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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 the ATP6AP2 gene on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: X-linked parkinsonism with spasticity;   XPDS
 primary_id: OMIM:300911
 xref: ORDO:363654


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parkinsonism with spasticity, X-linked | ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome		 OMIM
CTD
ClinVar		 PMID:20629132 PMID:23595882 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          movement disease 2576
            Parkinsonism 452
              X-linked parkinsonism-spasticity syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            X-linked monogenic disease 1363
              X-linked recessive disease 581
                X-linked parkinsonism-spasticity syndrome 1
paths to the root