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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:A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. (DO)
Synonyms:exact_synonym: body rocking;   head banging;   stereotyped repetitive movements;   stereotypic movement disorders;   stereotypy habit disorder
 primary_id: MESH:D019956
 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 Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Stereotypic movement disorder ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28221363 PMID:29475819 More... NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:1914160 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Stereotypic movement disorder ClinVar PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:29938792 More... NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Stereotypic movement disorder ClinVar PMID:15737703 PMID:25741868 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G Mef2c myocyte enhancer factor 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20412115 NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO ClinVar Annotator: match by term: Stereotypic movement disorder ClinVar PMID:25741868 PMID:26168268 PMID:30755392 PMID:33106617 NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Stereotypic movement disorder ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Stereotypic movement disorder ClinVar PMID:25741868 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425 		JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:8736133 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637 		JBrowse link
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 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: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE OMIM
ClinVar		 PMID:7679508 PMID:9384584 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Neurodevelopmental Disorders 6224
        stereotypic movement disorder 9
          neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              developmental disorder of mental health 4927
                specific developmental disorder 4191
                  stereotypic movement disorder 9
                    neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1
paths to the root