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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:neurodegenerative disease
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Accession:DOID:1289 term browser browse the term
Definition:A central nervous system disease that results in the progressive deterioration of function or structure of neurons. (DO)
Synonyms:exact_synonym: Degenerative Neurologic Disease;   Degenerative Neurologic Disorder;   Nervous System Degenerative Diseases;   Neurodegenerative Diseases;   Neurodegenerative Disorder;   Neurodegenerative Disorders;   central nervous system degenerative diseases;   degenerative disease;   degenerative neurologic diseases;   degenerative neurologic disorders;   neurologic degenerative condition;   neurologic degenerative conditions;   spinal cord degenerative diseases
 narrow_synonym: Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy;   progressive neurodegenerative disease;   severe cystic degeneration of the brain;   subacute myelo-opticoneuropathy
 broad_synonym: TMEM63B-ASSOCIATED DISORDER
 primary_id: MESH:D019636
 xref: EFO:0005772;   EFO:0020919;   ICD10CM:G31.9;   NCI:C27090
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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 16465
        disease of anatomical entity 14117
          nervous system disease 12341
            neurodegenerative disease 4479
              BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 1
              Childhood-Onset Neurodegeneration with Cerebellar Atrophy 1
              Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 1
              Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities 1
              FINCA Syndrome 1
              Feigenbaum Bergeron Richardson Syndrome 0
              Huntington's disease-like 2 1
              Idiopathic Basal Ganglia Calcification 1 11
              Idiopathic Basal Ganglia Calcification 6 1
              Idiopathic Basal Ganglia Calcification 7 1
              LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME 1
              NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT 1
              NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 1
              NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE 1
              NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION 1
              NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY 1
              NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA 1
              NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE 1
              Nervous System Heredodegenerative Disorders + 3073
              Nervous System Paraneoplastic Syndromes + 16
              Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 1
              PEHO syndrome 4
              Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 0
              Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
              SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS 1
              Spastic Pseudosclerosis 0
              Subacute Combined Degeneration 2
              TDP-43 Proteinopathies + 389
              aceruloplasminemia 3
              agenesis of the corpus callosum with peripheral neuropathy 5
              childhood-onset neurodegeneration with brain atrophy 1
              demyelinating disease + 400
              eye degenerative disease + 783
              hereditary ataxia + 596
              motor neuron disease + 494
              multiple system atrophy + 37
              myoclonic cerebellar dyssynergia + 0
              neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 2
              neurodegeneration with brain iron accumulation + 183
              neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0
              neuronal intranuclear inclusion disease 1
              olivopontocerebellar atrophy + 22
              plexopathy 0
              pontocerebellar hypoplasia + 31
              postpoliomyelitis syndrome 0
              primary cerebellar degeneration + 550
              prion disease + 98
              secondary Parkinson disease + 16
              stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
              synucleinopathy + 357
              tauopathy + 467
    Path 2
    Term Annotations click to browse term
      disease 16465
        disease of anatomical entity 14117
          nervous system disease 12341
            central nervous system disease 11056
              neurodegenerative disease 4479
                BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 1
                Childhood-Onset Neurodegeneration with Cerebellar Atrophy 1
                Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 1
                Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities 1
                FINCA Syndrome 1
                Feigenbaum Bergeron Richardson Syndrome 0
                Huntington's disease-like 2 1
                Idiopathic Basal Ganglia Calcification 1 11
                Idiopathic Basal Ganglia Calcification 6 1
                Idiopathic Basal Ganglia Calcification 7 1
                LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME 1
                NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT 1
                NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 1
                NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE 1
                NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION 1
                NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY 1
                NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA 1
                NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE 1
                Nervous System Heredodegenerative Disorders + 3073
                Nervous System Paraneoplastic Syndromes + 16
                Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 1
                PEHO syndrome 4
                Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 0
                Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
                SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS 1
                Spastic Pseudosclerosis 0
                Subacute Combined Degeneration 2
                TDP-43 Proteinopathies + 389
                aceruloplasminemia 3
                agenesis of the corpus callosum with peripheral neuropathy 5
                childhood-onset neurodegeneration with brain atrophy 1
                demyelinating disease + 400
                eye degenerative disease + 783
                hereditary ataxia + 596
                motor neuron disease + 494
                multiple system atrophy + 37
                myoclonic cerebellar dyssynergia + 0
                neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 2
                neurodegeneration with brain iron accumulation + 183
                neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0
                neuronal intranuclear inclusion disease 1
                olivopontocerebellar atrophy + 22
                plexopathy 0
                pontocerebellar hypoplasia + 31
                postpoliomyelitis syndrome 0
                primary cerebellar degeneration + 550
                prion disease + 98
                secondary Parkinson disease + 16
                stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
                synucleinopathy + 357
                tauopathy + 467
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