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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
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Accession:DOID:0050669 term browser browse the term
Definition:A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. (DO)
Synonyms:exact_synonym: spastic cerebral palsies
 primary_id: RDO:9003334
For additional species annotation, visit the Alliance of Genome Resources.

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Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr45b WD repeat domain 45B ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES ClinVar
OMIM		 PMID:25741868 PMID:27431290 PMID:28503735 NCBI chr10:110,523,843...110,555,769
Ensembl chr10:110,525,749...110,555,761 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES ClinVar
OMIM		 PMID:30464055 NCBI chr14:10,854,713...10,909,579
Ensembl chr14:10,854,682...10,909,612 		JBrowse link
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 term: Cerebral palsy, spastic quadriplegic, 1
ClinVar Annotator: match by OMIM:603513		 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 		JBrowse link
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 OMIM:612900		 OMIM
ClinVar		 PMID:16301218 PMID:25741868 NCBI chr 1:243,201,073...243,398,531
Ensembl chr 1:243,276,403...243,398,536 		JBrowse link
spastic diplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spast spastin ISO ClinVar Annotator: match by term: Spastic diplegia ClinVar PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 PMID:20718791 PMID:20932283 PMID:22960362 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886 		JBrowse link
spastic quadriplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gad1 glutamate decarboxylase 1 ISS
ISO		 OMIM:603513 | OMIM:612900
ClinVar Annotator: match by term: Cerebral palsy spastic quadriplegic		 MouseDO
ClinVar		 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISS OMIM:603513 | OMIM:612900 MouseDO NCBI chr 1:243,201,073...243,398,531
Ensembl chr 1:243,276,403...243,398,536 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            Chronic Brain Damage 17
              cerebral palsy 15
                spastic cerebral palsy 5
                  spastic diplegia + 1
                  spastic hemiplegia 0
                  spastic monoplegia 0
                  spastic quadriplegia + 4
paths to the root