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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
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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
 xref: OMIM:PS607313
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		JBrowse link
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 chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar		 PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      musculoskeletal system disease 8297
        bone disease 4262
          bone structure disease 122
            scoliosis 64
              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 20988
    disease of anatomical entity 18178
      nervous system disease 14109
        peripheral nervous system disease 4076
          neuropathy 3860
            neuromuscular disease 3065
              muscular disease 2115
                muscle tissue disease 1279
                  myopathy 1001
                    mitochondrial myopathy 131
                      chronic progressive external ophthalmoplegia 27
                        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