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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:Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related
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Accession:DOID:9008357 term browser browse the term
Synonyms:xref: OMIM:PS614742
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 OMIM
ClinVar
PMID:15814878 PMID:15885610 PMID:16627250 PMID:17392301 PMID:17460043 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
OMIM
ClinVar
PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 More... NCBI chr 2:112,815,654...112,816,041 JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
ClinVar Annotator: match by OMIM:616373
OMIM
ClinVar
PMID:23329068 PMID:23453664 PMID:24009516 PMID:24033266 PMID:24582487 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 ClinVar
OMIM
PMID:9736620 PMID:16281054 PMID:25741868 PMID:25848748 PMID:26482878 More... NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zcchc8 zinc finger CCHC-type containing 8 ISO ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5 ClinVar
OMIM
PMID:25741868 PMID:31488579 NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Fibrosis 1462
          pulmonary fibrosis 224
            Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related 5
              Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 1
              Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 1
              Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 1
              Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 1
              Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      respiratory system disease 2907
        lower respiratory tract disease 1796
          lung disease 1753
            interstitial lung disease 361
              pulmonary fibrosis 224
                Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related 5
                  Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 1
paths to the root