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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:stereotypic movement disorder
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Accession:DOID:2303 term browser browse the term
Definition:Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (DSM-IV, 1994)
Synonyms:exact_synonym: Head Banging;   body rocking;   stereotyped repetitive movements;   stereotypic movement disorders;   stereotypy habit disorder
 primary_id: MESH:D019956
 alt_id: RDO:0007299
 xref: ICD10CM:F98.4;   ICD9CM:307.3
For additional species annotation, visit the Alliance of Genome Resources.


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stereotypic movement disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:1914160 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20412115 NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:8736133 NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
JBrowse link
autosomal dominant mental retardation 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
ClinVar Annotator: match by OMIM:613443
OMIM
ClinVar
PMID:7679508 PMID:18414213 PMID:19592390 PMID:19876902 PMID:20333642 PMID:20513142 PMID:22031302 PMID:23001426 PMID:24088041 PMID:25741868 PMID:25741869 PMID:26633545 PMID:27255693 PMID:27748065 PMID:28492532 PMID:28554332 PMID:29706646 PMID:30376817 NCBI chr 2:11,658,534...11,822,788
Ensembl chr 2:11,658,568...11,822,787
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        stereotypic movement disorder 3
          autosomal dominant mental retardation 20 1
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
            disease of mental health 6921
              developmental disorder of mental health 4267
                specific developmental disorder 3531
                  stereotypic movement disorder 3
                    autosomal dominant mental retardation 20 1
paths to the root