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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 Syndrome, Telomere-Related
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Accession:DOID:9008357 term browser browse the term
Synonyms:exact_synonym: Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related
 xref: OMIM:PS614742


show annotations for term's descendants           Sort by:
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, 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 SYNDROME, TELOMERE-RELATED, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16332973 More... NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Terc telomerase RNA component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2		 OMIM
CTD
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 Syndrome, Telomere-Related, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617 		JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788 		JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036 		JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19822871 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915 		JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, 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 SYNDROME, TELOMERE-RELATED, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9736620 PMID:16199547 PMID:16281054 PMID:22834816 PMID:25741868 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 Syndrome, 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31488579 NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpa1 replication protein A1 ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | ClinVar Annotator: match by term: RPA1-related short telomere syndrome OMIM
ClinVar		 PMID:25741868 PMID:34767620 NCBI chr10:60,148,869...60,199,970
Ensembl chr10:60,148,793...60,199,949 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naf1 nuclear assembly factor 1 ribonucleoprotein ISO ClinVar Annotator: match by term: NAF1-related condition | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 OMIM
ClinVar		 PMID:25741868 PMID:27510903 PMID:28492532 NCBI chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 ClinVar
OMIM		 PMID:35420632 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 OMIM
ClinVar		 PMID:32139460 NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        Fibrosis 1604
          pulmonary fibrosis 258
            Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related 18
              Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 1
              Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2 1
              Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 10
              Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 1
              Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 1
              Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 1
              Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 1
              Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 1
              Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      respiratory system disease 3609
        lower respiratory tract disease 2296
          lung disease 2259
            interstitial lung disease 503
              pulmonary fibrosis 258
                Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related 18
                  Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 10
                  Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 1
                  Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9 1
paths to the root