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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:Athetosis
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Accession:DOID:9008739 term browser browse the term
Definition:A dyskinesia characterized by an inability to maintain the fingers, toes, tongue, or other body parts in a stable position, resulting in continuous slow, sinusoidal, and flowing involuntary movements. This condition is frequently accompanied by CHOREA, where it is referred to as choreoathetosis. Athetosis may occur as a manifestation of BASAL GANGLIA DISEASES or DRUG TOXICITY. (From Adams et al., Principles of Neurology, 6th ed, p76)
Synonyms:exact_synonym: Athetoid Movement;   Athetoid Movements;   Athetoses;   Hammond Disease;   Hammond Diseases;   Hammond's Disease;   Hammond's Diseases;   Hammonds Disease
 primary_id: MESH:D001264;   RDO:0004939
For additional species annotation, visit the Alliance of Genome Resources.


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Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by OMIM:610978
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
OMIM
ClinVar
PMID:11854318 PMID:11854319 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:18788921 PMID:19176457 PMID:19336474 PMID:24555207 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29538355, PMID:23911641, PMID:23379327, PMID:18788921, PMID:26839702 RGD:12914768, RGD:12914769, RGD:11073166, RGD:12914770 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
ClinVar Annotator: match by OMIM:614559
OMIM
ClinVar
PMID:22405087 PMID:24088041 PMID:25351951 PMID:25741868 PMID:28492532 PMID:28559085 PMID:30689204 PMID:31130284 PMID:32214227 PMID:32519519 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041 PMID:25351951 PMID:25741868 PMID:28492532 PMID:30689204 PMID:31130284 PMID:32519519 NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Pathological Conditions, Signs and Symptoms 9879
      Signs and Symptoms 6340
        Neurologic Manifestations 5296
          Dyskinesias 905
            Athetosis 3
              Brain-Lung-Thyroid Syndrome 1
              Choreoathetosis, Familial Inverted 0
              Hhhh Syndrome 0
              infantile cerebellar-retinal degeneration 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            movement disease 1237
              Dyskinesias 905
                Athetosis 3
                  Brain-Lung-Thyroid Syndrome 1
                  Choreoathetosis, Familial Inverted 0
                  Hhhh Syndrome 0
                  infantile cerebellar-retinal degeneration 2
paths to the root