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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:Spastic Cerebral Palsy, Quadriplegic, 1
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Accession:DOID:9007507 term browser browse the term
Synonyms:exact_synonym: CPSQ1
 primary_id: MESH:C567853
 alt_id: OMIM:603513;   RDO:0012066
For additional species annotation, visit the Alliance of Genome Resources.


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Spastic Cerebral Palsy, Quadriplegic, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by OMIM:603513
ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 1
OMIM
ClinVar
PMID:9084927 PMID:15571623 PMID:22662185 PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            Chronic Brain Damage 20
              cerebral palsy 18
                spastic cerebral palsy 6
                  spastic quadriplegia 4
                    Spastic Cerebral Palsy, Quadriplegic, 1 1
paths to the root