ONTOLOGY REPORT - ANNOTATIONS


Term:Ataxia-Telangiectasia-Like Disorder 2
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Accession:DOID:9002196 term browser browse the term
Definition:An autosomal recessive syndrome resulting in a neurodegenerative phenotype characterized by developmental delay, ataxia, and sensorineural hearing loss. (OMIM)
Synonyms:exact_synonym: ATLD2
 primary_id: OMIM:615919
 alt_id: RDO:9001349
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Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      Neurocutaneous Syndromes 65
        ataxia telangiectasia 22
          Ataxia Telangiectasia Like Disorder 9
            Ataxia-Telangiectasia-Like Disorder 2 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
            movement disease 1006
              Dyskinesias 718
                Ataxia 308
                  hereditary ataxia 194
                    cerebellar ataxia 178
                      autosomal recessive cerebellar ataxia 69
                        ataxia telangiectasia 22
                          Ataxia Telangiectasia Like Disorder 9
                            Ataxia-Telangiectasia-Like Disorder 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.