Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 diplegia
go back to main search page
Accession:DOID:10965 term browser browse the term
Definition:A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. (DO)
Synonyms:exact_synonym: Little's disease;   Littles disease;   cerebral spastic infantile paralysis;   infantile diplegic cerebral palsy;   infantile spastic cerebral palsy;   spastic diplegias;   spastic diplegic cerebral palsy
 primary_id: RDO:9003338
 xref: ICD10CM:G80.1;   ICD9CM:343.0;   NCI:C34781
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spastic diplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Spastic diplegia ClinVar NCBI chr  X:75,433,957...75,566,531
Ensembl chr  X:75,439,778...75,566,481
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            Chronic Brain Damage 20
              cerebral palsy 18
                spastic cerebral palsy 6
                  spastic diplegia 2
                    Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 0
paths to the root