Phenotypes for disease #00091

1705 entries on 18 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Cysts     

Diagnosis/Original     

Eye/Retina     

Neoplasm     

Owner     

Individual ID     
0000000046 - Familial, autosomal dominant - - - - - Multiple colorectal adenomas Colorectal carcinoma Endometrial carcinoma - - - - - - - Ian Tomlinson 00000357
0000000047 - Familial, autosomal dominant - - - - - Multiple colorectal adenomas Colorectal Carcinoma Endometrial carcinoma - - - - - - - Ian Tomlinson 00000355
0000000048 - Familial, autosomal dominant - - - - - Multiple colorectal adenomas Colorectal carcinoma Endometrial carcinoma - - - - - - - Ian Tomlinson 00000358
0000000049 - Unknown - - - - - Multiple colorectal adenomas - - - - - - - Ian Tomlinson 00000359
0000000050 - Familial, autosomal dominant - - - - - Colorectal carcinoma - - - - - - - Ian Tomlinson 00000360
0000012922 - Isolated (sporadic) - - - - - no additional phenotype data available; colorectal phenotype classical, ? nr polyps - - - - ? - - Javier Garcia-Planells 00014235
0000012930 - Unknown - - - - - ? - - - - ? - - Silvana Penco 00014243
0000013391 - Isolated (sporadic) 57y - - - - additional phenotype data available; colon cancer 57y, rectum; colectomy 57y; no duodenal phenotyp - - - - colorectal symptoms - - Mojtaba Hasanpour 00014704
0000013392 - Isolated (sporadic) 55y - - - - additional phenotype data available; colon cancer 55y; no duodenal phenotyp - - - - ? - - Mojtaba Hasanpour 00014705
0000013393 - Unknown 57y - - - - additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 57y; colectomy 57y; no duodenal phenotyp - - - - colorectal symptoms - - Mojtaba Hasanpour 00014706
0000013394 - Unknown 64y - - - - additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 64y; colectomy 64y; no duodenal phenotyp - - - - colorectal symptoms - - Mojtaba Hasanpour 00014707
0000014851 - Familial 64y - - - - familial colorectal cancer - - - - - - - Sukanya Horpaopan 00016135
0000014852 - Familial 46y - - - - familial colorectal cancer - - - - - - - Sukanya Horpaopan 00016136
0000014865 - Familial 40y - - - - familial colorectal cancer - - - - - - - Sukanya Horpaopan 00016275
0000014878 - Familial - - - - - familial colorectal cancer - - - - - - - Sukanya Horpaopan 00016288
0000014884 - Familial 47y - - - - familial colorectal cancer - - - - - - - Sukanya Horpaopan 00016294
0000014886 - Familial 82y - - - - familial colorectal cancer - - - - - - - Sukanya Horpaopan 00016296
0000014889 - Familial 65y - - - - familial colorectal cancer - - - - - - - Sukanya Horpaopan 00016299
0000014890 - Familial - - - - - familial colorectal cancer - - - - - - - Sukanya Horpaopan 00016129
0000015218 - Familial, autosomal dominant 40y - - - - - - - - - ? - - Ian Tomlinson 00016595
0000017576 - Familial 30y - - - - 30y MSI caecum adenocarcinoma; 15y astrocytoma, presumably as a consequence of neurofibromatosis - - - - - - - Tom van Wezel 00019821
0000017577 - Familial 34y - - - - - - - - - - - - Tom van Wezel 00019822
0000017793 - Unknown - - - - - - - - - - - - - Christopher Smith 00020030
0000020182 - Unknown - - - - - colorectal adenoma - - - - - - - Maren Fridtjofsen Hansen 00020473
0000020183 - Unknown - - - - - rectal neuroendocrine tumour, 34 years, colorectal adenomas. - - - - - - - Maren Fridtjofsen Hansen 00022288
0000027948 - - - - - - - colorectal cancer - - - - - - - Johan den Dunnen 00034550
0000027950 - - - - - - - colorectal cancer - - - - - - - Johan den Dunnen 00034552
0000027951 - - - - - - - Colorectal cancer - - - - - - - Phil Chambers 00034553
0000027952 - - - - - - - Colorectal cancer - - - - - - - Phil Chambers 00034554
0000027953 - - - - - - - Colorectal cancer - - - - - - - Phil Chambers 00034555
0000027954 - - - - - - - Colorectal cancer - - - - - - - Phil Chambers 00034556
0000027955 - - - - - - - Colorectal cancer - - - - - - - Phil Chambers 00034557
0000027956 - - - - - - - cancer, colorectal - - - - - - - Phil Chambers 00034558
0000042996 - Unknown - - - - - 40y-MSI caecum tumour, two adenomas, developed cumulatively ~30 polyps; 50y microsatellite stable endometrial cancer - - - - - - - Johan den Dunnen 00019773
0000083238 - Unknown - - - - - Colorectal cancer - - - - - - - Zoe Baily 00105342
0000083242 - Unknown - - - - - Colorectal cancer - - - - - - - Zoe Baily 00105346
0000083245 - Unknown - - - - - Colorectal cancer - - - - - - - Zoe Baily 00105349
0000083279 - Unknown - - - - - Colorectal cancer - - - - - - - Zoe Baily 00105383
0000083286 - Unknown - - - - - Colorectal cancer - - - - - - - Zoe Baily 00105390
0000085638 - Unknown - - - - - cancer, colorectal - - - - - - - Christopher Smith 00107884
0000085761 - Unknown - - - - - cancer, colon / rectum (bowel) - - - - - - - James Whitworth 00108134
0000085763 - Unknown - - 41y - - cancer, colon - - - - - - - Adrian Vilalta 00108136
0000085775 - Familial, autosomal dominant - - - - - polyposis - - - - - - - Rajiv Sarin, PhD 00108149
0000087468 - Familial, autosomal dominant - - - - - colon cancer - - - - - - - Johan den Dunnen 00111383
0000087469 - Familial - - - - - colon cancer - - - - - - - Johan den Dunnen 00111384
0000087470 - Familial, autosomal dominant - - - - - colon cancer; tumor IHC: MSH2-, MSH6- - - - - - - - Johan den Dunnen 00111385
0000087471 - Familial, autosomal dominant - - - - - colon cancer; tumor IHC: MSH2- - - - - - - - Johan den Dunnen 00111386
0000087472 - Familial - - - - - colon cancer; tumor IHC: MSH2- - - - - - - - Johan den Dunnen 00111387
0000087473 - Familial - - - - - colon cancer; tumor IHC: MSH2- - - - - - - - Johan den Dunnen 00111388
0000087532 - Unknown - - - - - - - - - - - - - Nancy Uhrhammer 00111430
0000127737 - Unknown - - - - - - - - - - - - - M Walsh 00155013
0000129689 - Familial - - 55y - - Amsterdam-positive family - - - - - - - Pilar Mur Molina 00164525
0000129692 - Familial - - - 48y CRC 3 polyps (48-55y); father diagnosed with prostate cancer at 88y - - - - - - - Pilar Mur Molina 00164655
0000129693 - Familial - - - 43y CRC 1 hyperplastic polyp - - - - - - - Pilar Mur Molina 00164656
0000129695 - Familial - - - 42y CRC - - - - - - - - Pilar Mur Molina 00164658
0000129734 - Familial - - - - - Amsterdam I criteria - - - - - - - Pilar Mur Molina 00164696
0000129735 - Familial - - - 44y CRC Bethesda - - - - - - - Pilar Mur Molina 00164698
0000129737 - Familial - - - 46y - - - - - - - - - Pilar Mur Molina 00164699
0000129738 - Familial - - - 51y - - - - - - - - - Pilar Mur Molina 00164700
0000129739 - Familial - - 59y - - Bethesda - - - - - - - Pilar Mur Molina 00164701
0000129741 - Familial - - 45y - - 3 polyps - - - - - - - Pilar Mur Molina 00164702
0000129742 CRC Familial - - 54y - - Bethesda - - - - - - - Pilar Mur Molina 00164703
0000130112 cancer, colorectal (CRC) - - - - - - - - - - - - - - Gerard C.P. Schaafsma 00165233
0000130113 cancer, colorectal (CRC) - - - - - - - - - - - - - - Johan den Dunnen 00165234
0000130114 cancer, colorectal (CRC) - - - - - - - - - - - - - - Gerard C.P. Schaafsma 00165238
0000130115 cancer, colorectal (CRC) - - - - - - - - - - - - - - Gerard C.P. Schaafsma 00165240
0000130116 cancer, colorectal (CRC) - - - - - - - - - - - - - - Gerard C.P. Schaafsma 00165241
0000130117 cancer, colorectal (CRC) - - - - - - - - - - - - - - Gerard C.P. Schaafsma 00165242
0000130118 cancer, colorectal (CRC) - - - - - - - - - - - - - - Gerard C.P. Schaafsma 00165243
0000138675 40y Unknown 40y - - - - CRC colon ascendens (pT3, N0, M0); isolated loss of PMS2 in tumor - - - normal colorectal symptoms ? ? Andreas Laner 00173822
0000144003 - Unknown 53y 54y 53y - - CRC (Sigma) and endometrium-ca, MSI-H, loss MSH2/MSH6 - - - normal colorectal symptoms ? ? Andreas Laner 00183266
0000144237 - Unknown - - - - - <41y CRC without suggestive familial history - - - - - - - Stephanie Baert-Desurmont 00183533
0000144242 - Unknown - - - 54y - 54 y jejunum C, tub. adenomas MLH1+;MSH2-;MSH6-;PMS2+ - - - - - - Elke Holinski-Feder 00183538
0000144266 - Unknown - - - 72y - Bethesda positive; MSS; transverse colon; 2 CRC in family (79y); Many TAs and Hyp. polyps (73-81y) MLH1+;MSH2+;MSH6+ - - - - - - Michael Woods 00183585
0000144267 - Unknown - - - 61y - Bethesda positive; descending colon; Cercival cancer (37y) - - - - - - - Michael Woods 00183586
0000144274 - Unknown - - - 21y - Bethesda positive; MSS; cecum MLH1+;MSH2+;MSH6+ - - - - - - Michael Woods 00183594
0000144304 - Unknown - - - - - CRC <41 years without suggestive familial history - - - - - - - Stephanie Baert-Desurmont 00183635
0000146891 - Unknown - - - 50y - - MLH1+;MSH2+;MSH6+ - - - - - - Rolf Sijmons 00186929
0000146893 - Unknown - - - - - - - MSI+ - - - - - InSiGHT - John-Paul Plazzer 00186938
0000146900 - Unknown - - - - - age onset/cancer site: index patient 61y/colo-rectal cancer, 2 patients with HNPCC tumours MLH1+ stable - - - - - Rolf Sijmons 00186974
0000146901 - Unknown - - - - - - - stable - - - - - Rolf Sijmons 00186988
0000146902 - Unknown - - - - - - - MSI+ - - - - - InSiGHT - John-Paul Plazzer 00186992
0000146903 - Unknown - - - - - - - MSI+ - - - - - InSiGHT - John-Paul Plazzer 00186993
0000146904 - Unknown - - - - - - - MSI+ - - - - - InSiGHT - John-Paul Plazzer 00186994
0000146905 - Unknown - - - - - - - MSI+ - - - - - InSiGHT - John-Paul Plazzer 00186996
0000146906 - Unknown - - - - - - - MSI+ - - - - - InSiGHT - John-Paul Plazzer 00187007
0000146907 - Unknown - - - - - - - MSI+ - - - - - InSiGHT - John-Paul Plazzer 00187008
0000146910 - Unknown - - - 50y - colorectal carcinoma (rectum); BRAF V600E negative (SEQ) MLH1-;MSH2+;MSH6+;PMS2- MSI-H (5/5) Personal history - - - - InSiGHT - John-Paul Plazzer 00187022
0000146911 - Unknown - - - 43y - colorectal carcinoma (acsending colon); BRAF V600E negative (SEQ) - MSI-H (5/5) - - - - - InSiGHT - John-Paul Plazzer 00187022
0000146919 - Unknown 69y - - 69y - - MLH1+;MSH2+;MSH6- MSI-H - - - - - INSiGHT group 00187064
0000146923 - Unknown 50y - - 50y - - - MSI-L - - - - - INSiGHT group 00187114
0000146924 - Unknown 61y - - 61y - Additional info: Colon; MLH1+;MSH2+;MSH6-;PMS2+ MSI-H - - - - - INSiGHT group 00187115
0000146927 - Unknown - - - - - MSS (1 CRC ) - MSS - - - - - InSiGHT - John-Paul Plazzer 00187147
0000146929 - Unknown - - - - - - MSH6+ - - - - - - INSiGHT group 00187149
0000146933 - Unknown - - - - - Additional info: End45 MSH6+ MSI-H - - - - - Rolf Sijmons 00187223
0000146936 - Unknown - - - - - - - MSI-H - - - - - Michael Woods 00187232
0000146946 - Unknown - - - - - - - - - - - - - Elke Holinski-Feder 00187309
0000146949 - Unknown - - - - - Additional info: End48, MSI-H, IHC MSH6, MLH1, MSH2, PMS2: all negative with positive internal control MLH1-;MSH2-;MSH6-;PMS2- MSI-H - - - - - Rolf Sijmons 00187378
0000146950 - Unknown - - - - - Additional info: End48, MSI-H, IHC MSH6, MLH1, MSH2, PMS2: all negative with positive internal control MLH1-;MSH2-;MSH6-;PMS2- MSI-H - - - - - Rolf Sijmons 00187378
0000146951 - Unknown 65y - - 65y - Additional info: adenocarc coecum; MLH1-;MSH2+;MSH6+;PMS2- MSI-H - - - - - INSiGHT group 00187381
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