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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:Ataxia-Oculomotor Apraxia 4
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Accession:DOID:9004565 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. (OMIM)
Synonyms:exact_synonym: AOA4
 primary_id: OMIM:616267;   RDO:9001348
For additional species annotation, visit the Alliance of Genome Resources.


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Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:27066567, PMID:27165045, PMID:27232581, PMID:28492532, PMID:30039206, PMID:31061747 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Neurocutaneous Syndromes 151
        ataxia telangiectasia 17
          Ataxia-Oculomotor Apraxia 4 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                Ataxia 395
                  Spinocerebellar Ataxias 284
                    cerebellar ataxia 248
                      autosomal recessive cerebellar ataxia 70
                        ataxia telangiectasia 17
                          Ataxia-Oculomotor Apraxia 4 1
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.