Phenotypes for disease #06956 (LAD (leukocyte adhesion deficiency))

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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

432 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000309243	leukocyte adhesion deficiency	LAD	see paper	Familial, autosomal recessive	03y	-	-	-	Johan den Dunnen	00417876
0000309245	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417878
0000309246	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417879
0000309247	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417880
0000309248	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417881
0000309249	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417882
0000309250	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417883
0000309251	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417884
0000309252	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417885
0000309253	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417886
0000309254	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417887
0000309255	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417888
0000309256	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417889
0000309257	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417890
0000309258	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417891
0000309259	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417892
0000309260	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417893
0000309261	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417894
0000309262	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417895
0000309263	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417896
0000309264	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417897
0000309265	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417898
0000309266	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417899
0000309267	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417900
0000309268	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417901
0000309269	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417902
0000309270	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417903
0000309271	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417904
0000309272	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417905
0000309273	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417906
0000309274	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417907
0000309275	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417908
0000309276	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417909
0000309277	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417910
0000309278	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417911
0000309279	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417912
0000309280	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417913
0000309281	leukocyte adhesion deficiency	LAD-I+	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417914
0000309282	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417915
0000309283	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417916
0000309284	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417917
0000309285	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417918
0000309286	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417919
0000309287	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417920
0000309288	leukocyte adhesion deficiency	LAD-I+/-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417921
0000309289	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417922
0000309290	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417923
0000309291	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417924
0000309292	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417925
0000309293	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417926
0000309294	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417927
0000309295	leukocyte adhesion deficiency	LAD-I0/-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417928
0000309296	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417929
0000309297	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417930
0000309298	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417931
0000309299	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417932
0000309300	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417933
0000309301	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417934
0000309302	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417935
0000309303	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417936
0000309304	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417937
0000309305	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417938
0000309306	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417939
0000309307	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417940
0000309308	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417941
0000309309	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417942
0000309310	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417943
0000309311	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417944
0000309312	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417945
0000309313	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417946
0000309314	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417947
0000309315	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417948
0000309316	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417949
0000309317	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417950
0000309318	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417951
0000309319	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417952
0000309320	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417953
0000309321	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417954
0000309322	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417955
0000309323	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417956
0000309324	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417957
0000309325	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417958
0000309326	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417959
0000309327	leukocyte adhesion deficiency	LAD-I0/-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417960
0000309328	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417961
0000309329	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417962
0000309330	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417963
0000309331	leukocyte adhesion deficiency	LAD-I0	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417964
0000309332	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417965
0000309333	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417966
0000309334	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417967
0000309335	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417968
0000309336	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417969
0000309337	leukocyte adhesion deficiency	LAD-I-	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417970
0000309338	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417971
0000309339	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417972
0000309340	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417973
0000309341	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417974
0000309342	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417975
0000309343	leukocyte adhesion deficiency	LAD-I?	-	Familial, autosomal recessive	-	-	-	-	Dirk Roos	00417976

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

Global Variome shared LOVD

B3GAT3 (beta-1,3-glucuronyltransferase 3 (glucuron...))