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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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Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111B FAM111 trypsin like peptidase B IAGP ClinVar Annotator: match by term: Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis ClinVar
OMIM
PMID:17034542 PMID:24268661 PMID:25741868 PMID:26471370 PMID:26495788 NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18950
    disease of anatomical entity 17431
      musculoskeletal system disease 6136
        muscular disease 1271
          Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 1
Path 2
Term Annotations click to browse term
  disease 18950
    disease of anatomical entity 17431
      nervous system disease 13499
        peripheral nervous system disease 2626
          neuropathy 2441
            neuromuscular disease 1934
              muscular disease 1271
                Contracture 107
                  Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 1
paths to the root