Disease Browser
Parent Node: Brain Diseases, Metabolic, Inborn (D020739) Parent Node: Demyelinating Diseases (D003711) Parent Node: Heredodegenerative Disorders, Nervous System (D020271) Parent Node: Leukoencephalopathies (D056784) ..Starting node Hereditary Central Nervous System Demyelinating Diseases (D020279) Child Nodes:
........Adrenoleukodystrophy (D000326) ........Alexander Disease (D038261) ........Canavan Disease (D017825) ........Dysmyelination With Jaundice (C565610) ........Hypomyelination, Global Cerebral (C567847) ........Leukodystrophy, Dysmyelinating, with Oligodontia (C564344) ........Leukodystrophy, Globoid Cell (D007965) ........Leukodystrophy, Hypomyelinating, 2 (C563855) ........Leukodystrophy, Hypomyelinating, 4 (C567390) ........Leukodystrophy, Hypomyelinating, 5 (C567166) ........Leukodystrophy, Hypomyelinating, 6 (C567314) ........Leukodystrophy, Metachromatic (D007966) ........Megalencephalic leukoencephalopathy with subcortical cysts (C536141) ........Megalencephaly with Dysmyelination (C565408) ........Optic Atrophy with Demyelinating Disease of CNS (C563496) ........Pelizaeus-Merzbacher Disease (D020371) ........Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007) Sister Nodes: ..Ataxia, Spastic, 3, Autosomal Recessive (C566956) ..Brain Small Vessel Disease with Hemorrhage (C564372) ..Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990) ..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401) ..Dementia, Vascular (D015140) ..Demyelinating Autoimmune Diseases, CNS (D020278) ..Gliosis, Familial Progressive Subcortical (C565634) ..Hereditary Central Nervous System Demyelinating Diseases (D020279) ..Hereditary Diffuse Leukoencephalopathy with Spheroids (C580150) ..Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313) ..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009) ..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724) ..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654) ..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065) ..Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852) ..Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888) ..Leukoencephalopathy, Cystic, Without Megalencephaly (C567845) ..Leukoencephalopathy, Progressive Multifocal (D007968) ..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361) ..Posterior Leukoencephalopathy Syndrome (D054038) ..Ribose 5-Phosphate Isomerase Deficiency (C563212) ..Telencephalic leukoencephalopathy (C536954) ..Vanishing White Matter Leukodystrophy with Ovarian Failure (C565836) UMLS . MedGen , OMIM , CTD
Term ID: 5108 Name: Hereditary Central Nervous System Demyelinating Diseases Definition: Inherited conditions characterized by a loss of MYELIN in the central nervous system. Alternative IDs: ParentIDs: MESH:D003711|MESH:D020271|MESH:D020739|MESH:D056784 TreeNumbers: C10.228.140.163.100.362 |C10.228.140.695.625 |C10.314.400 |C10.574.500.494 |C16.320.400.367 |C16.320.565.189.362 |C18.452.132.100.362 |C18.452.648.189.362 Synonyms: Central Nervous System Demyelinating Diseases, Hereditary |Central Nervous System Demyelinating Hereditary Diseases |Central Nervous System Hereditary Demyelinating Diseases |Demyelinating Central Nervous System Diseases, Hereditary |Demyelinating Diseases, Slim Mappings: Genetic disease (inborn)|Metabolic disease|Nervous system disease Reference:
MedGen: D020279
MeSH: D020279 OMIM: Genes: Phenotypes Disease Causing ClinVar Variants
Hereditary Central Nervous System Demyelinating Diseases 
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