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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 deleted in colorectal carcinoma 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 chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      musculoskeletal system disease 7928
        bone disease 3899
          bone structure disease 129
            scoliosis 70
              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 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        peripheral nervous system disease 4111
          neuropathy 3911
            neuromuscular disease 3075
              muscular disease 2167
                muscle tissue disease 1313
                  myopathy 1029
                    mitochondrial myopathy 145
                      chronic progressive external ophthalmoplegia 39
                        Familial Horizontal Gaze Palsy with Progressive Scoliosis 2
                          Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 1
paths to the root