Phenotypes for disease #01662 (argininemia (argininemia), OMIM:207800)

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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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107 entries on 2 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
0000086065	response dietary therapy good	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00108469
0000086066	response dietary therapy slow	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00108471
0000086067	response dietary therapy good	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00108472
0000086068	mental retardation, microcephaly, spastic tetraplegia, intermittent convulsions	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00108478
0000086069	psychomotor retardation and spastic tetraplegia	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00108481
0000086070	response dietary therapy good	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00108482
0000086071	psychomotor retardation and spastic tetraplegia	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00108484
0000297159	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	newborn screening	-	Johan den Dunnen	00404574
0000297160	see paper; ..., argininemia, progressive spastic diplegia	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404576
0000297161	see paper; ..., 6w-lethargy, poor feeding, severe encephalopathy caused by hyperammonemia; cerebral edema, seizures, spasticity, mild developmental delay	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404577
0000297162	see paper; ..., learning difficulties, spastic diplegia, controlled seizures,mild recurrent hyperammonemic episodes	argininemia	-	Familial, autosomal recessive	-	11y	03y	-	-	Johan den Dunnen	00404578
0000297163	see paper; ..., learning difficulties, spastic diplegia, seizures, recurrent hyperammonemic episodes	argininemia	-	Familial, autosomal recessive	-	-	08y	-	-	Johan den Dunnen	00404579
0000297164	see paper; ..., developmental delay, spastic diplegia, seizures, recurrent hyperammonemic episodes	argininemia	-	Familial, autosomal recessive	-	-	05y	-	-	Johan den Dunnen	00404580
0000297165	see paper; ..., severe developmental delay, spastic diplegia, no seizures, no hyperammonemic episodes	argininemia	-	Familial, autosomal recessive	39y	-	-	-	-	Johan den Dunnen	00404581
0000297166	see paper; ..., learning difficulties, spastic diplegia, no seizures, recurrent hyperammonemic episodes	argininemia	-	Familial, autosomal recessive	-	-	11y	-	-	Johan den Dunnen	00404582
0000297167	see paper; ..., learning difficulties, spastic diplegia, seizures, two hyperammonemic episodes	argininemia	-	Familial, autosomal recessive	-	-	05y	-	-	Johan den Dunnen	00404583
0000297168	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	00y00m36d	-	-	Johan den Dunnen	00404584
0000297169	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	00y00m21d	-	-	Johan den Dunnen	00404585
0000297170	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	00y00m23d	-	-	Johan den Dunnen	00404586
0000297172	see paper; ..., spastic paraplegia, weakness bilateral lower limbs, tip-toeing gait	argininemia	-	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00404588
0000297173	see paper; ..., spastic gait, intellectual disability, seizures	argininemia	-	Familial, autosomal recessive	20y	-	-	-	-	Johan den Dunnen	00404589
0000297175	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404600
0000297176	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404601
0000297177	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404602
0000297178	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404603
0000297179	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404604
0000297180	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404605
0000297181	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404606
0000297182	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404607
0000297183	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404608
0000297184	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404609
0000297185	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404610
0000297186	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404611
0000297187	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404612
0000297188	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404613
0000297189	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404614
0000297190	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404615
0000297191	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404616
0000297192	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404617
0000297193	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404618
0000297194	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404619
0000297195	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404620
0000297196	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404621
0000297197	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404622
0000297198	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404623
0000297199	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404624
0000297200	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404625
0000297201	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404626
0000297202	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404627
0000297203	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404628
0000297204	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404629
0000297205	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404630
0000297206	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404631
0000297207	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404632
0000297208	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404633
0000297209	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404634
0000297210	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404635
0000297211	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404636
0000297212	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404637
0000297213	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404638
0000297214	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404639
0000297215	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404640
0000297216	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404641
0000297217	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404642
0000297218	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404643
0000297219	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404644
0000297220	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404645
0000297221	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404646
0000297222	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404647
0000297223	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404648
0000297224	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404649
0000297225	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404650
0000297226	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404651
0000297227	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404652
0000297228	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404653
0000297229	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404654
0000297230	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404655
0000297231	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404656
0000297232	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404657
0000297233	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404658
0000297234	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404659
0000297235	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404660
0000297236	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404661
0000297237	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404662
0000297238	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404663
0000297239	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404664
0000297243	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404668
0000297244	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404669
0000297245	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404670
0000297246	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404671
0000297247	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404672
0000297248	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404673
0000297249	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404674
0000297250	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404675
0000297251	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404676
0000297252	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404677
0000297253	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404678
0000297254	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404679
0000297255	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404680
0000297256	see paper; ...	argininemia	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00404681

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Global Variome shared LOVD

AQR (aquarius homolog (mouse))