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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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar		 PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More... NCBI chrNW_004936743:1,305,108...1,321,819
Ensembl chrNW_004936743:1,305,341...1,320,702 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        bone disease 3672
          bone structure disease 122
            scoliosis 68
              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 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          neuropathy 3704
            neuromuscular disease 2899
              muscular disease 2043
                muscle tissue disease 1226
                  myopathy 950
                    mitochondrial myopathy 110
                      chronic progressive external ophthalmoplegia 23
                        Familial Horizontal Gaze Palsy with Progressive Scoliosis 2
                          Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 1
paths to the root