Phenotypes for disease #05811 (Crigler-Najjar (Crigler-Najjar syndrome))

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.

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

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

Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000233146	Crigler-Najjar syndrome	-	unconjugated hyperbilirubinemia but additionally biliary liver cirrhosis	Familial, autosomal recessive	15y	-	-	-	Johan den Dunnen	00307432
0000233147	Crigler-Najjar syndrome	-	unconjugated hyperbilirubinemia but additionally elevated liver enzymes	Familial, autosomal recessive	5y	-	-	-	Johan den Dunnen	00307433
0000233148	Crigler-Najjar syndrome	-	unconjugated hyperbilirubinemia but additionally elevated liver enzymes	Familial, autosomal recessive	15y	-	-	-	Johan den Dunnen	00307434
0000233149	Crigler-Najjar syndrome	-	unconjugated hyperbilirubinemia but additionally elevated liver enzymes	Familial, autosomal recessive	1y	-	-	-	Johan den Dunnen	00307435
0000233150	Crigler-Najjar syndrome	-	unconjugated hyperbilirubinemia but additionally elevated liver enzymes	Familial, autosomal recessive	5y	-	-	-	Johan den Dunnen	00307436
0000319581	Crigler-Najjar syndrome	CN1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428676
0000319586	Crigler-Najjar syndrome	CN1	see paper; ...	Familial, autosomal recessive	13y	-	-	-	Johan den Dunnen	00428681
0000319587	Crigler-Najjar syndrome	CN1	see paper; ...	Familial, autosomal recessive	08y	-	-	-	Johan den Dunnen	00428682
0000319588	Crigler-Najjar syndrome	CN1	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428683
0000319589	Crigler-Najjar syndrome	CN1	see paper; ...	Familial, autosomal recessive	01y	-	-	-	Johan den Dunnen	00428684
0000319591	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	58y	-	-	-	Johan den Dunnen	00428692
0000319592	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	60y	-	-	-	Johan den Dunnen	00428693
0000319593	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	74y	-	-	-	Johan den Dunnen	00428694
0000319594	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	53y	-	-	-	Johan den Dunnen	00428695
0000319595	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	74y	-	-	-	Johan den Dunnen	00428696
0000319596	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	51y	-	-	-	Johan den Dunnen	00428697
0000319597	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	19y	-	-	-	Johan den Dunnen	00428698
0000319600	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428701
0000319601	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428702
0000319602	Crigler-Najjar syndrome	CN2	see paper; ..., deep hyperbilirubinemia	Familial, autosomal recessive	22y	-	-	-	Johan den Dunnen	00428703
0000319604	Crigler-Najjar syndrome	CN2	see paper; ..., jaundice since birth	Familial, autosomal recessive	104	-	-	-	Johan den Dunnen	00428706
0000319605	Crigler-Najjar syndrome	CN1	see paper; ..., cerebellar symptoms, intellectual disability (IQ 80); successful liver transplant	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428707
0000319606	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428708
0000319607	Crigler-Najjar syndrome	CN1	see paper; ..., cerebellar symptoms, intellectual disability (IQ 80)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428709
0000319608	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428710
0000319609	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428711
0000319610	Crigler-Najjar syndrome	CN1	see paper; ..., dysarthria, seizures	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428712
0000319611	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428713
0000319612	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428714
0000319613	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428715
0000319614	Crigler-Najjar syndrome	CN1	see paper; ..., cerebellar symptoms, intellectual disability (IQ 80)	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428716
0000319615	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428717
0000319616	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428718
0000319617	Crigler-Najjar syndrome	CN1	see paper; ..., died, kernicterus	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428719
0000319618	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	01y	-	-	-	Johan den Dunnen	00428720
0000319619	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428721
0000319620	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428722
0000319621	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428723
0000319622	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428725
0000319624	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428726
0000319625	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428727
0000319626	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428728
0000319627	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428729
0000319634	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428736
0000319635	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428737
0000319642	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428744
0000319643	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428745
0000319644	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428746
0000319645	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428747
0000319646	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428748
0000319647	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428749
0000319648	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428750
0000319649	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428765
0000319650	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428766
0000319660	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428776
0000319661	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428777
0000319662	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428778
0000319663	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428779
0000319664	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428780
0000319665	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428781
0000319666	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428782
0000319667	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428783
0000319668	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428784
0000319669	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428785
0000319670	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428786
0000319671	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428787
0000319683	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00428799
0000321029	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430157
0000321038	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430230
0000321039	Crigler-Najjar syndrome	CN2	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430231
0000321040	Crigler-Najjar syndrome	CN1	see paper	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430232
0000321041	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430233
0000321042	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430234
0000321043	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430235
0000321044	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430236
0000321045	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430237
0000321046	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430238
0000321047	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430239
0000321048	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430240
0000321049	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430241
0000321050	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430242
0000321051	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430243
0000321052	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430244
0000321053	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430245
0000321054	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430246
0000321055	Crigler-Najjar syndrome	CN1	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430247
0000321056	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430248
0000321057	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430249
0000321058	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430250
0000321059	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430251
0000321060	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430252
0000321061	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430253
0000321062	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430254
0000321063	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430255
0000321064	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430256
0000321065	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430257
0000321066	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430258
0000321067	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430259
0000321068	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430260
0000321069	Crigler-Najjar syndrome	CN2	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00430261

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

Global Variome shared LOVD

VWF (von Willebrand factor)