ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive Parkinson's disease 14
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Accession:DOID:0060900 term browser browse the term
Definition:A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. (DO)
Synonyms:exact_synonym: DYSTONIA-PARKINSONISM, ADULT-ONSET;   PARK14;   autosomal recessive Parkinson disease 14
 primary_id: MESH:C567844
 alt_id: OMIM:612953;   RDO:0009732;   RDO:0012061
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autosomal recessive Parkinson's disease 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:8554872

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Path 1
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  disease 14823
    Pathological Conditions, Signs and Symptoms 7275
      Signs and Symptoms 4084
        Neurologic Manifestations 2987
          Dyskinesias 711
            dystonia 78
              autosomal recessive Parkinson's disease 14 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            basal ganglia disease 527
              Parkinsonian Disorders 310
                Parkinson's disease 235
                  late onset Parkinson's disease 23
                    autosomal recessive Parkinson's disease 14 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.