
Labrune Syndrome  
Lafora disease  
Leigh disease +   
Lesch-Nyhan syndrome +   
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lysosomal Storage Diseases, Nervous System +   
maple syrup urine disease +   
Marchiafava-Bignami Disease 
MELAS syndrome +   
Menkes disease +   
Mental Retardation, X-Linked +   
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
oculocerebrorenal syndrome +   
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
Ophthalmoplegic Migraine 
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
phenylketonuria +   
polyradiculoneuropathy +   
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant  
Posterior Leukoencephalopathy Syndrome  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy 
Progressive Psychomotor Deterioration  
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
Ribose 5-Phosphate Isomerase Deficiency  
Silengo Lerone Pelizza Syndrome 
spastic ataxia 3  
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
Subacute Combined Degeneration  
syndromic microphthalmia 10 
Telencephalic Leukoencephalopathy 
tuberous sclerosis +   
tyrosinemia +   
Unverricht-Lundborg syndrome +   
urea cycle disorder +   
vascular dementia +   
Wilson disease +   
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
Zellweger syndrome +   

Exact Synonyms: leucodystrophy
Primary IDs: MESH:D020279
Alternate IDs: OMIA:001130
Definition Sources: MESH:D020279

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