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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 PMID:18042801 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20022961 PMID:20858879 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21520173 PMID:21635204 PMID:22364217 PMID:22424236 PMID:22476886 PMID:22512499 PMID:22853774 PMID:23538340 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25365545 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26365799 PMID:28102861 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:29483670 PMID:30426156 PMID:31265491 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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 PMID:15098033 PMID:15319288 PMID:17392301 PMID:17640862 PMID:18753630 PMID:19760749 PMID:20022961 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:24763404 PMID:25612863 PMID:25741868 PMID:26024875 PMID:28492532 PMID:29146883 PMID:29483670 PMID:30426156 PMID:31265491 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
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:23453664 PMID:24009516 PMID:24033266 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26025130 PMID:28492532 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
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:25741868 PMID:25848748 PMID:26810774 PMID:28099038 PMID:28492532 NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269
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 chr12:38,303,665...38,327,174
Ensembl chr12:38,303,624...38,326,502
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Pathological Conditions, Signs and Symptoms 8822
      Pathologic Processes 6194
        Fibrosis 1424
          pulmonary fibrosis 220
            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 16085
    disease of anatomical entity 15340
      respiratory system disease 2761
        lower respiratory tract disease 1693
          lung disease 1652
            interstitial lung disease 352
              pulmonary fibrosis 220
                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