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

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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

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

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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

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Global Variome shared LOVD

ATP7B (ATPase, Cu++ transporting, beta polypeptide)