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.
Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial: initial diagnosis, before molecular testing
Diagnosis/Definite: phenotype individual after 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
Age/Diagnosis: age diagnosis was confirmed
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
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)
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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Example |
Matches |
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Text |
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| |
Text |
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! |
Text |
!fs |
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^ |
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^p.(Arg |
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$ |
Text |
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="" |
Text |
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="" |
Text |
="p.0" |
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!="" |
Text |
!="" |
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!="" |
Text |
!="p.0" |
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combination |
Text |
*|Ter !fs |
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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 |
<=2020-06 |
all entries in or before June, 2020 |
> |
Date |
>2020-06 |
all entries after June, 2020 |
>= |
Date |
>=2020-06-15 |
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combination |
Date |
2019|2020 <2020-03 |
all entries in 2019 or 2020, and before March, 2020 |
|
Numeric |
23 |
all entries exactly matching 23 |
| |
Numeric |
23|24 |
all entries exactly matching 23 or 24 |
! |
Numeric |
!23 |
all entries not exactly matching 23 |
< |
Numeric |
<23 |
all entries lower than 23 |
<= |
Numeric |
<=23 |
all entries lower than, or equal to, 23 |
> |
Numeric |
>23 |
all entries higher than 23 |
>= |
Numeric |
>=23 |
all entries higher than, or equal to, 23 |
combination |
Numeric |
>=20 <30 !23 |
all entries with values from 20 to 29, but not equal to 23 |
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Example |
Matches |
Asian |
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc. |
Asian !Caucasian |
all entries containing 'Asian' but not containing 'Caucasian' |
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"South Asian" |
all entries containing 'South Asian', but not containing 'South East Asian' |
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How to query |
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 Phenotype ID
|

 Phenotype details
|

 Diagnosis/Initial
|

 Diagnosis/Definite
|

 Inheritance
|

 Age/Examination
|

 Age/Diagnosis
|

 Age/Onset
|

 Phenotype/Onset
|

 Protein
|

 Tumor/MSI
|

 Cysts
|

 Eye/Retina
|

 Neoplasm
|

 Owner
|

 Individual ID
|
0000011237 |
>15 polyps; no colon cancer ; no esophago-gastro-duodenoscopy; uncertain duodenal phenotype |
colorectal symptoms |
- |
Unknown |
44y |
- |
- |
- |
- |
- |
- |
- |
- |
Carli Tops |
00012550 |
0000013361 |
additional tooth; colorectal phenotype classical, ? nr polyps; no colon cancer ; colectomy 15y; (duodenal polyps (?HP:0004783)) |
call (screening) |
- |
Unknown |
14y |
- |
- |
- |
- |
- |
- |
- |
no |
Maurizio Genuardi |
00014674 |
0000013362 |
? |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014675 |
0000013363 |
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 29y, rectum; colectomy 10y; (duodenal polyps (?HP:0004783)) |
call (screening) |
- |
Unknown |
10y |
- |
- |
- |
- |
- |
- |
- |
no |
Maurizio Genuardi |
00014676 |
0000013364 |
no additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 32y |
colorectal symptoms |
- |
Unknown |
32y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014677 |
0000013365 |
no additional phenotype data available; colorectal phenotype classical, ? nr polyps |
call (screening) |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014678 |
0000013366 |
no additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer 52y; colectomy 52y |
colorectal symptoms |
- |
Unknown |
52y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014679 |
0000013367 |
colorectal phenotype classical, ? nr polyps; colectomy 39y; esophago-gastro-duodenoscopy age 39y; no duodenal phenotyp |
call (screening) |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
no |
Maurizio Genuardi |
00014680 |
0000013368 |
additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp |
call (screening) |
- |
Unknown |
35y |
- |
- |
- |
- |
- |
- |
- |
no |
Maurizio Genuardi |
00014681 |
0000013369 |
additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp |
call (screening) |
- |
Unknown |
36y |
- |
- |
- |
- |
- |
- |
- |
no |
Maurizio Genuardi |
00014682 |
0000013370 |
additional phenotype data available; colorectal phenotype classical 184 polyps; colectomy 19y; esophago-gastro-duodenoscopy age 20y; no duodenal phenotyp |
call (screening) |
- |
Familial |
14y |
- |
- |
- |
- |
- |
- |
- |
no |
Maurizio Genuardi |
00014683 |
0000013371 |
additional phenotype data available; colorectal phenotype classical, ? nr polyps; esophago-gastro-duodenoscopy age 38y; duodenal phenotype |
call (screening) |
- |
Unknown |
38y |
- |
- |
- |
- |
- |
- |
- |
no |
Maurizio Genuardi |
00014684 |
0000013372 |
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 23y |
by chance |
- |
Isolated (sporadic) |
- |
- |
- |
- |
- |
- |
- |
CHRPE |
- |
Maurizio Genuardi |
00014685 |
0000013373 |
additional phenotype data available |
call (screening) |
- |
Unknown |
3y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014686 |
0000013374 |
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 18y; duodenal phenotype |
call (screening) |
- |
Familial |
18y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014687 |
0000013375 |
no additional phenotype data available |
call (screening) |
- |
Unknown |
85y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014688 |
0000013376 |
no additional phenotype data available; colorectal phenotype atypical, ? nr polyps; colon cancer 56y, rectum-sigma |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014689 |
0000013377 |
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 36y |
call (screening) |
- |
Familial |
36y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014690 |
0000013378 |
additional phenotype data available |
call (screening) |
- |
Familial |
11y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014691 |
0000013379 |
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 15y |
call (screening) |
- |
Familial |
14y |
- |
- |
- |
- |
- |
- |
CHRPE |
- |
Maurizio Genuardi |
00014692 |
0000013380 |
- |
call (screening) |
- |
Familial |
7y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014693 |
0000013381 |
; colorectal phenotype attenuated, ? nr polyps; colectomy 64y |
call (screening) |
- |
Unknown |
64y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014694 |
0000013382 |
; colorectal phenotype attenuated 5 polyps |
call (screening) |
- |
Unknown |
33y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014695 |
0000013383 |
colorectal phenotype attenuated 5 polyps |
call (screening) |
- |
Unknown |
35y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014696 |
0000013384 |
colorectal phenotype classical 60 polyps; colectomy 19y |
call (screening) |
- |
Unknown |
19y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014697 |
0000013385 |
additional phenotype data available; colorectal phenotype attenuated 70 polyps; colectomy 32y |
call (screening) |
- |
Unknown |
25y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014698 |
0000013386 |
additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 14y |
call (screening) |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014699 |
0000013387 |
additional phenotype data available; colorectal phenotype classical, ? nr polyps |
colorectal symptoms |
- |
Unknown |
11y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014700 |
0000013388 |
no additional phenotype data available |
- |
- |
Unknown |
25y |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014701 |
0000013389 |
colorectal phenotype classical, ? nr polyps |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Maurizio Genuardi |
00014702 |
0000013395 |
1 extra canine on right side; colorectal phenotype severe, hundreds polyps colon; colon cancer 40.5y, sigmoid colon; colectomy 41y |
colorectal symptoms |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Makia Marafie |
00014708 |
0000013396 |
no additional phenotype data available; colorectal phenotype severe, hundreds polyps colon; colectomy 20y |
colorectal symptoms |
- |
Unknown |
20y |
- |
- |
- |
- |
- |
- |
- |
- |
Makia Marafie |
00014709 |
0000013399 |
no additional phenotype data available; colorectal phenotype classical >100 polyps; colon cancer 38y, Rectum |
colorectal symptoms |
- |
Unknown |
38y |
- |
- |
- |
- |
- |
- |
- |
- |
Karl Heinimann |
00014712 |
0000013400 |
additional phenotype data available; colorectal phenotype classical >100 polyps; colon cancer 40y, Rectum |
colorectal symptoms |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Karl Heinimann |
00014713 |
0000014147 |
supernumerary teeth, lipomas; colorectal phenotype classical, 100 polyps colon, small intestine and rectum; colon cancer adenoma tubular, jejunum proximal, sigma, rectum; polypectomy 24y; no duodenal phenotyp |
colorectal symptoms |
- |
Unknown |
24y |
- |
- |
- |
- |
- |
normal |
- |
lipoma |
Maria Alejandra Ortiz |
00015460 |
0000014150 |
additional phenotype data available; colorectal phenotype attenuated, multiple polyps entire colon; no colon cancer ; esophago-gastro-duodenoscopy age 48y; duodenal phenotypenormal |
- |
- |
Familial |
48y |
- |
- |
- |
- |
- |
- |
- |
no |
Stefan Aretz |
00015463 |
0000014151 |
additional phenotype data available; colorectal phenotype attenuated, 51-100 polyps entire colon; no colon cancer ; esophago-gastro-duodenoscopy age 55y; duodenal phenotypenormal |
colorectal symptoms |
- |
Familial |
45y |
- |
- |
- |
- |
- |
- |
- |
- |
Stefan Aretz |
00015464 |
0000014152 |
additional phenotype data available; colorectal phenotype atypical, 100-500 polyps entire colon; no colon cancer ; IPAA ; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp |
colorectal symptoms |
- |
Familial |
40y |
- |
- |
- |
- |
- |
- |
- |
- |
Stefan Aretz |
00015465 |
0000014153 |
additional phenotype data available; colorectal phenotype attenuated, 21-50 polyps entire colon; no colon cancer ; colectomy 67y IRA; esophago-gastro-duodenoscopy age 72y; uncertain duodenal phenotype |
- |
- |
Familial |
61y |
- |
- |
- |
- |
- |
- |
- |
desmoids |
Stefan Aretz |
00015466 |
0000014154 |
additional phenotype data available; colorectal phenotype attenuated 51-100 polyps |
- |
- |
Familial |
40y |
- |
- |
- |
- |
- |
- |
- |
- |
Stefan Aretz |
00015467 |
0000014155 |
additional phenotype data available; colorectal phenotype classical numerous polps |
colorectal symptoms |
- |
Familial |
24y |
- |
- |
- |
- |
- |
- |
CHRPE |
- |
Stefan Aretz |
00015468 |
0000014156 |
additional phenotype data available; colorectal phenotype classical, 500-1000 polyps entire colon; colectomy 31y IPAA |
- |
- |
Familial |
22y |
- |
- |
- |
- |
- |
- |
- |
- |
Stefan Aretz |
00015469 |
0000014157 |
additional phenotype data available; colorectal phenotype classical, 100-500 polyps entire colon; no colon cancer ; colectomy 24y IPAA; esophago-gastro-duodenoscopy age 23y; duodenal phenotypenormal |
colorectal symptoms |
- |
Familial |
24y |
- |
- |
- |
- |
- |
- |
- |
- |
Stefan Aretz |
00015470 |
0000014158 |
no additional phenotype data available; colorectal phenotype attenuated, polyps 54+ resected polyps; path: 29 adenomatous; no colon cancer ; esophago-gastro-duodenoscopy; (duodenal polyps (?HP:0004783)) |
call (screening) |
- |
Unknown |
40y |
- |
- |
- |
- |
- |
- |
- |
- |
Kathryn Mraz |
00015471 |
0000014791 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
45y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00011678 |
0000014853 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
60y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016137 |
0000014854 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
40y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016101 |
0000014855 |
- |
- |
- |
Isolated (sporadic) |
61y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016102 |
0000014856 |
- |
- |
- |
Isolated (sporadic) |
47y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016139 |
0000014858 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
52y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016138 |
0000014860 |
colorectal adenomatous polyposis |
- |
- |
Unknown |
37y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016134 |
0000014861 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
58y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016130 |
0000014862 |
colorectal adenomatous polyposis |
- |
- |
Unknown |
27y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016131 |
0000014863 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
47y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016132 |
0000014864 |
colorectal adenomatous polyposis |
- |
- |
Unknown |
72y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00011681 |
0000014866 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
12y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016276 |
0000014867 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
60y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016277 |
0000014868 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
39y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016278 |
0000014869 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
52y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016279 |
0000014870 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
40y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016280 |
0000014871 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
42y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016281 |
0000014872 |
colorectal adenomatous polyposis |
- |
- |
Familial |
39y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016282 |
0000014873 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
50y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016283 |
0000014874 |
colorectal adenomatous polyposis |
- |
- |
Unknown |
31y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016284 |
0000014875 |
colorectal adenomatous polyposis |
- |
- |
Unknown |
27y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016285 |
0000014876 |
colorectal adenomatous polyposis |
- |
- |
Unknown |
44y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016286 |
0000014877 |
colorectal adenomatous polyposis |
- |
- |
Familial |
49y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016287 |
0000014879 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
59y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016289 |
0000014880 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
61y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016290 |
0000014881 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
43y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016291 |
0000014882 |
colorectal adenomatous polyposis |
- |
- |
Unknown |
38y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016292 |
0000014883 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
60y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016293 |
0000014885 |
colorectal adenomatous polyposis |
- |
- |
Isolated (sporadic) |
69y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016295 |
0000014887 |
colorectal adenomatous polyposis |
- |
- |
Unknown |
62y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016297 |
0000014888 |
colorectal adenomatous polyposis |
- |
- |
Unknown |
48y |
- |
- |
- |
- |
- |
- |
- |
- |
Sukanya Horpaopan |
00016298 |
0000068455 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Gemeinschaftspraxis für Humangenetik Dresden |
00081320 |
0000085766 |
polyposis; colorectal phenotype attenuated |
- |
- |
Unknown |
- |
71y |
- |
- |
- |
- |
- |
- |
- |
Sira Moreno |
00108139 |
0000085767 |
polyposis; cause diagnosis colorectal symptoms; 27 polyps |
- |
- |
Familial, autosomal dominant |
- |
55y |
- |
- |
- |
- |
- |
- |
- |
Sira Moreno |
00108140 |
0000085769 |
polyposis; cause diagnosis colorectal symptoms; 25 polyps; ; 57y-colon cancer;; colorectal phenotype attenuated |
- |
- |
Unknown |
- |
46y |
- |
- |
- |
- |
- |
- |
- |
Sira Moreno |
00108142 |
0000085771 |
polyposis; cause diagnosis colorectal symptoms; 100 polyps; adenoma complete colon; uncertain; colorectal phenotype attenuated |
- |
- |
Unknown |
- |
38y |
- |
- |
- |
- |
- |
- |
- |
Elke Holinski-Feder |
00108144 |
0000129698 |
CRC patient with classic adenomatous polyposis (mucosa completely covered with polyps) diagnosed at age 46. |
- |
- |
Familial |
- |
46y |
- |
- |
- |
- |
- |
- |
- |
Pilar Mur Molina |
00164660 |
0000148154 |
multiple polyposis (11, mostly TVAs). Last known age 55y |
- |
- |
Unknown |
- |
- |
52y |
- |
- |
- |
- |
- |
- |
INSiGHT group |
00195159 |
0000148157 |
multiple polyposis (about 10); MLH1+ (on adenoma) MSH2+ (on adenoma) MSH6+ (on adenoma) Last known age: 62y |
- |
- |
Unknown |
- |
- |
48y |
- |
MLH1+ |
MSS (on adenoma) |
- |
- |
- |
INSiGHT group |
00195162 |
0000149719 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Carli Tops |
00202572 |
0000149859 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Astrid Out |
00202712 |
0000150393 |
colorectal phenotype attennuated |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Bert Redeker |
00203246 |
0000150394 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Bert Redeker |
00203247 |
0000150395 |
colorectal phenotype attennuated |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Mette Gaustadnes |
00203248 |
0000150397 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Mette Gaustadnes |
00203250 |
0000150402 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Mette Gaustadnes |
00203255 |
0000150419 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Mette Gaustadnes |
00203272 |
0000150420 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Mette Gaustadnes |
00203273 |
0000150422 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Mette Gaustadnes |
00203275 |
0000150423 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Mette Gaustadnes |
00203276 |
0000150424 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Mette Gaustadnes |
00203277 |
0000150425 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Mette Gaustadnes |
00203278 |
0000150428 |
CC criteria B+; total colectomy; diagnosis: colorectal symptoms; colorectal phenotype classical, CHRPE |
- |
- |
Unknown |
- |
42y |
- |
- |
- |
- |
- |
- |
- |
Kathleen Claes |
00203281 |
0000150435 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Kristina Lagerstedt Robinson |
00203288 |
0000150440 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Kristina Lagerstedt Robinson |
00203293 |
0000150442 |
colorectal phenotype attennuated |
- |
- |
Unknown |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Kristina Lagerstedt Robinson |
00203295 |
|
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