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
Accession: DOID:0050669
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 .
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
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
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
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
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
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
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
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