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ONTOLOGY REPORT - ANNOTATIONS


Term:Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1
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Accession:DOID:9004843 term browser browse the term
Definition:HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal. Familial horizontal gaze palsy with progressive scoliosis-1 (HGPPS1) is caused by homozygous or compound heterozygous mutation in the ROBO3 gene on chromosome 11q24. (OMIM)
Synonyms:exact_synonym: HGPPS1
 primary_id: OMIM:607313
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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

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Path 1
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        bone disease 2238
          bone structure disease 81
            scoliosis 40
              Familial Horizontal Gaze Palsy with Progressive Scoliosis 2
                Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            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
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.