ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant Parkinson's disease 1
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Accession:DOID:0060367 term browser browse the term
Definition:A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1. (DO)
Synonyms:exact_synonym: Lewy Body Parkinsonism;   PARK1;   PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;   PARKINSON'S DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY;   Parkinson Disease, Familial, Type 1;   atypical Parkinson disease;   atypical Parkinson's disease;   autosomal dominant Parkinson disease;   autosomal dominant Parkinson disease 1;   autosomal dominant Parkinson's disease;   familial Parkinson's disease, type 1
 primary_id: MESH:C566823
 alt_id: OMIM:168601;   RDO:0008113;   RDO:0012001
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autosomal dominant Parkinson's disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                autosomal dominant Parkinson's disease 1 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            movement disease 993
              Parkinsonian Disorders 310
                Parkinson's disease 235
                  late onset Parkinson's disease 24
                    autosomal dominant Parkinson's disease 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.