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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 11994
    disease of anatomical entity 11557
      musculoskeletal system disease 4967
        muscular disease 1080
          Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
Path 2
Term Annotations click to browse term
  disease 11994
    disease of anatomical entity 11557
      nervous system disease 9471
        peripheral nervous system disease 2234
          neuropathy 2084
            neuromuscular disease 1638
              muscular disease 1080
                Contracture 92
                  Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
paths to the root