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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.


show annotations for term's descendants           Sort by:
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:28135719 PMID:28221363 More... NCBI chr 3:177,310,258...177,340,379
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 2:104,059,184...104,061,048
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:102,074,175...102,080,115
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 PMID:34837432 NCBI chr  X:156,932,481...156,995,981
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 2:15,708,732...15,871,639
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Stereotypic movement disorder ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 More... NCBI chr10:12,288,514...12,303,337
Ensembl chr10:11,787,422...11,796,973 		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:28492532 PMID:30755392 PMID:32901917 More... NCBI chr 1:69,213,198...69,232,441
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 3:144,494,579...144,576,449
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 chr18:65,216,840...65,563,186
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 4:126,299,236...126,301,762
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: MEF2C-related disorder | ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE OMIM
ClinVar		 PMID:7679508 PMID:9536098 PMID:10715212 PMID:16199547 PMID:17576681 More... NCBI chr 2:15,708,732...15,871,639
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 19139
    Developmental Disease 14674
      Neurodevelopmental Disorders 6971
        stereotypic movement disorder 10
          neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            disease of mental health 8462
              developmental disorder of mental health 5653
                specific developmental disorder 4621
                  stereotypic movement disorder 10
                    neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1
paths to the root