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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 with oculomotor apraxia type 1
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Accession:DOID:0050754 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. (DO)
Synonyms:exact_synonym: AOA;   AOA1;   Ataxia-telangiectasia-like syndrome;   EAOH;   Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia;   Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia;   adult-onset ataxia with oculomotor apraxia;   ataxia-oculomotor apraxia 1;   ataxia-oculomotor apraxia syndrome
 narrow_synonym: CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA;   EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
 primary_id: MESH:C538013
 alt_id: OMIM:208920
 xref: GARD:9283
For additional species annotation, visit the Alliance of Genome Resources.



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ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
DNA:missense mutation:cds:p.V320G(human)
DNA:mutations:multiple:
OMIM
ClinVar
RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:1599207, RGD:10054300, RGD:10054301 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Neurodevelopmental Disorders 6187
        communication disorder 297
          agnosia 49
            apraxia 35
              ataxia with oculomotor apraxia type 1 3
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            disease of mental health 7533
              developmental disorder of mental health 4894
                specific developmental disorder 4154
                  communication disorder 297
                    agnosia 49
                      apraxia 35
                        ataxia with oculomotor apraxia type 1 3
paths to the root