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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: MIM: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 chrNW_004955438:17,067,017...17,076,162
Ensembl chrNW_004955438:17,066,955...17,075,789 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    disease of anatomical entity 14023
      musculoskeletal system disease 7449
        muscular disease 2068
          Muscle Spasticity 120
            Childhood-Onset Spasticity with Hyperglycinemia 1
Path 2
Term Annotations click to browse term
  disease 14316
    Developmental Disease 12568
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11797
        genetic disease 11523
          inherited metabolic disorder 5513
            carbohydrate metabolic disorder 2661
              glucose metabolism disease 1474
                hyperglycemia 120
                  Childhood-Onset Spasticity with Hyperglycinemia 1
paths to the root