Phenotypes for disease #02564 (NICCD (citrullinemia, type II, neonatal-onset (neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD))), OMIM:605814)

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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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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'

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71 entries on 1 page. Showing entries 1 - 71.

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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
0000088087	-	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00112523
0000088091	favorable clinical course, all biochemical abnormalities normalized at 12m	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00112527
0000088092	progressive, liver transplant at 10m	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00112528
0000088097	-	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00112533
0000088098	-	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00112534
0000105411	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00132647
0000105412	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00132623
0000105413	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00132648
0000105414	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00132649
0000105418	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00132652
0000105510	increased Citr, Met, Orn	-	-	Familial, autosomal recessive	00y00m94d	-	-	-	-	Johan den Dunnen	00132740
0000105511	increased level Met, Tyr, Pro	-	-	Familial, autosomal recessive	00y07m	-	-	-	-	Johan den Dunnen	00132741
0000105512	normal amino acid levels	-	-	Familial, autosomal recessive	00y05m10d	-	-	-	-	Johan den Dunnen	00132742
0000105513	increased level Citr, Met, Thr, Tyr, Phe, Lys, Arg	-	-	Familial, autosomal recessive	00y00m51d	-	-	-	-	Johan den Dunnen	00132743
0000105514	increased level Met, Tyr	-	-	Familial, autosomal recessive	00y00m53d	-	-	-	-	Johan den Dunnen	00132744
0000105515	increased level Citr	-	-	Familial, autosomal recessive	00y00m64d	-	-	-	-	Johan den Dunnen	00132745
0000105516	hyperammonemia, hypercitrullinemia, galactosemia	-	-	Familial, autosomal recessive	<00y01m	00y05m	-	-	-	Johan den Dunnen	00132746
0000105517	Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia	-	-	Familial, autosomal recessive	-	00y09m	<00y01m	-	-	Johan den Dunnen	00132747
0000105518	Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia	-	-	Familial, autosomal recessive	-	00y06m	<00y01m	-	-	Johan den Dunnen	00132748
0000105519	Hyperammonemia, hypercitrullinemia	-	-	Familial, autosomal recessive	-	00y05m	00y03m	cholestatic jaundice, gray-colored stool	-	Johan den Dunnen	00132749
0000105523	see paper; ...	-	-	Familial, autosomal recessive	-	-	00y00m02d	failed to thrive	-	Johan den Dunnen	00132753
0000105524	see paper; ...	-	-	Familial, autosomal recessive	-	-	00y01m	failure to thrive, jaundice	-	Johan den Dunnen	00132754
0000105525	severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 4y-healthy with no treatment	-	-	Familial, autosomal recessive	04y	-	00y00m40d	liver disease	-	Johan den Dunnen	00132755
0000105526	severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 2y-healthy with no treatment	-	-	Familial, autosomal recessive	02y	-	00y00m42d	liver disease	-	Johan den Dunnen	00132756
0000105527	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00132757
0000105528	see paper; ...	-	-	Familial, autosomal recessive	-	-	00y00m65d	hyperbilirubinemia	-	Johan den Dunnen	00132758
0000105529	see paper; ..., prolonged icterus, hepatocellular dysfunction, increased citrulline and dibasic amino acids in plasma and urine	-	-	Familial, autosomal recessive	-	-	00y00m70d	persistent jaundice	-	Johan den Dunnen	00132759
0000105532	see paper; ...	-	-	Familial, autosomal recessive	-	00y05m18d	-	-	-	Johan den Dunnen	00132762
0000105533	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00132763
0000321635	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431026
0000321637	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431028
0000321639	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431030
0000321641	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431032
0000321643	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431034
0000321644	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431035
0000321645	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431036
0000321646	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431037
0000321647	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431038
0000321649	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431040
0000321651	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431042
0000321652	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431043
0000321654	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431045
0000321656	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431047
0000321657	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431048
0000321659	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431050
0000321662	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431053
0000321664	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431055
0000321665	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431056
0000321668	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431059
0000321669	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431060
0000321671	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431062
0000321673	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431064
0000321676	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431067
0000321677	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431068
0000321678	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431069
0000321680	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431071
0000321682	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431073
0000321683	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431074
0000321685	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431076
0000321687	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431078
0000321689	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431080
0000321691	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431082
0000321692	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431083
0000321693	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431084
0000321694	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431085
0000321695	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431086
0000321697	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431088
0000321698	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431089
0000321699	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431090
0000321700	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431091
0000321701	-	neonatal intrahepatic cholestatichepatitis	NICCD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00431092

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