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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Nervous System Heredodegenerative Disorders
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Accession:DOID:9001196 term browser browse the term
Definition:Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.
Synonyms:exact_synonym: Degenerative Disease, Nervous System, Hereditary;   Degenerative Hereditary Disorders, Nervous System;   Hereditary Neurodegenerative Disease;   Hereditary Neurodegenerative Diseases;   INHERITED NEURODEGENERATIVE DISORDER;   Nervous System Degenerative Hereditary Diseases
 primary_id: MESH:D020271


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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 18969
        disease of anatomical entity 18249
          nervous system disease 14091
            neurodegenerative disease 4906
              Nervous System Heredodegenerative Disorders 3255
                Alexander disease 1
                Canavan disease 17
                Cerebrocortical Degeneration of Infancy 0
                Cockayne syndrome + 37
                Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
                Dystonia Musculorum Deformans + 21
                Familial Amyloid Polyneuropathies + 21
                Familial Partial Lipodystrophy Type 7 1
                Gerstmann-Straussler-Scheinker syndrome 1
                Gilles de la Tourette syndrome + 12
                Hereditary Central Nervous System Demyelinating Diseases + 114
                Hereditary Optic Atrophies + 82
                Huntington's Disease-Like Syndrome 1
                Huntington's disease + 204
                Huntington's disease-like 2 1
                Kennedy's disease 2
                Lafora disease + 3
                Leukoencephalomyelopathy 1
                Opticocochleodentate Degeneration 0
                PCWH syndrome 3
                Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 0
                Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 0
                Progressive Psychomotor Deterioration 1
                Spongiform Encephalopathy with Neuropsychiatric Features 1
                Unverricht-Lundborg syndrome + 3
                Wilson disease + 52
                X-Linked Intellectual Developmental Disorders + 809
                childhood spinal muscular atrophy + 9
                familial encephalopathy with neuroserpin inclusion bodies 3
                hereditary sensory neuropathy + 51
                mitochondrial DNA depletion syndrome 6 3
                motor peripheral neuropathy + 1201
                myotonia congenita + 12
                myotonic dystrophy type 1 + 17
                neuroacanthocytosis + 4
                neurofibromatosis + 55
                neurogenic scapuloperoneal syndrome Kaeser type 1
                neuronal ceroid lipofuscinosis + 213
                pantothenate kinase-associated neurodegeneration 60
                primary cerebellar degeneration + 582
                spinal muscular atrophy with predominant lower extremity + 14
                syndromic microphthalmia 10 0
                tuberous sclerosis + 181
    Path 2
    Term Annotations click to browse term
      disease 18969
        disease of anatomical entity 18249
          nervous system disease 14091
            central nervous system disease 12432
              neurodegenerative disease 4906
                Nervous System Heredodegenerative Disorders 3255
                  Alexander disease 1
                  Canavan disease 17
                  Cerebrocortical Degeneration of Infancy 0
                  Cockayne syndrome + 37
                  Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
                  Dystonia Musculorum Deformans + 21
                  Familial Amyloid Polyneuropathies + 21
                  Familial Partial Lipodystrophy Type 7 1
                  Gerstmann-Straussler-Scheinker syndrome 1
                  Gilles de la Tourette syndrome + 12
                  Hereditary Central Nervous System Demyelinating Diseases + 114
                  Hereditary Optic Atrophies + 82
                  Huntington's Disease-Like Syndrome 1
                  Huntington's disease + 204
                  Huntington's disease-like 2 1
                  Kennedy's disease 2
                  Lafora disease + 3
                  Leukoencephalomyelopathy 1
                  Opticocochleodentate Degeneration 0
                  PCWH syndrome 3
                  Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 0
                  Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 0
                  Progressive Psychomotor Deterioration 1
                  Spongiform Encephalopathy with Neuropsychiatric Features 1
                  Unverricht-Lundborg syndrome + 3
                  Wilson disease + 52
                  X-Linked Intellectual Developmental Disorders + 809
                  childhood spinal muscular atrophy + 9
                  familial encephalopathy with neuroserpin inclusion bodies 3
                  hereditary sensory neuropathy + 51
                  mitochondrial DNA depletion syndrome 6 3
                  motor peripheral neuropathy + 1201
                  myotonia congenita + 12
                  myotonic dystrophy type 1 + 17
                  neuroacanthocytosis + 4
                  neurofibromatosis + 55
                  neurogenic scapuloperoneal syndrome Kaeser type 1
                  neuronal ceroid lipofuscinosis + 213
                  pantothenate kinase-associated neurodegeneration 60
                  primary cerebellar degeneration + 582
                  spinal muscular atrophy with predominant lower extremity + 14
                  syndromic microphthalmia 10 0
                  tuberous sclerosis + 181
    paths to the root