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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 ISO OMIM NCBI chr11:54,324,217...54,344,439
Ensembl chr11:57,779,138...57,795,819
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12807
    disease of anatomical entity 12337
      musculoskeletal system disease 5186
        muscular disease 1104
          Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 1
Path 2
Term Annotations click to browse term
  disease 12807
    disease of anatomical entity 12337
      nervous system disease 10078
        peripheral nervous system disease 2296
          neuropathy 2138
            neuromuscular disease 1683
              muscular disease 1104
                Contracture 94
                  Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 1
paths to the root