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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: MIM:168605
 xref: GARD:10453;   ORDO:178509


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      Perry syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          monogenic disease 10820
            autosomal genetic disease 10300
              autosomal dominant disease 6645
                Perry syndrome 1
paths to the root