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 (OMIM abbreviation)
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
- 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
Protein: result from protein staining
How to query this table
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Operator |
Column type |
Example |
Matches |
|
Text |
Arg |
all entries containing 'Arg' |
space |
Text |
Arg Ser |
all entries containing 'Arg' and 'Ser' |
| |
Text |
Arg|Ser |
all entries containing 'Arg' or 'Ser' |
! |
Text |
!fs |
all entries not containing 'fs' |
^ |
Text |
^p.(Arg |
all entries beginning with 'p.(Arg' |
$ |
Text |
Ser)$ |
all entries ending with 'Ser)' |
="" |
Text |
="" |
all entries with this field empty |
="" |
Text |
="p.0" |
all entries exactly matching 'p.0' |
!="" |
Text |
!="" |
all entries with this field not empty |
!="" |
Text |
!="p.0" |
all entries not exactly matching 'p.0?' |
combination |
Text |
*|Ter !fs |
all entries containing '*' or 'Ter' but not containing 'fs' |
|
Date |
2020 |
all entries matching the year 2020 |
| |
Date |
2020-03|2020-04 |
all entries matching March or April, 2020 |
! |
Date |
!2020-03 |
all entries not matching March, 2020 |
< |
Date |
<2020 |
all entries before the year 2020 |
<= |
Date |
<=2020-06 |
all entries in or before June, 2020 |
> |
Date |
>2020-06 |
all entries after June, 2020 |
>= |
Date |
>=2020-06-15 |
all entries on or after June 15th, 2020 |
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 |
Some more advanced examples:
Example |
Matches |
Asian |
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc. |
Asian !Caucasian |
all entries containing 'Asian' but not containing 'Caucasian' |
Asian|African !Caucasian |
all entries containing 'Asian' or 'African', but not containing 'Caucasian' |
"South Asian" |
all entries containing 'South Asian', but not containing 'South East Asian' |
To sort on a certain column, click on the column header or on the arrows.
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|
Legend |
How to query |
« First |
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Next |
Last » |

 Phenotype ID
|

 Phenotype details
|

 Diagnosis/Initial
|

 Diagnosis/Definite
|

 Inheritance
|

 Age/Examination
|

 Age/Diagnosis
|

 Age/Onset
|

 Phenotype/Onset
|

 Protein
|

 Owner
|

 Individual ID
|
0000078886 |
PPB, type III |
- |
- |
Unknown |
- |
- |
- |
- |
- |
LOVD |
00100664 |
0000078887 |
PPB, type III |
- |
- |
Unknown |
- |
- |
- |
- |
- |
LOVD |
00100665 |
0000078888 |
cervical embryonal rhabdomyosarcoma (cERMS); multinodular goiter (MNG); lung cysts |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100668 |
0000078889 |
Multinodular goiter (MNG) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100669 |
0000078890 |
Multinodular goiter (MNG); Wilms tumor |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100670 |
0000078891 |
Wilms tumor |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100671 |
0000078892 |
Sertoli-Leydig cell tumor (SLCT); Multinodular goiter (MNG); cervical primitive neuroepithelial tumor-Ewing sarcoma (cPNET) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100672 |
0000078893 |
Pulmonary sequestration (PS); cystic nephroma (CN) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100673 |
0000078894 |
- |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100674 |
0000078895 |
Multinodular goiter (MNG), Sertoli-Leydig cell tumor (SLCT) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100675 |
0000078896 |
Multinodular goiter (MNG), Sertoli-Leydig cell tumor (SLCT) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100676 |
0000078897 |
Multinodular goiter (MNG), Sertoli-Leydig cell tumor (SLCT) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100677 |
0000078898 |
Multinodular goiter (MNG) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100678 |
0000078899 |
Multinodular goiter (MNG) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100679 |
0000078900 |
Cystic nephroma (CN) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100680 |
0000078901 |
Cystic nephroma (CN) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100681 |
0000078902 |
PPB, type III |
- |
- |
Unknown |
- |
- |
- |
- |
- |
LOVD |
00100684 |
0000078903 |
Pineoblastoma / primitive neuroectodermal tumor |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100686 |
0000078904 |
Sertoli-Leydig Cell tumor (SLCT), Multinodular goiter (MNG) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100687 |
0000078905 |
Pituitary blastoma (PitB) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100688 |
0000078906 |
Pineoblastoma |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100689 |
0000078907 |
Pituitary blastoma |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100690 |
0000078908 |
Pituitary blastoma |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100691 |
0000078909 |
Pituitary blastoma (PitB) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100692 |
0000078910 |
Cystic nephroma (CN), papillary thyroid carcinoma |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100693 |
0000078911 |
Sertoli Leydig cell tumor (SLCT) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100694 |
0000078912 |
Pituitary blastoma (PitB) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100695 |
0000078913 |
Multinodular goiter (MNG), papillary thyroid cancer |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100696 |
0000078914 |
Pituitary blastoma (PitB) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100697 |
0000078915 |
cervical embryonal rhabdomyosarcoma (cERMS) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100698 |
0000078916 |
Ciliary body medulloepithelioma (CBME), thyroid cancer |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100699 |
0000078917 |
Pineoblastoma, vaginal polyps, cervical polyps, Sertoli Leydig cell tumor (SLCT), cervical embryonal rhabdomyosarcoma (cERMS), brainstem embryonal rhabdomyosarcoma |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100700 |
0000078918 |
Pineoblastoma |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100701 |
0000078919 |
Embryonal rhabdomyosarcoma (ERMS) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100702 |
0000078920 |
Pineoblastoma |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100703 |
0000078921 |
Pineoblastoma, renal cysts |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100704 |
0000078922 |
Pituitary blastoma (PitB), lung cysts, Cystic nephroma (CN) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100705 |
0000078923 |
Cystic nephroma (CN), Multinodular goiter (MNG) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100706 |
0000078924 |
Pineoblastoma, Multinodular goiter (MNG) |
- |
- |
Familial, autosomal dominant |
- |
- |
- |
- |
- |
Nancy Hamel |
00100707 |
0000078925 |
cervical embryonal rhabdomyosarcoma (cERMS), bladder ERMS |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100708 |
0000078926 |
cervical embryonal rhabdomyosarcoma (cERMS) |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100709 |
0000078927 |
Wilms tumor, lung cysts |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100710 |
0000078928 |
Wilms tumor, lung cysts |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100711 |
0000078929 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100712 |
0000078930 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100713 |
0000078931 |
Nasal chondromesenchymal hamartoma |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100714 |
0000078932 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100715 |
0000078933 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100716 |
0000078934 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100717 |
0000078935 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100718 |
0000078936 |
Renal cysts |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100719 |
0000078937 |
Nasal chondromesenchymal hamartoma |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100720 |
0000078938 |
Sertoli Leydig cell tumor, Multinodular goiter |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100721 |
0000078939 |
Pituitary blastoma |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100722 |
0000078940 |
Sertoli Leydig cell tumor+ personal or family history of PPB |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100723 |
0000078941 |
Sertoli Leydig cell tumor+ personal or family history of PPB |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100724 |
0000078942 |
Gynandroblastoma + personal or family history of PPB |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100725 |
0000078943 |
juvenile granulosa cell tumor + personal or family history of PPB |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100726 |
0000078944 |
Gynandroblastoma + personal or family history of PPB |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100727 |
0000078945 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100728 |
0000078946 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100729 |
0000078947 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100730 |
0000078948 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100731 |
0000078949 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
Nancy Hamel |
00100732 |
0000078950 |
Cystic nephroma |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100733 |
0000078951 |
Medulloblastoma/infratentorial primitive neuroectodermal tumor |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100734 |
0000078952 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100735 |
0000078953 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100736 |
0000078954 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100737 |
0000078955 |
Bilateral Sertoli-Leydig cell tumours |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100738 |
0000078956 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100739 |
0000078957 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100740 |
0000078958 |
Wilms tumor, Multinodular goiter, bilateral Sertoli Leydig cell tumor |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100741 |
0000078959 |
Cystic nephroma |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100742 |
0000078960 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100743 |
0000078961 |
Intraocular medulloepithelioma |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100744 |
0000078962 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100745 |
0000078963 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100746 |
0000078964 |
Ovarian Sex chord stromal tumor |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100747 |
0000078965 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100748 |
0000078966 |
Sertoli Leydig cell tumor |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100749 |
0000078967 |
- |
- |
- |
Familial |
- |
- |
- |
- |
- |
LOVD |
00100750 |
0000078968 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100751 |
0000078969 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100752 |
0000078970 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100753 |
0000078971 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100754 |
0000078972 |
Anaplastic Sarcoma of kidney |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100755 |
0000078973 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100756 |
0000078974 |
Sertoli-Leydig tumours |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100757 |
0000078975 |
Nephroblastoma |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100758 |
0000078976 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100759 |
0000078977 |
Lung tumour |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100760 |
0000078978 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100761 |
0000078979 |
Bilateral Sertoli-Leydig cell tumours |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100762 |
0000078980 |
Gynandroblatoma |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100763 |
0000078981 |
Ovarian undifferentiated sarcoma, Sertoli-Leydig Cell Tumour (SLCT) |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100764 |
0000078982 |
Lung cyst, thyroid nodules, Sertoli-Leydig cell tumour |
- |
- |
Unknown |
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- |
- |
- |
- |
Nancy Hamel |
00100765 |
0000078983 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100766 |
0000078984 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100767 |
0000078985 |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
Nancy Hamel |
00100768 |
|
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