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spastic quadriplegic cerebral palsy 3 - 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:spastic quadriplegic cerebral palsy 3
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Accession:DOID:0081361 term browser browse the term
Definition:A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: ADD3-RELATED CONDITION;   CPSQ3
 primary_id: MIM:617008

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spastic quadriplegic cerebral palsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Add3 adducin 3 ISO ClinVar Annotator: match by term: ADD3-related condition | ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chrNW_004624737:36,091,671...36,256,398 JBrowse link
G G ADD3 adducin 3 ISO ClinVar Annotator: match by term: ADD3-related condition | ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chr 9:102,930,270...103,056,558
Ensembl chr 9:103,010,713...103,057,101 		JBrowse link
G P ADD3 adducin 3 ISO ClinVar Annotator: match by term: ADD3-related condition | ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chr14:120,451,421...120,583,725
Ensembl chr14:120,451,575...120,583,722 		JBrowse link
G S Add3 adducin 3 ISO ClinVar Annotator: match by term: ADD3-related condition | ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chrNW_004936486:928,956...1,042,168
Ensembl chrNW_004936486:928,522...1,043,084 		JBrowse link
G D ADD3 adducin 3 ISO ClinVar Annotator: match by term: ADD3-related condition | ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chr28:21,402,068...21,527,006
Ensembl chr28:21,403,680...21,525,063 		JBrowse link
G B ADD3 adducin 3 ISO ClinVar Annotator: match by term: ADD3-related condition | ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chr10:106,597,693...106,727,494
Ensembl chr10:110,123,270...110,178,671 		JBrowse link
G C Add3 adducin 3 ISO ClinVar Annotator: match by term: ADD3-related condition | ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chrNW_004955485:1,216,435...1,273,275
Ensembl chrNW_004955485:1,216,435...1,353,953 		JBrowse link
G R Add3 adducin 3 ISO ClinVar Annotator: match by term: ADD3-related condition | ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chr 1:262,152,722...262,260,504
Ensembl chr 1:252,147,386...252,255,124 		JBrowse link
G M Add3 adducin 3 ISO ClinVar Annotator: match by term: ADD3-related condition | ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chr19:53,128,874...53,235,518
Ensembl chr19:53,128,874...53,235,830 		JBrowse link
G H ADD3 adducin 3 IAGP ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3
ClinVar Annotator: match by term: ADD3-related condition		 ClinVar
OMIM		 PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 More... NCBI chr10:109,996,373...110,135,565
Ensembl chr10:109,996,368...110,135,565 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal recessive disease 73856
                spastic quadriplegic cerebral palsy 3 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            Chronic Brain Damage 1091
              cerebral palsy 1071
                spastic cerebral palsy 484
                  spastic quadriplegic cerebral palsy 443
                    spastic quadriplegic cerebral palsy 3 10
paths to the root