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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 term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1- Related Disorder OMIM
ClinVar
PMID:16301218 PMID:25741868 NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17941
    disease of anatomical entity 17296
      nervous system disease 12917
        central nervous system disease 11044
          brain disease 10315
            Chronic Brain Damage 70
              cerebral palsy 68
                spastic cerebral palsy 15
                  spastic quadriplegia 13
                    Spastic Cerebral Palsy, Quadriplegic, 2 1
paths to the root