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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 hemiplegia
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Accession:DOID:10967 term browser browse the term
Definition:A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. (DO)
Synonyms:exact_synonym: congenital hemiplegia;   hemiplegic cerebral palsy;   hemiplegic infantile cerebral palsy;   spastic hemiplegic cerebral palsy
 xref: GARD:10448;   ICD9CM:343.1
For additional species annotation, visit the Alliance of Genome Resources.


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spastic hemiplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic hemiplegia ClinVar PMID:25741868 NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          hemiplegia 8
            spastic hemiplegia 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            Chronic Brain Damage 103
              cerebral palsy 101
                spastic cerebral palsy 44
                  spastic hemiplegia 1
paths to the root