Phenotypes for disease #00190 (ARCI1 (ichthyosis, congenital, autosomal recessive, type 1 (ARCI-1)), OMIM:242300)

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

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.

140 entries on 2 pages. Showing entries 1 - 100.

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

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000001423	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002461
0000001438	ichthyosis, lamellar	-	-	Familial, autosomal recessive	10y	-	-	-	-	Michel van Geel	00002476
0000001439	ichthyosis, lamellar	-	-	Familial, autosomal recessive	01y	-	-	-	-	Michel van Geel	00002477
0000001440	ichthyosis, lamellar	-	-	Unknown	17y	-	-	-	-	Michel van Geel	00002478
0000001441	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002479
0000001442	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002480
0000001444	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002482
0000001445	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002483
0000001446	ichthyosis, lamellar	-	-	Familial, autosomal recessive	13y	-	-	-	-	Michel van Geel	00002484
0000001447	ichthyosis, lamellar	-	-	Familial, autosomal recessive	07y	-	-	-	-	Michel van Geel	00002485
0000001448	ichthyosis, lamellar	-	-	Familial, autosomal recessive	03y	-	-	-	-	Michel van Geel	00002486
0000001449	ichthyosis, lamellar	-	-	Familial, autosomal recessive	35y	-	-	-	-	Michel van Geel	00002487
0000001450	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002488
0000001452	ichthyosis, lamellar	-	-	Familial, autosomal recessive	00y02m	-	-	-	-	Michel van Geel	00002490
0000001453	ichthyosis, lamellar	-	-	Familial, autosomal recessive	00y02m	-	-	-	-	Michel van Geel	00002491
0000001454	ichthyosis, lamellar	-	-	Familial, autosomal recessive	00y02m	-	-	-	-	Michel van Geel	00002492
0000001455	ichthyosis, lamellar	-	-	Familial, autosomal recessive	02y	-	-	-	-	Michel van Geel	00002493
0000001457	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002495
0000001458	ichthyosis, lamellar	-	-	Familial, autosomal recessive	09y	-	-	-	-	Michel van Geel	00002496
0000001459	ichthyosis, lamellar	-	-	Familial, autosomal recessive	03y08m	-	-	-	-	Michel van Geel	00002497
0000001460	ichthyosis, lamellar	-	-	Familial, autosomal recessive	03y08m	-	-	-	-	Michel van Geel	00002498
0000001461	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002499
0000001462	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002500
0000001463	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002501
0000001464	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002502
0000001465	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002503
0000001466	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002504
0000001467	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002505
0000001468	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002506
0000001469	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002507
0000001470	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002508
0000001471	ichthyosis, lamellar	-	-	Familial, autosomal recessive	56y	-	-	-	-	Michel van Geel	00002509
0000001472	ichthyosis, lamellar	-	-	Familial, autosomal recessive	56y	-	-	-	-	Michel van Geel	00002510
0000001473	ichthyosis, lamellar	-	-	Familial, autosomal recessive	00y01m	-	-	-	-	Michel van Geel	00002511
0000001474	ichthyosis, lamellar	-	-	Familial, autosomal recessive	00y06m	-	-	-	-	Michel van Geel	00002512
0000001475	ichthyosis, lamellar	-	-	Familial, autosomal recessive	33y	-	-	-	-	Michel van Geel	00002513
0000001476	ichthyosis, lamellar	-	-	Familial, autosomal recessive	20y	-	-	-	-	Michel van Geel	00002514
0000001477	ichthyosis, lamellar	-	-	Familial, autosomal recessive	20y	-	-	-	-	Michel van Geel	00002515
0000001479	ichthyosis, congenital, autosomal recessive	-	-	Familial, autosomal recessive	06y	-	00y00m	-	-	Michel van Geel	00002517
0000001480	ichthyosis, congenital, autosomal recessive	-	-	Familial, autosomal recessive	06y	-	00y00m	-	-	Michel van Geel	00002518
0000001481	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002519
0000001482	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002520
0000001483	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002521
0000001486	ichthyosis, bathing suit	-	-	Familial, autosomal recessive	35y	-	-	-	-	Michel van Geel	00002524
0000001487	ichthyosis, bathing suit	-	-	Familial, autosomal recessive	02y	-	-	-	-	Michel van Geel	00002525
0000001489	ichthyosis, bathing suit	-	-	Familial, autosomal recessive	14y	-	-	-	-	Michel van Geel	00002527
0000001545	ichthyosis, lamellar	-	-	Isolated (sporadic)	-	-	-	-	-	Michel van Geel	00002583
0000001546	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002584
0000001547	ichthyosis, lamellar	-	-	Isolated (sporadic)	-	-	-	-	-	Michel van Geel	00002585
0000001584	-	-	-	Familial, autosomal recessive	31y	-	-	-	-	Michel van Geel	00002623
0000001585	-	-	-	Familial, autosomal recessive	28y	-	-	-	-	Michel van Geel	00002624
0000001586	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002625
0000001587	-	-	-	Familial, autosomal recessive	62y	-	-	-	-	Michel van Geel	00002626
0000001588	-	-	-	Familial, autosomal recessive	02y	-	-	-	-	Michel van Geel	00002627
0000001589	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002628
0000001590	-	-	-	Familial, autosomal recessive	62y	-	-	-	-	Michel van Geel	00002630
0000001591	-	-	-	Familial, autosomal recessive	02y	-	-	-	-	Michel van Geel	00002631
0000001593	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002632
0000001594	-	-	-	Familial, autosomal recessive	01y	-	-	-	-	Michel van Geel	00002633
0000001595	-	-	-	Familial, autosomal recessive	01y	-	-	-	-	Michel van Geel	00002634
0000001596	-	-	-	Familial, autosomal recessive	11y	-	-	-	-	Michel van Geel	00002635
0000001597	-	-	-	Familial, autosomal recessive	11y	-	-	-	-	Michel van Geel	00002636
0000001598	-	-	-	Familial, autosomal recessive	25y	-	-	-	-	Michel van Geel	00002637
0000001599	-	-	-	Familial, autosomal recessive	10y	-	-	-	-	Michel van Geel	00002638
0000001600	-	-	-	Familial, autosomal recessive	17y	-	-	-	-	Michel van Geel	00002639
0000001601	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00002640
0000001909	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003061
0000001910	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003062
0000001911	-	-	-	Familial, autosomal recessive	13y	-	-	-	-	Michel van Geel	00003063
0000001912	ichthyosis, lamellar	-	-	Familial, autosomal recessive	01y	-	-	-	-	Michel van Geel	00003064
0000001913	ichthyosis, lamellar	-	-	Familial, autosomal recessive	33y	-	-	-	-	Michel van Geel	00003065
0000001914	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003066
0000001916	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003067
0000001917	ichthyosis, lamellar	-	-	Familial, autosomal recessive	06y	-	-	-	-	Michel van Geel	00003068
0000001918	ichthyosis, lamellar	-	-	Familial, autosomal recessive	35y	-	-	-	-	Michel van Geel	00003069
0000001919	ichthyosis, lamellar	-	-	Familial, autosomal recessive	05y	-	-	-	-	Michel van Geel	00003070
0000001920	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003072
0000001922	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003077
0000001923	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003078
0000001927	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003085
0000001928	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003086
0000001929	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003087
0000001930	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003088
0000001931	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003089
0000001932	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003090
0000001933	ichthyosis, lamellar	-	-	Familial, autosomal recessive	02y	-	-	-	-	Michel van Geel	00003091
0000001934	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003092
0000001936	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003118
0000001937	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003119
0000001961	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003134
0000001962	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003135
0000001963	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003136
0000001964	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003137
0000001965	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003138
0000001966	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003139
0000001967	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003140
0000001968	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003141
0000001969	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003142
0000001970	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003143
0000001971	ichthyosis, lamellar	-	-	Familial, autosomal recessive	-	-	-	-	-	Michel van Geel	00003144

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

Global Variome shared LOVD

FLI1 (Friend leukemia virus integration 1)