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
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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' |
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|
Legend |
How to query |

 Phenotype ID
|

 Phenotype details
|

 Diagnosis/Initial
|

 Diagnosis/Definite
|

 Inheritance
|

 Age/Examination
|

 Age/Diagnosis
|

 Age/Onset
|

 Phenotype/Onset
|

 Protein
|

 Owner
|

 Individual ID
|
0000201863 |
Persistent flat wart-like lesions and pityriasis versicolor-like lesions disseminated. BCC. |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264006 |
0000201865 |
Persistent flat wart-like lesions and pityriasis versicolor-like lesions disseminated. |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264008 |
0000201866 |
Flat warts. SCC and Bowen disease |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264010 |
0000201867 |
Flat warts on the upper limbs and trunk, few papules in hands. Bowenoid cancer and SCC |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264011 |
0000201868 |
Flat warts. SCC and Bowen disease |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264012 |
0000201870 |
Brown and pink verrucous plaques resembling flatwarts, multiple pink and dark brown palmar hyperkeratotic plaques. Maybe atypical psoriasis. |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264014 |
0000201871 |
Flat and brown patches; multiple flat-wart-like papules,sporadic brownish pityriasis versicolor-like lesions. SCC |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264015 |
0000201874 |
Papules. SCC. |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264018 |
0000201875 |
Brownish macules, flat warts, erythematous squamous and pigmented lesions,eruptions of pityriasis versicolor–like and scaly erythematous lesions. SCC, Bowenoid |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264020 |
0000201876 |
Numerous, occasionally confluent flatwarts, palmar hyperkeratosis,multiple ulcerated papules and nodules. Hyperpigmented plaques with verrucous surface and ulcerations and scaling with raised pearly borders. BCC, SCC which have metastasizedvto the bones of the lower extremities,necessitating amputation. |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264021 |
0000201878 |
Papules. SCC. |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264022 |
0000201879 |
Polymorphic skin lesions. SCC |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264023 |
0000201880 |
Flat warts, PV-like lesions, actinic keratoses. SCC. |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264024 |
0000201881 |
Small red macules like flat warts, lesions resembling pityriasis versicolor |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264025 |
0000201882 |
Persistent flat wart-like lesions and pityriasis versicolor-like lesions disseminated. |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264026 |
0000201883 |
Flat warts in hands and feet, tinea versicolor-like lesions on the face and neck |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264027 |
0000201884 |
Disseminated erythema-tous papules and plaques, some with scale and crust; several flat wartlike papule. SCC. BCC |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264028 |
0000201885 |
Plucked hair bulbs, AK, Bowenoid lesion. BCC, SCC |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264029 |
0000201886 |
Erythematous and hyperkeratotic plaques. Bowen disease, BCC, SCC |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264030 |
0000201887 |
Persistent flat wart-like lesions and pityriasis versicolor-like lesions disseminated. BCC and SCC |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264031 |
0000201888 |
Flat warts in hands and feet, tinea versicolor-like lesions on the face and neck. SCC and Basosquamous carcinoma |
- |
Epidermodysplasia verruciformis |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264032 |
0000203055 |
see paper; ... |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00265232 |
0000203056 |
see paper; ... |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00265233 |
0000203057 |
see paper; ... |
- |
EV-3 |
Familial, autosomal recessive |
42y |
- |
- |
- |
- |
Amir Hossein Saeidian |
00265234 |
0000203059 |
- |
- |
- |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Amir Hossein Saeidian |
00264005 |
|
Legend |
How to query |