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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:congenital mirror movement disorder
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Accession:DOID:0111153 term browser browse the term
Definition:A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. (DO)
Synonyms:exact_synonym: familial congenital controlateral synkinesia;   familial congenital mirror movements;   hereditary congenital controlateral synkinesia;   hereditary congenital mirror movements;   isolated congenital controlateral synkinesia;   isolated congenital mirror movements
 xref: OMIM:PS157600;   ORDO:238722
For additional species annotation, visit the Alliance of Genome Resources.


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Mirror Movements 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Mirror movements 1
ClinVar Annotator: match by term: Mirror movements, congenital
ClinVar Annotator: match by term: Developmental Split Brain Syndrome
ClinVar Annotator: match by OMIM:157600
OMIM
ClinVar
PMID:19127048 PMID:20431009 PMID:21681106 PMID:24808016 PMID:25741868 PMID:28250454 PMID:28250456 PMID:28492532 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
Mirror Movements 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by OMIM:614508
ClinVar Annotator: match by term: Mirror movements 2
ClinVar
OMIM
PMID:10807537 PMID:21242494 PMID:22305526 PMID:24808016 PMID:25813273 PMID:27830107 PMID:28492532 NCBI chr 3:110,918,240...110,942,920
Ensembl chr 3:110,918,243...110,942,917
JBrowse link
Mirror Movements 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnal4 dynein, axonemal, light chain 4 ISO ClinVar Annotator: match by term: Mirror movements 3 OMIM
ClinVar
PMID:25098561 NCBI chr 7:120,987,438...121,000,272
Ensembl chr 7:120,987,452...121,000,272
JBrowse link
Mirror Movements 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: MIRROR MOVEMENTS 4 ClinVar
OMIM
PMID:28945198 NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    physical disorder 2958
      congenital mirror movement disorder 4
        Mirror Movements 1 1
        Mirror Movements 2 1
        Mirror Movements 3 1
        Mirror Movements 4 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            movement disease 1237
              congenital mirror movement disorder 4
                Mirror Movements 1 1
                Mirror Movements 2 1
                Mirror Movements 3 1
                Mirror Movements 4 1
paths to the root