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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:Childhood-Onset Spasticity with Hyperglycinemia
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Accession:DOID:9001337 term browser browse the term
Definition:An autosomal recessive disorder characterized by 'variant' nonketotic hyperglycinemia and onset of slowly progressive spasticity that results in impaired gait in the first decade of life. (OMIM)
Synonyms:exact_synonym: SPAHGC
 primary_id: OMIM:616859


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Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia OMIM
ClinVar		 PMID:24334290 PMID:25741868 PMID:28492532 NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545 		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
        muscular disease 2142
          Muscle Spasticity 122
            Childhood-Onset Spasticity with Hyperglycinemia 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            carbohydrate metabolic disorder 3267
              glucose metabolism disease 2071
                hyperglycemia 204
                  Childhood-Onset Spasticity with Hyperglycinemia 1
paths to the root