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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: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 and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: parkinsonism with alveolar hypoventilation and mental depression
 primary_id: MESH:C566822
 alt_id: OMIM:168605
 xref: GARD:10453;   ORDO:178509
For additional species annotation, visit the Alliance of Genome Resources.


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Perry syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by OMIM:168605
ClinVar Annotator: match by term: Perry syndrome
ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression
OMIM
ClinVar
PMID:12062019 PMID:12627231 PMID:15326253 PMID:16505168 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:18852346 PMID:19136952 PMID:19279216 PMID:19506225 PMID:20437543 PMID:22777741 PMID:23143281 PMID:24343258 PMID:24627108 PMID:25025039 PMID:25299611 PMID:25382069 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28166811 PMID:28430856 PMID:28492532 PMID:29525180 PMID:32028661, PMID:20702129, PMID:19136952 RGD:5534575, RGD:5535748 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      Perry syndrome 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            autosomal genetic disease 6276
              autosomal dominant disease 4456
                Perry syndrome 1
paths to the root