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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
For additional species annotation, visit the Alliance of Genome Resources.



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Halperin-Birk Syndrome 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 Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
ClinVar
OMIM
PMID:25741868 PMID:30464055 NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273
JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive
ClinVar Annotator: match by OMIM:614066
OMIM
ClinVar
PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 More... NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
JBrowse link
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956
JBrowse link
hereditary spastic paraplegia 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar
PMID:23836506 PMID:25741868 NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 50, autosomal recessive
ClinVar Annotator: match by OMIM:612936
OMIM
ClinVar
PMID:18414213 PMID:19559397 PMID:21937992 PMID:24700674 PMID:25326635 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4
ClinVar Annotator: match by OMIM:613744
OMIM
ClinVar
PMID:20972249 PMID:21937992 PMID:23472171 PMID:25741868 PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4 ClinVar PMID:20972249 NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:23167973 More... NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
JBrowse link
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 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 PMID:9084927 PMID:15571623 PMID:22662185 PMID:25741868 PMID:28492532 More... NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
OMIM
ClinVar
PMID:9084927 PMID:9973289 PMID:25741868 PMID:32707086 PMID:33188300 More... NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
JBrowse link
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 OMIM
ClinVar
PMID:25741868 PMID:27431290 NCBI chr10:106,597,558...106,629,488
Ensembl chr10:106,599,364...106,629,441
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 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
JBrowse link
spastic diplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Spastic diplegia ClinVar NCBI chr  X:69,568,086...69,701,756
Ensembl chr  X:69,574,124...69,701,756
JBrowse link
spastic quadriplegia 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 ClinVar NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISS OMIM:603513 | OMIM:612900 MouseDO NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            Chronic Brain Damage 26
              cerebral palsy 24
                spastic cerebral palsy 14
                  spastic diplegia + 1
                  spastic hemiplegia 0
                  spastic monoplegia 0
                  spastic quadriplegia + 13
paths to the root