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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:Segawa Syndrome, Autosomal Recessive
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Accession:DOID:9004035 term browser browse the term
Synonyms:exact_synonym: Autosomal Recessive Infantile Parkinsonism;   Dopa-Responsive Dystonia, Autosomal Recessive;   Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive;   Th-Deficient Drd;   Tyrosine Hydroxylase Deficiency
 primary_id: MESH:C537537
 alt_id: OMIM:605407;   RDO:0003396
 xref: NCI:C157158
For additional species annotation, visit the Alliance of Genome Resources.


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Segawa Syndrome, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603
JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,035,522...197,088,624
Ensembl chr 1:197,035,633...197,088,092
JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753
JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,594,357...196,629,700
Ensembl chr 1:196,587,509...196,629,606
JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,558,407...196,563,961
Ensembl chr 1:196,558,588...196,563,771
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,167,392...197,184,285
Ensembl chr 1:197,169,422...197,182,921
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,446,067...196,471,542
Ensembl chr 1:196,446,287...196,471,541
JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by synonym: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
ClinVar PMID:1530300 PMID:8852666 PMID:9667588 PMID:10984668 PMID:10987649 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,507,501...197,524,180
Ensembl chr 1:197,507,503...197,525,151
JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency
ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia
ClinVar PMID:12610512 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency
ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia
ClinVar PMID:12610512 PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,278,886...197,279,893 JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,614,585...197,648,414
Ensembl chr 1:197,614,687...197,648,416
JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,092,991...197,149,978
Ensembl chr 1:197,092,994...197,149,933
JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,687,452...197,695,222
Ensembl chr 1:197,687,347...197,695,222
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,796,257...196,831,740 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,570,051...196,572,060 JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,382,941...196,383,635
Ensembl chr 1:196,382,856...196,383,658
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,588,126...197,593,598
Ensembl chr 1:197,590,149...197,593,504
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia
ClinVar Annotator: match by term: Segawa syndrome, autosomal recessive
ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency
ClinVar Annotator: match by OMIM:605407
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2019643 PMID:7814018 PMID:7910484 PMID:7964718 PMID:8528210 More... NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,435,375...196,444,368 JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia ClinVar PMID:28492532 NCBI chr 1:196,571,307...196,593,842
Ensembl chr 1:196,572,228...196,617,448
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        Neurologic Manifestations 5444
          Dyskinesias 1043
            dystonia 187
              Segawa Syndrome, Autosomal Recessive 41
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            movement disease 1375
              Dyskinesias 1043
                dystonia 187
                  Segawa Syndrome, Autosomal Recessive 41
paths to the root