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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
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 19076
        disease of anatomical entity 18367
          nervous system disease 14218
            neurodegenerative disease 5001
              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 + 3347
              Nervous System Paraneoplastic Syndromes + 21
              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 + 434
              aceruloplasminemia 14
              agenesis of the corpus callosum with peripheral neuropathy 5
              childhood-onset neurodegeneration with brain atrophy 1
              demyelinating disease + 527
              eye degenerative disease + 856
              hereditary ataxia + 630
              motor neuron disease + 544
              multiple system atrophy + 41
              myoclonic cerebellar dyssynergia + 0
              neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 2
              neurodegeneration with brain iron accumulation + 188
              neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1
              neuronal intranuclear inclusion disease 1
              olivopontocerebellar atrophy + 22
              plexopathy 0
              pontocerebellar hypoplasia + 32
              postpoliomyelitis syndrome 0
              primary cerebellar degeneration + 588
              prion disease + 111
              secondary Parkinson disease + 18
              stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
              synucleinopathy + 409
              tauopathy + 511
    Path 2
    Term Annotations click to browse term
      disease 19076
        disease of anatomical entity 18367
          nervous system disease 14218
            central nervous system disease 12558
              neurodegenerative disease 5001
                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 + 3347
                Nervous System Paraneoplastic Syndromes + 21
                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 + 434
                aceruloplasminemia 14
                agenesis of the corpus callosum with peripheral neuropathy 5
                childhood-onset neurodegeneration with brain atrophy 1
                demyelinating disease + 527
                eye degenerative disease + 856
                hereditary ataxia + 630
                motor neuron disease + 544
                multiple system atrophy + 41
                myoclonic cerebellar dyssynergia + 0
                neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 2
                neurodegeneration with brain iron accumulation + 188
                neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1
                neuronal intranuclear inclusion disease 1
                olivopontocerebellar atrophy + 22
                plexopathy 0
                pontocerebellar hypoplasia + 32
                postpoliomyelitis syndrome 0
                primary cerebellar degeneration + 588
                prion disease + 111
                secondary Parkinson disease + 18
                stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
                synucleinopathy + 409
                tauopathy + 511
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