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
Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)
Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
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
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' |
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When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
|
|
Legend |
How to query |
 Phenotype ID
|
 Diagnosis/Initial
|
Diagnosis/Definite
|
Phenotype details
|
Inheritance
|
Age/Examination
|
Age/Diagnosis
|
Age/Onset
|
Phenotype/Onset
|
Owner
|
Individual ID
|
| 0000267342 |
syndromic neutropenia, Shwachman-Diamond–like features |
SCN8 |
see paper; ... |
Isolated (sporadic) |
6y |
- |
- |
- |
Johan den Dunnen |
00372004 |
| 0000267343 |
syndromic neutropenia, Shwachman-Diamond–like features |
SCN8 |
see paper; ... |
Isolated (sporadic) |
16m |
- |
- |
- |
Johan den Dunnen |
00372005 |
| 0000267344 |
syndromic neutropenia, Shwachman-Diamond–like features |
SCN8 |
see paper; ... |
Isolated (sporadic) |
18y |
- |
- |
- |
Johan den Dunnen |
00372006 |
| 0000267345 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 270 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Isolated (sporadic) |
8y |
9m24d |
- |
- |
Johan den Dunnen |
00372007 |
| 0000267346 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 443 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Isolated (sporadic) |
3y |
4m18d |
- |
- |
Johan den Dunnen |
00372008 |
| 0000267347 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 440 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Familial, autosomal dominant |
15y |
1m21d |
- |
- |
Johan den Dunnen |
00372009 |
| 0000267348 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 100 ANCs (per ul) before G-CSF therapy; no severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); no G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Unknown |
44y |
2y1m |
- |
- |
Johan den Dunnen |
00372010 |
| 0000267349 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 190 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; intellectual disability, autism spectrum disorder (father with severe neuropsychiatric disorder); no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Unknown |
11y |
10m21d |
- |
- |
Johan den Dunnen |
00372011 |
| 0000267350 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 530 ANCs (per ul) before G-CSF therapy; no severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; 31y-osteoporosis, type 2 diabetes |
Isolated (sporadic) |
32y |
5y |
- |
- |
Johan den Dunnen |
00372012 |
| 0000267351 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 45 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Isolated (sporadic) |
10y |
2d |
- |
- |
Johan den Dunnen |
00372013 |
| 0000267352 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 120 ANCs (per ul) before G-CSF therapy; no severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Isolated (sporadic) |
15y |
10m3d |
- |
- |
Johan den Dunnen |
00372014 |
| 0000267353 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 250 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; intra-uterine growth retardation, GH deficiency, GH therapy (final height 1.69 m) |
Isolated (sporadic) |
24y |
1m |
- |
- |
Johan den Dunnen |
00372015 |
| 0000267354 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 230 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Unknown |
11y |
4m6d |
- |
- |
Johan den Dunnen |
00372016 |
| 0000267355 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 360 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Isolated (sporadic) |
7y |
12m21d |
- |
- |
Johan den Dunnen |
00372017 |
| 0000267356 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 90 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Isolated (sporadic) |
39y |
1y4m |
- |
- |
Johan den Dunnen |
00372018 |
| 0000267357 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 100 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Isolated (sporadic) |
3y |
1d |
- |
- |
Johan den Dunnen |
00372019 |
| 0000267358 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 110 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Familial, autosomal dominant |
6y |
10d |
- |
- |
Johan den Dunnen |
00372020 |
| 0000267359 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 345 ANCs (per ul) before G-CSF therapy; no severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); no G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Familial, autosomal dominant |
28y |
20y |
- |
- |
Johan den Dunnen |
00372021 |
| 0000267360 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 435 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; intermittent maturation arrest on bone marrow smear (before G-CSF therapy) ; G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Familial, autosomal dominant |
17y |
4m6d |
- |
- |
Johan den Dunnen |
00372022 |
| 0000267361 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 960 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; intermittent maturation arrest on bone marrow smear (before G-CSF therapy) ; G-CSF therapy; learning difficulties, attending special school; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Isolated (sporadic) |
46y |
2m24d |
- |
- |
Johan den Dunnen |
00372023 |
| 0000267362 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 1090 ANCs (per ul) before G-CSF therapy; no severe bacterial infections; no stomatitis gingivitis; no maturation arrest on bone marrow smear (before G-CSF therapy); no G-CSF therapy; learning difficulties, attending special school; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Familial, autosomal dominant |
21y |
8m9d |
- |
- |
Johan den Dunnen |
00372024 |
| 0000267363 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 215 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Isolated (sporadic) |
6y |
24d |
- |
- |
Johan den Dunnen |
00372025 |
| 0000267364 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 144 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay, dysmorphy; no exocrine pancreatic insufficiency; short stature (final height1.48 m), obesity |
Unknown |
32y |
2m27d |
- |
- |
Johan den Dunnen |
00372026 |
| 0000267365 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 106 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay, extreme delayed speech; exocrine pancreatic insufficiency (lipomatosis); intra-uterine growth retardation |
Isolated (sporadic) |
43y |
9m |
- |
- |
Johan den Dunnen |
00372027 |
| 0000267366 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 220 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay, epilepsy; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms |
Isolated (sporadic) |
1y6m |
15d |
- |
- |
Johan den Dunnen |
00372028 |
| 0000267367 |
severe congenital neutropenia |
SCN8 |
see paper; ..., 92 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay, extreme delayed speech; exocrine pancreatic insufficiency (lipomatosis); intra-uterine growth retardation, short stature (final height 1.53 m), bone dysplasia |
Isolated (sporadic) |
25y7m |
1m |
- |
- |
Johan den Dunnen |
00372029 |
|
|
Legend |
How to query |
