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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: MIM:208920
 xref: GARD:9283


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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 DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
DNA:missense mutation:cds:p.V320G(human)
DNA:mutations:multiple:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		 OMIM
CTD
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: Early-onset cerebellar ataxia with hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... 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 19100
    Developmental Disease 14598
      Neurodevelopmental Disorders 6946
        communication disorder 416
          agnosia 74
            apraxia 34
              ataxia with oculomotor apraxia type 1 3
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  communication disorder 416
                    agnosia 74
                      apraxia 34
                        ataxia with oculomotor apraxia type 1 3
paths to the root