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Childhood-Onset Spasticity with Hyperglycinemia - Ontology Report - Rat Genome Database

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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
 broad_synonym: GLRX5-RELATED CONDITION
 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: GLRX5-related condition | 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 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        muscular disease 2233
          Muscle Spasticity 124
            Childhood-Onset Spasticity with Hyperglycinemia 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6628
            carbohydrate metabolic disorder 3419
              glucose metabolism disease 2164
                hyperglycemia 206
                  Childhood-Onset Spasticity with Hyperglycinemia 1
paths to the root