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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 ISO ClinVar Annotator: match by term: Cerebral palsy spastic quadriplegic ClinVar NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,817
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 OMIM NCBI chr12:522,762...547,333
Ensembl chr12:492,594...549,158
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 OMIM NCBI chr 8:135,431,965...135,495,124
Ensembl chr 8:135,420,884...135,495,121
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 OMIM NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,817
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 OMIM NCBI chr 1:221,015,042...221,218,875
Ensembl chr 1:221,015,046...221,218,575
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13436
    disease of anatomical entity 13100
      nervous system disease 10833
        central nervous system disease 9494
          brain disease 8915
            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