ONTOLOGY REPORT - ANNOTATIONS


Term:ataxia with oculomotor apraxia type 1
go back to main search page
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, Adult-Onset, With Oculomotor Apraxia;   Ataxia-oculomotor apraxia 1;   Ataxia-oculomotor apraxia syndrome;   Ataxia-telangiectasia-like syndrome;   EAOH;   Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia;   Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia
 narrow_synonym: CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA;   EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
 primary_id: MESH:C538013
 alt_id: OMIM:208920;   RDO:0003945
 xref: GARD:9283
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:7240710
RGD:8554872
RGD:1599207
RGD:10054300
RGD:10054301

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        neurodegenerative disease 2536
          hereditary ataxia 194
            cerebellar ataxia 178
              ataxia with oculomotor apraxia type 1 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            disease of mental health 4346
              developmental disorder of mental health 2600
                specific developmental disorder 1765
                  communication disorder 216
                    agnosia 20
                      apraxia 15
                        ataxia with oculomotor apraxia type 1 1
paths to the root

NHLBI Logo

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