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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:X-linked parkinsonism-spasticity syndrome
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Accession:DOID:0112105 term browser browse the term
Definition:A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in ATP6AP2 on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: X-linked parkinsonism with spasticity;   XPDS
 primary_id: OMIM:300911
 xref: ORDO:363654
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked parkinsonism-spasticity syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by OMIM:300911 OMIM
ClinVar
PMID:20629132 PMID:23595882 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Parkinsonism with spasticity, X-linked ClinVar PMID:5448 PMID:1303173 PMID:2572288 PMID:2836867 PMID:3393536 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          movement disease 1375
            Parkinsonism 375
              X-linked parkinsonism-spasticity syndrome 2
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            X-linked monogenic disease 1021
              X-linked recessive disease 381
                X-linked parkinsonism-spasticity syndrome 2
paths to the root