Global Variome shared LOVD
POMGNT1 (protein O-linked mannose beta1,2-N-acetylg...)
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Curator:
Johan den Dunnen
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Phenotypes for disease #01497 (BCPM;HHD (pemphigus, chronic, benign (BCPM, Hailey-Hailey disease (HHD))), OMIM:169600)
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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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!fs
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Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
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all entries ending with 'Ser)'
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
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Date
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Date
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all entries before the year 2020
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Date
<=2020-06
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Date
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Date
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all entries on or after June 15th, 2020
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Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
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all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
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Numeric
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all entries not exactly matching 23
<
Numeric
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all entries lower than 23
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Numeric
<=23
all entries lower than, or equal to, 23
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Numeric
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all entries higher than 23
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Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
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all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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all entries containing 'Asian' but not containing 'Caucasian'
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
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all entries containing 'South Asian', but not containing 'South East Asian'
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226 entries on 3 pages. Showing entries 1 - 100.
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Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
0000041731
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055076
0000041732
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055077
0000041733
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055078
0000041734
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055079
0000041735
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055080
0000041736
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055081
0000041737
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055082
0000041738
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055083
0000041739
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055084
0000041740
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
29y
-
-
Michel van Geel
00055085
0000041741
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055086
0000041742
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055087
0000041743
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055088
0000041744
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055089
0000041745
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055090
0000041746
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055091
0000041747
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055092
0000041748
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
36y
-
-
Michel van Geel
00055093
0000041749
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055094
0000041750
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055095
0000041751
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055096
0000041752
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055097
0000041753
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055098
0000041754
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055099
0000041755
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055100
0000041756
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055101
0000041757
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055102
0000041758
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055103
0000041759
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055104
0000041760
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055105
0000041761
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055106
0000041762
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055107
0000041763
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055108
0000041764
Hailey-Hailey disease
-
-
Familial
-
-
>21y
-
-
Michel van Geel
00055109
0000041765
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055110
0000041766
Hailey-Hailey disease
-
-
Familial
-
-
>21y
-
-
Michel van Geel
00055111
0000041767
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055112
0000041768
Hailey-Hailey disease
-
-
Unknown
-
-
>21y
-
-
Michel van Geel
00055113
0000041769
Hailey-Hailey disease
-
-
Familial
-
-
>31y
-
-
Michel van Geel
00055114
0000041770
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055115
0000041771
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055116
0000041772
Hailey-Hailey disease
-
-
Familial
-
-
>50y
-
-
Michel van Geel
00055117
0000041773
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055118
0000041774
Hailey-Hailey disease
-
-
Familial
-
-
>21y
-
-
Michel van Geel
00055119
0000041775
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055120
0000041776
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
54y
38y
-
-
Michel van Geel
00055121
0000041777
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
70y
40y
-
-
Michel van Geel
00055122
0000041778
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
58y
40y
-
-
Michel van Geel
00055123
0000041779
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055124
0000041780
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055125
0000041781
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
52y
-
-
Michel van Geel
00055126
0000041782
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055127
0000041783
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
42y
-
-
Michel van Geel
00055128
0000041784
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055129
0000041785
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055130
0000041786
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055131
0000041787
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055132
0000041788
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055133
0000041789
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
40y
30y
-
-
Michel van Geel
00055134
0000041790
Hailey-Hailey disease
-
-
Familial
-
38y
24y
-
-
Michel van Geel
00055135
0000041791
Hailey-Hailey disease
-
-
Familial
-
46y
22y
-
-
Michel van Geel
00055136
0000041792
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055137
0000041793
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055138
0000041794
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055139
0000041795
Type 2 segmental Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055140
0000041796
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
57y
31y
-
-
Michel van Geel
00055141
0000041797
Hailey-Hailey disease
-
-
Familial
-
54y
42y
-
-
Michel van Geel
00055142
0000041798
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
32y
30y
-
-
Michel van Geel
00055143
0000041799
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
48y
41y
-
-
Michel van Geel
00055144
0000041800
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
59y
40y
-
-
Michel van Geel
00055145
0000041801
Hailey-Hailey disease
-
-
Unknown
-
-
-
-
-
Michel van Geel
00055146
0000041802
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055147
0000041803
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055148
0000041804
Hailey-Hailey disease
-
-
Familial
-
41y
21y
-
-
Michel van Geel
00055149
0000041805
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
51y
40y
-
-
Michel van Geel
00055150
0000041806
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
56y
29y
-
-
Michel van Geel
00055151
0000041807
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055152
0000041808
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055153
0000041809
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055154
0000041810
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055155
0000041811
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055156
0000041812
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055157
0000041813
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055158
0000041814
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
-
-
-
-
Michel van Geel
00055159
0000041815
Hailey-Hailey disease
-
-
Familial
-
-
-
-
-
Michel van Geel
00055160
0000041816
Hailey-Hailey disease
-
-
Familial
-
45y
52y
-
-
Michel van Geel
00055161
0000041817
Hailey-Hailey disease
-
-
Familial
-
30y
38y
-
-
Michel van Geel
00055162
0000041818
Hailey-Hailey disease
-
-
Familial
-
51y
27y
-
-
Michel van Geel
00055163
0000041819
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
57y
50y
-
-
Michel van Geel
00055164
0000041820
Hailey-Hailey disease
-
-
Familial
-
44y
20y
-
-
Michel van Geel
00055165
0000041821
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
55y
20y
-
-
Michel van Geel
00055166
0000041822
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
47y
30y
-
-
Michel van Geel
00055167
0000041823
Hailey-Hailey disease
-
-
Familial
-
62y
40y
-
-
Michel van Geel
00055168
0000041824
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
58y
40y
-
-
Michel van Geel
00055169
0000041825
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
58y
-
-
-
Michel van Geel
00055170
0000041826
Hailey-Hailey disease
-
-
Familial
-
42y
37y
-
-
Michel van Geel
00055171
0000041827
Hailey-Hailey disease
-
-
Familial
-
42y
17y
-
-
Michel van Geel
00055172
0000041828
Hailey-Hailey disease
-
-
Familial
-
40y
17y
-
-
Michel van Geel
00055173
0000041829
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
53y
31y
-
-
Michel van Geel
00055174
0000041830
Hailey-Hailey disease
-
-
Isolated (sporadic)
-
45y
30y
-
-
Michel van Geel
00055175
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