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ONTOLOGY REPORT - ANNOTATIONS


Term:Familial Horizontal Gaze Palsy with Progressive Scoliosis
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Accession:DOID:9004787 term browser browse the term
Synonyms:exact_synonym: Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy;   Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze;   Hgpps;   Horizontal Gaze Palsy with Progressive Scoliosis
 narrow_synonym: HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS;   OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS
 primary_id: MESH:C564593
 alt_id: RDO:0013499
 xref: OMIM:PS607313
For additional species annotation, visit the Alliance of Genome Resources.


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Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:11554173
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:8554872
RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:7240710
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        bone disease 2242
          bone structure disease 81
            scoliosis 40
              Familial Horizontal Gaze Palsy with Progressive Scoliosis 2
                Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 1
                Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    mitochondrial myopathy 77
                      chronic progressive external ophthalmoplegia 19
                        Familial Horizontal Gaze Palsy with Progressive Scoliosis 2
                          Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 1
                          Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 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.