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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;   Nervous System Degenerative Hereditary Diseases
 primary_id: MESH:D020271
 alt_id: RDO:0002544
For additional species annotation, visit the Alliance of Genome Resources.


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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 17205
        disease of anatomical entity 16551
          nervous system disease 12097
            neurodegenerative disease 3507
              Nervous System Heredodegenerative Disorders 2118
                Alexander disease 1
                Canavan disease 14
                Cerebrocortical Degeneration of Infancy 0
                Cockayne syndrome + 14
                Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
                Dystonia Musculorum Deformans + 4
                Familial Amyloid Polyneuropathies + 20
                Gerstmann-Straussler-Scheinker syndrome 1
                Gilles de la Tourette syndrome + 11
                Hereditary Central Nervous System Demyelinating Diseases + 53
                Hereditary Optic Atrophies + 64
                Huntington's Disease-Like Syndrome 1
                Huntington's disease + 145
                Huntington's disease-like 2 1
                Kennedy's disease 2
                Lafora disease 2
                Leukoencephalomyelopathy 1
                Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
                Mental Retardation, X-Linked + 719
                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 2
                Spongiform Encephalopathy with Neuropsychiatric Features 1
                Unverricht-Lundborg syndrome + 3
                Wilson disease + 45
                childhood spinal muscular atrophy + 6
                familial encephalopathy with neuroserpin inclusion bodies 3
                hereditary sensory neuropathy + 41
                mitochondrial DNA depletion syndrome 6 1
                motor peripheral neuropathy + 497
                myotonia congenita + 10
                myotonic dystrophy type 1 + 7
                neuroacanthocytosis + 2
                neurofibromatosis + 34
                neurogenic scapuloperoneal syndrome Kaeser type 1
                neuronal ceroid lipofuscinosis + 179
                pantothenate kinase-associated neurodegeneration + 4
                primary cerebellar degeneration + 345
                spinal muscular atrophy with lower extremity predominance + 4
                syndromic microphthalmia 10 0
                tuberous sclerosis + 101
    Path 2
    Term Annotations click to browse term
      disease 17205
        disease of anatomical entity 16551
          nervous system disease 12097
            central nervous system disease 10373
              neurodegenerative disease 3507
                Nervous System Heredodegenerative Disorders 2118
                  Alexander disease 1
                  Canavan disease 14
                  Cerebrocortical Degeneration of Infancy 0
                  Cockayne syndrome + 14
                  Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
                  Dystonia Musculorum Deformans + 4
                  Familial Amyloid Polyneuropathies + 20
                  Gerstmann-Straussler-Scheinker syndrome 1
                  Gilles de la Tourette syndrome + 11
                  Hereditary Central Nervous System Demyelinating Diseases + 53
                  Hereditary Optic Atrophies + 64
                  Huntington's Disease-Like Syndrome 1
                  Huntington's disease + 145
                  Huntington's disease-like 2 1
                  Kennedy's disease 2
                  Lafora disease 2
                  Leukoencephalomyelopathy 1
                  Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
                  Mental Retardation, X-Linked + 719
                  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 2
                  Spongiform Encephalopathy with Neuropsychiatric Features 1
                  Unverricht-Lundborg syndrome + 3
                  Wilson disease + 45
                  childhood spinal muscular atrophy + 6
                  familial encephalopathy with neuroserpin inclusion bodies 3
                  hereditary sensory neuropathy + 41
                  mitochondrial DNA depletion syndrome 6 1
                  motor peripheral neuropathy + 497
                  myotonia congenita + 10
                  myotonic dystrophy type 1 + 7
                  neuroacanthocytosis + 2
                  neurofibromatosis + 34
                  neurogenic scapuloperoneal syndrome Kaeser type 1
                  neuronal ceroid lipofuscinosis + 179
                  pantothenate kinase-associated neurodegeneration + 4
                  primary cerebellar degeneration + 345
                  spinal muscular atrophy with lower extremity predominance + 4
                  syndromic microphthalmia 10 0
                  tuberous sclerosis + 101
    paths to the root