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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 7:116,787,346...116,797,477
Ensembl chr 7:116,787,432...116,800,554
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14866
      musculoskeletal system disease 7647
        muscular disease 2079
          Muscle Spasticity 118
            Childhood-Onset Spasticity with Hyperglycinemia 1
Path 2
Term Annotations click to browse term
  disease 17416
    Developmental Disease 17262
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17176
        genetic disease 17157
          inherited metabolic disorder 5430
            carbohydrate metabolic disorder 2677
              glucose metabolism disease 1507
                hyperglycemia 125
                  Childhood-Onset Spasticity with Hyperglycinemia 1
paths to the root