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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.


show annotations for term's descendants           Sort by:
 
Segawa Syndrome, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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, PMID:12391354, PMID:12552057, PMID:15303002, PMID:15753436, PMID:16917893, PMID:17044972, PMID:17898029, PMID:18044725, PMID:19332422, PMID:23430498, PMID:24993959, PMID:25497597, PMID:25741868, PMID:26467025, PMID:27313105, PMID:28492532, PMID:30314816 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Tyrosine Hydroxylase Deficiency ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Th tyrosine hydroxylase ISO 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, PMID:8817341, PMID:9235905, PMID:9703425, PMID:9732974, PMID:10407773, PMID:10585338, PMID:11160968, PMID:11246459, PMID:11281275, PMID:12610512, PMID:12891655, PMID:15468323, PMID:15505183, PMID:15747353, PMID:16643317, PMID:17696123, PMID:17698383, PMID:17698732, PMID:18554280, PMID:19120120, PMID:19282209, PMID:20056467, PMID:20198643, PMID:20399390, PMID:20430833, PMID:20492352, PMID:20823027, PMID:21937992, PMID:22264700, PMID:22583432, PMID:22815559, PMID:23480488, PMID:23939262, PMID:24033266, PMID:24696406, PMID:24753243, PMID:25224241, PMID:25741868, PMID:25758715, PMID:25910213, PMID:26276013, PMID:26467025, PMID:27165006, PMID:27185167, PMID:27934587, PMID:28087438, PMID:28186668, PMID:28492532, PMID:29225908, PMID:30311386 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        Neurologic Manifestations 4140
          Dyskinesias 867
            dystonia 161
              Segawa Syndrome, Autosomal Recessive 4
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            movement disease 1156
              Dyskinesias 867
                dystonia 161
                  Segawa Syndrome, Autosomal Recessive 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.