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Phenotypes for disease #00091 (CRC (cancer, colorectal, susceptibility to (CRC)), OMIM:114500)
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Diagnosis/Initial
: initial diagnosis, before molecular testing
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Protein
: result from protein staining
Tumor/MSI
: tumor MSI (micro-sattelite instability); MSI-H (MSI-high), MSI-L (MSI-low), MSS ( microsatellite stable), ? (unknown), n/a (not analysed)
Diagnosis/Criteria
: why was individual tested?
Cysts
: individual has cysts, please specify
All options:
normal = no cysts
adenomatoid lung disease = cystic adenomatoid lung disease (HP:0010959)
aneurysmal bone = aneurysmal bone cyst (HP:0012063)
bone angiomatosis = cystic angiomatosis bone (HP:0002833 )
arachnoid = arachnoid cysts (HP:0100702)
basal ganglia = basal ganglia cysts (HP:0006799)
bone = bone cysts (HP:0100696)
bone unicameral = unicameral bone cyst (HP:0012064)
branchial = branchial cyst (HP:0009796)
bronchogenic = bronchogenic cyst (HP:0100730)
cerebellar = cerebellar cysts (HP:0002350)
cerebralic malformation = cerebral cystic malformation (HP:0010576)
choledochal = choledochal cyst (HP:0100890)
choroid plexus = choroid plexus cyst (HP:0002190)
cortical = cortical cysts (HP:0000803)
Dandy-Walker = Dandy-Walker cyst (HP:0001305)
epidermal = epidermal (epidermoid) cysts (HP:0200040)
eyelid = cysts eyelid (HP:0010604)
fetal choroid plexus = fetal choroid plexus cysts (HP:0011426)
fetal hygroma = fetal cystic hygroma (HP:0010878)
gastric duplication = gastric duplication cyst (HP:0011139)
intracranial dermoid = intracranial dermoid cyst (HP:0012097)
intracranial epidermoid = intracranial epidermoid cyst (HP:0012096)
intrahepatic bile duct = intrahepatic bile duct cysts (HP:0005209)
iris = iris cyst (HP:0011523)
laryngeal = laryngeal cyst (HP:0100640)
liver = cystic liver disease (HP:0006706)
hepatic = hepatic cysts (HP:0001407)
lung = cystic lung disease (HP:0005948)
lung lesion = cystic lung lesion (HP:0100632)
macular degeneration = cystic macular degeneration (HP:0008028)
orbital = orbital cysts (HP:0001144)
ovarian = ovarian cysts (HP:0000138)
pancreatic = pancreatic cysts (HP:0001737)
periventricular = periventricular cysts (HP:0007109)
pilonidal = pilonidal cyst (HP:0010769)
pinnae = cystic lesions pinnae (HP:0010723)
posterior fossa = posterior fossa cyst (HP:0007291)
posterior fossa ventricle 4th = posterior fossa cyst 4th ventricle (HP:0000933)
postnatalic hygroma = postnatal cystic hygroma (HP:0010879)
renal = renal cysts (HP:0000107)
retrocerebellar = retrocerebellar cyst (HP:0006951)
skin = skin cysts (HP:0200040)
spina bifida = spina bifida cystica (HP:0002475)
spinal canal = epidural arachnoid cysts spinal canal (HP:0009745)
subependymal = subependymal cysts (HP:0002416)
thyroglossal = thyroglossal cyst (HP:0010518)
urinary bladder = cystitis urinary bladder (HP:0100577)
? = unknown
n/a = not applicable
Eye/Retina
: abnormality retina
All options:
CHRPE = congenital hypertrophy of retinal pigment epithelium (HP:0011528)
CHRPE? = unclear congenital hypertrophy of retinal pigment epithelium (?HP:0011528)
no = normal retina
? = unknown
n/a = not analyse
Neoplasm
: individual has a neoplasm (please specify)
All options:
neoplasm = neoplasm (HP:0002664)
chondroblastoma = chondroblastoma (HP:0030432)
chondrosarcoma = chondrosarcoma (HP:0006765)
desmoids = desmoids (HP:0100245)
exostoses = exostoses (HP:0100777)
hepatoblastoma = hepatoblastoma (HP:0002884)
lipoma = lipoma (HP:0012032)
osteoma = osteome (HP:0100246)
osteosarcoma = osteosarcome (HP:0002669)
no = no neoplasm
? = unknown
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Date
2020
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Date
2020-03|2020-04
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Date
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<
Date
<2020
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Date
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Date
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Date
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Date
2019|2020 <2020-03
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Numeric
23
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Numeric
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Numeric
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Numeric
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Numeric
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combination
Numeric
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all entries containing 'South Asian', but not containing 'South East Asian'
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1838 entries on 19 pages. Showing entries 1 - 100.
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Phenotype ID
Diagnosis/Initial
Inheritance
Age/Examination
Diagnosis/Definite
Age/Diagnosis
Age/Onset
Phenotype/Onset
Phenotype details
Protein
Tumor/MSI
Diagnosis/Criteria
Cysts
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
colorectal symptoms
Isolated (sporadic)
57y
-
-
-
-
additional phenotype data available; colon cancer 57y, rectum; colectomy 57y; no duodenal phenotyp
-
-
-
-
-
-
Mojtaba Hasanpour
00014704
0000013392
-
Isolated (sporadic)
55y
-
-
-
-
additional phenotype data available; colon cancer 55y; no duodenal phenotyp
-
-
-
-
-
-
Mojtaba Hasanpour
00014705
0000013393
colorectal symptoms
Unknown
57y
-
-
-
-
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 57y; colectomy 57y; no duodenal phenotyp
-
-
-
-
-
-
Mojtaba Hasanpour
00014706
0000013394
colorectal symptoms
Unknown
64y
-
-
-
-
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 64y; colectomy 64y; no duodenal phenotyp
-
-
-
-
-
-
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
?
?
Andreas Laner
00173822
0000144003
-
Unknown
53y
54y
53y
-
-
CRC (Sigma) and endometrium-ca, MSI-H, loss MSH2/MSH6
-
-
-
normal
?
?
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
0000146951
-
Unknown
65y
-
-
65y
-
Additional info: adenocarc coecum;
MLH1-;MSH2+;MSH6+;PMS2-
MSI-H
-
-
-
-
INSiGHT group
00187381
0000146955
-
Unknown
52y
-
-
52y
-
-
MSH6-;MLH1+;MSH2+;PMS2+
-
-
-
-
-
Michael Woods
00187414
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