Disease #01516 (JPHT (polyposis, juvenile/hereditary hemorrhagic telangiectasia syndrome (JPHT)), OMIM:175050)

Official abbreviation JPHT
Name polyposis, juvenile/hereditary hemorrhagic telangiectasia syndrome (JPHT)
OMIM ID 175050
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 31
Phenotype entries for this disease 36
Associated with 1 gene SMAD4
Associated tissues -
Disease features -
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Individuals

31 entries on 1 page. Showing entries 1 - 31.
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00049945 15031030-Fam230 PubMed: Gallione 2004 - - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049946 15031030-Fam211 PubMed: Gallione 2004 3-generation family, 4 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 4 Global Variome, with Curator vacancy
00049947 15031030-Ind2616 PubMed: Gallione 2004 - - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049948 15031030-Fam236 PubMed: Gallione 2004 - - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049949 15031030-Fam25 PubMed: Gallione 2004 2-generation family, 2 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 2 Global Variome, with Curator vacancy
00049971 16613914-UP015 PubMed: Gallione 2006 - - - United States - - 0 - - JPHT see paper; telangiectases, epistaxis, AVMs lung and gastrointestinal tract, colonic polyps discoverd during endoscopy, ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049984 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049985 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049986 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049987 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049988 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049989 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049990 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049991 - PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) - - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049992 20685751-Pat PubMed: Iyer 2010 - M - United States - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049997 15031030-Fam153 PubMed: Gallione 2004 3-generation family, 3 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 3 SIB - Livia Famiglietti
00049999 15031030-Fam234 PubMed: Gallione 2004 2-generation family, 2 affected heterozygous carriers - - - - - 0 - - JPHT see paper; ... SMAD4 SMAD4 1 2 SIB - Livia Famiglietti
00218773 YF1 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218807 3760 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218808 4138 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218812 4116 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218816 4289 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218825 4323 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00218860 4291 PubMed: Gallione 2010, Journal: Gallione 2010 - - - (United States) (American) - 0 - - JPHT JP-HHT SMAD4 SMAD4 1 1 Karl Heinimann
00264253 patient Journal: Karnsakul 2017 - F - (United States) (american) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264254 patient Journal: Brusgaard 2017 - - - (Denmark) (european) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264255 daughter Journal: Brusgaard 2017 - F - (Denmark) (european) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264265 Patient 1 PubMed: Szigeti 2012 - F - (United States) (american) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264266 Patient 2 PubMed: Szigeti 2012 - M - (United States) (american) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264267 Patient 1 Journal: Teekakirikul 2012 - M - (United States) (caucasian) - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
00264268 Patient 2 Journal: Teekakirikul 2012 - F - (United States) caucasian - 0 - - JPHT - SMAD4 SMAD4 1 1 Benjamin Tschupp
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