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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, 2
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Accession:DOID:9001668 term browser browse the term
Definition:HGPPS2 is caused by homozygous mutation in the DCC gene on chromosome 18q21. (OMIM)
Synonyms:exact_synonym: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT;   HGPPS2
 primary_id: OMIM:617542


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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, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | 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 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        bone disease 4270
          bone structure disease 128
            scoliosis 69
              Familial Horizontal Gaze Palsy with Progressive Scoliosis 2
                Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    mitochondrial myopathy 123
                      chronic progressive external ophthalmoplegia 29
                        Familial Horizontal Gaze Palsy with Progressive Scoliosis 2
                          Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 1
paths to the root