Disease #00004

Official abbreviation FAP-1
Name adenomatous polyposis, familial, type 1 (FAP-1, Gardner syndrome)
OMIM ID 175100
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 4403
Phenotype entries for this disease 4402
Associated with 1 gene APC
Associated tissues -
Disease features -
Remarks -


Individuals

4403 entries on 45 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00003655 - M Italy Caucasian - - Family members negative for attenuated FAP related tumors Daughter performed pancolonscopy, resulted negative Patient positive for attenuated FAP FAP-1 Pancolonscopy performed in 2007, 20014, 2015, detecting over 10 polyps (about 20) APC, MUTYH APC 1 1 Giulia Martina Cavestro, M.D., Ph.D.
00003667 - F India Asian - - - - CRC, FAP-1, polyposis - APC APC 1 1 Rajiv Sarin
00003668 - F India Asian - - history of polyposis, CRC and extracolonic manifestations in multiple members of family over three generations - CRC, FAP-1, polyposis - APC APC 1 1 Rajiv Sarin
00023524 Marafie MJ 2009 M KW Arab Brother of patient 1.05;InSiGHT LOVDv2 ID:1012846; Yes AII+ Call (screening) FAP-1 tubular adenoma with low grade dysplasia MSH2 MSH2 1 1 Makia Marafie
00025034 - F ES Caucasian InSiGHT LOVDv2 ID:1010413; No - - FAP-1 - MSH2 MSH2 1 1 Javier Garcia-Planells
00029100 - M Germany - - No - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029101 German HNPCC Consortium - Munich - Germany - - No - - FAP-1 no additional phenotype data available APC APC 1 1 Elke Holinski-Feder
00029102 German HNPCC Consortium - Munich - Germany - - Yes - - FAP-1 additional phenotype data available; polyps Cecum APC APC 1 1 Elke Holinski-Feder
00029103 Switzerland, Basel, Human Genetics, Department of Research, University Clinics - Switzerland - - No - - FAP-1 no additional phenotype data available; colorectal phenotype attenuated <100 polyps APC APC 1 1 Stefan Aretz
00029104 - F Germany - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated 60 polyps APC APC 1 1 Stefan Aretz
00029105 - F Germany - - No - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029106 - F Germany - - Yes - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029107 Greece, Athens, Molecular Diagnostics Laboratory - Greece - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated 50-100 polyps APC APC 1 1 Stefan Aretz
00029108 United Kingdom, London, Molecular and Population Genetics Laboratory, London Research Institute M ? (unknown) - - No - - FAP-1 additional phenotype data available; colorectal phenotype attenuated 834 polyps APC APC 1 1 Stefan Aretz
00029109 Japan, Tokyo, Department of Biochemistry, Cancer Institute - ? (unknown) - - No - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029110 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 100 polyps Colon descendens; colon cancer 57y, Rectum APC APC 1 1 Stefan Aretz
00029111 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps Rectum, Sigma, whole Colon; colon cancer 58y, 61y, 2x Sigma, Rectum APC APC 1 1 Stefan Aretz
00029112 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps entire colon; colon cancer 67y, Rectum APC APC 1 1 Stefan Aretz
00029113 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, <20 polyps Cecum, Colon ascendens; esophago-gastro-duodenoscopy age 44y; duodenal phenotypemultiple gastric polyps APC APC 1 1 Stefan Aretz
00029114 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 multiple epidermoid cysts APC APC 1 1 Stefan Aretz
00029115 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, >100 polyps Sigma, Colon ascendens; colon cancer 45y, 54y, Sigma, Rectum; esophago-gastro-duodenoscopy age 46y; duodenal phenotypemultiple gastric polyps APC APC 1 1 Stefan Aretz
00029116 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps Rectum, Colon ascendens; colon cancer 43y, Cecum, Colon ascendens APC APC 1 1 Stefan Aretz
00029117 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, few polyps Sigma APC APC 1 1 Stefan Aretz
00029118 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; multiple polyps entire colon APC APC 1 1 Stefan Aretz
00029119 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, multiple polyps Colon ascendens APC APC 1 1 Stefan Aretz
00029120 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 100 polyps Colon ascendens; esophago-gastro-duodenoscopy age 39y; duodenal phenotypefew gastric polyps APC APC 1 1 Stefan Aretz
00029121 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype severe, thousands polyps entire colon; colon cancer 48y, Cecum APC APC 1 1 Stefan Aretz
00029122 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, >400 polyps entire colon; colon cancer 37y, Sigma APC APC 1 1 Stefan Aretz
00029123 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, hundreds polyps entire colon APC APC 1 1 Stefan Aretz
00029124 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, <50 polyps entire colon APC APC 1 1 Stefan Aretz
00029125 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 20 polyps Sigma, Rectum APC APC 1 1 Stefan Aretz
00029126 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 15 polyps Rectum, Colon ascendens, Colon transversum APC APC 1 1 Stefan Aretz
00029127 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 50 polyps Sigma, Colon descendens APC APC 1 1 Stefan Aretz
00029128 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, <10 polyps Colon ascendens, Colon descendens; esophago-gastro-duodenoscopy age 26y; duodenal phenotypemultiple gastric polyps APC APC 1 1 Stefan Aretz
00029129 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, <25 polyps Cecum APC APC 1 1 Stefan Aretz
00029130 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, <10 polyps Colon descendens APC APC 1 1 Stefan Aretz
00029131 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, <20 polyps Colon descendens APC APC 1 1 Stefan Aretz
00029132 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 36 polyps Colon descendens; esophago-gastro-duodenoscopy age 24y; duodenal phenotypemultiple gastric polyps, ileal polyps APC APC 1 1 Stefan Aretz
00029133 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps Colon ascendens APC APC 1 1 Stefan Aretz
00029134 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, <10 polyps Rectum, Colon descendens; colon cancer 19y, Sigma APC APC 1 1 Stefan Aretz
00029135 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, few polyps entire colon; esophago-gastro-duodenoscopy age 26y; duodenal phenotypemultiple gastric polyps APC APC 1 1 Stefan Aretz
00029136 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 25 polyps Sigma, Colon descendens, Colon transversum APC APC 1 1 Stefan Aretz
00029137 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 20 polyps Colon ascendens APC APC 1 1 Stefan Aretz
00029138 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, multiple polyps entire colon APC APC 1 1 Stefan Aretz
00029139 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, hundreds polyps entire colon APC APC 1 1 Stefan Aretz
00029140 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, hundreds polyps entire colon APC APC 1 1 Stefan Aretz
00029141 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; >300 polyps entire colon APC APC 1 1 Stefan Aretz
00029142 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, >200 polyps entire colon; esophago-gastro-duodenoscopy age 34y; duodenal polyps APC APC 1 1 Stefan Aretz
00029143 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, multiple polyps entire colon APC APC 1 1 Stefan Aretz
00029144 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; esophago-gastro-duodenoscopy age 15y; duodenal phenotypemultiple gastric polyps APC APC 1 1 Stefan Aretz
00029145 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer 68y, Sigma APC APC 1 1 Stefan Aretz
00029146 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 150 polyps entire colon APC APC 1 1 Stefan Aretz
00029147 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps Sigma, whole Colon, Rectum; colon cancer 45y, Rectum APC APC 1 1 Stefan Aretz
00029148 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 100 polyps entire colon APC APC 1 1 Stefan Aretz
00029149 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, hundreds polyps Rectum to Colon transversum APC APC 1 1 Stefan Aretz
00029150 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, hundreds polyps entire colon APC APC 1 1 Stefan Aretz
00029151 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, thousands polyps Rectum to Colon transversum APC APC 1 1 Stefan Aretz
00029152 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, hundreds polyps Rectum to Cecum APC APC 1 1 Stefan Aretz
00029153 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, >100 polyps Colon descendens to Cecum APC APC 1 1 Stefan Aretz
00029154 USA, Salt Lake City, University of Utah, Department of Oncological Sciences F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps Rectum to Colon ascendens; colon cancer 64y, Anorectal APC APC 1 1 Stefan Aretz
00029155 USA, Salt Lake City, University of Utah, Department of Oncological Sciences M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, >100 polyps entire colon APC APC 1 1 Stefan Aretz
00029156 USA, Houston, Department of Cancer Biology, University of Texas - United States - - No - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029157 - M Germany - - Yes - symptoms FAP-1 additional phenotype data available; colorectal phenotype attenuated, ? nr polyps APC APC 1 1 Stefan Aretz
00029158 - M Germany - - Yes - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029159 - F Germany - - Yes - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029160 - M Germany - - Yes - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029161 - F Germany - - Yes - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029162 - F Germany - - Yes - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029163 - M Germany - - Yes - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029164 - M Germany - - Yes - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029165 - M Germany - - Yes - - FAP-1 no additional phenotype data available; colorectal phenotype attenuated, ? nr polyps APC APC 1 1 Stefan Aretz
00029166 Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science F (Japan) - - No - - FAP-1 additional phenotype data available; colorectal phenotype attenuated <100 polyps APC APC 1 1 Stefan Aretz
00029167 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 750 polyps colon, rectum APC APC 1 1 Stefan Aretz
00029168 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype severe, >1000 polyps colon; duodenal polyps (HP:0004783) APC APC 1 1 Stefan Aretz
00029169 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, 46 polyps colon, rectum APC APC 1 1 Stefan Aretz
00029170 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, >100 polyps colon APC APC 1 1 Stefan Aretz
00029171 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, >100 polyps colon, rectum; colon cancer 51y APC APC 1 1 Stefan Aretz
00029172 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype atypical, >100 polyps colon, rectum APC APC 1 1 Stefan Aretz
00029173 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, <10 polyps colon APC APC 1 1 Stefan Aretz
00029174 Belgium, Brussels, Département de Chirurgie, Cliniques universitaires Saint-Luc, Université Catholique de Louvain - - Europe - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical, >100 polyps colon, rectum APC APC 1 1 Stefan Aretz
00029175 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer APC APC 1 1 Stefan Aretz
00029176 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer, colon descendens APC APC 1 1 Stefan Aretz
00029177 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 50 polyps entire colon; duodenal polyps APC APC 1 1 Stefan Aretz
00029178 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 100 polyps entire colon APC APC 1 1 Stefan Aretz
00029179 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 40 polyps entire colon APC APC 1 1 Stefan Aretz
00029180 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 1 polyps colon ascendens APC APC 1 1 Stefan Aretz
00029181 United Kingdom, London, Molecular and Population Genetics Laboratory, London Research Institute M ? (unknown) - - No - - FAP-1 additional phenotype data available; colorectal phenotype severe 2100 polyps APC APC 1 1 Stefan Aretz
00029182 German HNPCC Consortium - Munich - Germany - - No - - FAP-1 no additional phenotype data available APC APC 1 1 Elke Holinski-Feder
00029183 France, Paris, Laboratoire de Génétique des Tumeurs, Institut Curie - France - - No - - FAP-1 no additional phenotype data available APC APC 1 1 Stefan Aretz
00029184 - M Germany - - Yes - - FAP-1 additional phenotype data available; multiple polyps entire colon; colectomy 36y; esophago-gastro-duodenoscopy age 36y; duodenal polyps (HP:0004783) APC APC 1 1 Stefan Aretz
00029185 United Kingdom, Salisbury, Wessex Regional Genetics Laboratory, Salisbury District Hospital - United Kingdom (Great Britain) - - No - - FAP-1 additional phenotype data available; colorectal phenotype classical hundreds polyps APC APC 1 1 Stefan Aretz
00029186 Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science F (Japan) - - No - - FAP-1 additional phenotype data available; colorectal phenotype attenuated <100 polyps; colon cancer APC APC 1 1 Stefan Aretz
00029187 Switzerland, Basel, Human Genetics, Department of Research, University Clinics - Switzerland - - No - - FAP-1 no additional phenotype data available; 100-1000 polyps APC APC 1 1 Stefan Aretz
00029188 Greece, Athens, Molecular Diagnostics Laboratory - Greece - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated 50-100 polyps APC APC 1 1 Stefan Aretz
00029189 United Kingdom, Birmingham, DNA Laboratory, Birmingham Heartlands Hospital - United Kingdom (Great Britain) - - No - - FAP-1 additional phenotype data available; >100 polyps APC APC 1 1 Stefan Aretz
00029190 United Kingdom, Birmingham, DNA Laboratory, Birmingham Heartlands Hospital - United Kingdom (Great Britain) - - No - - FAP-1 additional phenotype data available; >100 polyps APC APC 1 1 Stefan Aretz
00029191 United Kingdom, Birmingham, DNA Laboratory, Birmingham Heartlands Hospital - United Kingdom (Great Britain) - - No - - FAP-1 additional phenotype data available; >100 polyps APC APC 1 1 Stefan Aretz
00029192 - M Germany - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype classical multiple polyps; esophago-gastro-duodenoscopy age 21y APC APC 1 1 Stefan Aretz
00029193 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital F Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, multiple polyps entire colon APC APC 1 1 Stefan Aretz
00029194 Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital M Canada - - Yes - - FAP-1 additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer 55y, colon ascendens 2x APC APC 1 1 Stefan Aretz
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