ONTOLOGY REPORT - ANNOTATIONS


Term:Perry syndrome
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Accession:DOID:0060486 term browser browse the term
Definition:A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; that has material basis in heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. (DO)
Synonyms:exact_synonym: parkinsonism with alveolar hypoventilation and mental depression
 primary_id: MESH:C566822
 alt_id: OMIM:168605;   RDO:0015063
 xref: GARD:10453;   ORDO:178509
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Perry syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:5534575
RGD:5535748
RGD:7240710
RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      Perry syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            basal ganglia disease 527
              Parkinsonian Disorders 310
                Perry syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.