Disease #03718

Official abbreviation PFBMFT-1
Name fibrosis, pulmonary, and/or bone marrow failure, telomere-related, type 1 (PFBMFT-1)
OMIM ID 614742
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 28
Phenotype entries for this disease 28
Associated with 1 gene TERT
Associated tissues -
Disease features -
Remarks -


Individuals

28 entries on 1 page. Showing entries 1 - 28.
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00105132 17460043-? PubMed: Tsakiri 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis and fibrosis TERT TERT 1 1 Johan den Dunnen
00105133 17392301-? PubMed: Armanios 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105137 17392301-? PubMed: Armanios 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105138 17392301-? PubMed: Armanios 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105139 17460043-? PubMed: Tsakiri 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105140 21436073-? PubMed: Parry 2011 - - - - - - 0 - - PFBMFT-1 aplastic anemia and pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105148 19936245-? PubMed: Calado 2009.2 - - - - - - 0 - - PFBMFT-1 pancytopenia, aplastic anemia, pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105153 17460043-? PubMed: Tsakiri 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105158 20502709-? PubMed: Diaz de Leon 2010 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105159 20502709-? PubMed: Diaz de Leon 2010 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105160 22942352-? PubMed: Chambers 2012 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105163 18635888-? PubMed: Cronkhite 2008 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105172 17460043-? PubMed: Tsakiri 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105175 21436073-? PubMed: Parry 2011 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105178 17392301-? PubMed: Armanios 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105179 17460043-? PubMed: Tsakiri 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105180 17460043-? PubMed: Tsakiri 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis, fibrosis, and aplastic anemia TERT TERT 1 1 Johan den Dunnen
00105181 20502709-? PubMed: Diaz de Leon 2010 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105187 22512499-? PubMed: Gansner 2012 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105188 20502709-? PubMed: Diaz de Leon 2010 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105189 20502709-? PubMed: Diaz de Leon 2010 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105190 18635888-? PubMed: Cronkhite 2008 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105195 18635888-? PubMed: Cronkhite 2008 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105198 18635888-? PubMed: Cronkhite 2008 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105202 20502709-? PubMed: Diaz de Leon 2010 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105203 20966039-? PubMed: El-Chemaly 2011 - - - - - - 0 - - PFBMFT-1 pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105205 17392301-? PubMed: Armanios 2007 - - - - - - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis TERT TERT 1 1 Johan den Dunnen
00105206 17460043-Fam8PatII3 PubMed: Tsakiri 2007 2-generation family, affected father and 3 sons M no United States Hispanic - 0 - - PFBMFT-1 idiopathic pulmonary fibrosis, fibrosis, and aplastic anemia TERT TERT 1 4 Johan den Dunnen
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