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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, 2
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Accession:DOID:9003517 term browser browse the term
Synonyms:exact_synonym: CPSQ2;   KANK1- RELATED DISORDER
 primary_id: MESH:C567867
 alt_id: OMIM:612900;   RDO:0012071
For additional species annotation, visit the Alliance of Genome Resources.


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Spastic Cerebral Palsy, Quadriplegic, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by OMIM:612900
ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2
OMIM
ClinVar
PMID:16301218 PMID:25741868 NCBI chr 1:243,201,073...243,398,531
Ensembl chr 1:243,276,403...243,398,536
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            Chronic Brain Damage 20
              cerebral palsy 18
                spastic cerebral palsy 6
                  spastic quadriplegia 4
                    Spastic Cerebral Palsy, Quadriplegic, 2 1
paths to the root