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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:Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
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Accession:DOID:9001346 term browser browse the term
Synonyms:exact_synonym: POIKTMP;   Poikiloderma, Hereditary Sclerosing, with Tendon and Pulmonary Involvement
 primary_id: OMIM:615704
 alt_id: RDO:9001031
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13465
    disease of anatomical entity 12944
      musculoskeletal system disease 5410
        muscular disease 1187
          Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
Path 2
Term Annotations click to browse term
  disease 13465
    disease of anatomical entity 12944
      nervous system disease 10487
        peripheral nervous system disease 2429
          neuropathy 2259
            neuromuscular disease 1785
              muscular disease 1187
                Contracture 95
                  Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
paths to the root