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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 quadriplegia
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Accession:DOID:10970 term browser browse the term
Definition:A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking. (DO)
Synonyms:exact_synonym: quadriplegic infantile cerebral palsy;   spastic quadriplegic cerebral palsy;   tetraplegic infantile cerebral palsy
 xref: ICD9CM:343.2;   OMIM:PS603513;   ORDO:210141
For additional species annotation, visit the Alliance of Genome Resources.


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spastic quadriplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAD1 glutamate decarboxylase 1 IEA
IAGP
OMIM:603513 | OMIM:612900
ClinVar Annotator: match by term: Cerebral palsy spastic quadriplegic
MouseDO
ClinVar
NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 IEA OMIM:603513 | OMIM:612900 MouseDO NCBI chr 9:470,295...746,104
Ensembl chr 9:470,291...746,106
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 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES
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 chr17:82,614,562...82,648,530
Ensembl chr17:82,614,562...82,648,553
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 IAGP 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 chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166
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 IAGP ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 1 ClinVar
OMIM
PMID:9084927 PMID:15571623 PMID:22662185 PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
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 IAGP ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2
ClinVar Annotator: match by term: KANK1- Related Disorder
ClinVar
OMIM
PMID:16301218 PMID:25741868 NCBI chr 9:470,295...746,104
Ensembl chr 9:470,291...746,106
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19902
    disease of anatomical entity 18514
      nervous system disease 14514
        central nervous system disease 12753
          brain disease 11996
            Chronic Brain Damage 20
              cerebral palsy 18
                spastic cerebral palsy 6
                  spastic quadriplegia 4
                    NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES 1
                    Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures 1
                    Spastic Cerebral Palsy, Quadriplegic, 1 1
                    Spastic Cerebral Palsy, Quadriplegic, 2 1
paths to the root