Phenotypes for disease #01826 (GSD6 (storage disease, glycogen, type VI (GSD6)), OMIM:232700)

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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
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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

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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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59 entries on 1 page. Showing entries 1 - 59.

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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
0000073636	-	-	GSD-6	Familial, autosomal recessive	-	02y	01y	HP:0002240	-	Wenjuan Qiu	00095239
0000073637	-	-	GSD-6	Familial, autosomal recessive	-	02y03m	01y04m	HP:0002240	-	Wenjuan Qiu	00095240
0000073639	-	-	GSD-6	Familial, autosomal recessive	-	02y	01y05m	HP:0002240	-	Wenjuan Qiu	00095242
0000073640	-	-	GSD-6	Familial, autosomal recessive	-	02y08m	01y	HP:0002240	-	Wenjuan Qiu	00095245
0000073641	-	-	GSD-6	Familial, autosomal recessive	-	03y07m	01y05m	HP:0002240	-	Wenjuan Qiu	00095246
0000073642	-	-	-	Familial, autosomal recessive	02y	02y	01y	HP:0002240	-	Wenjuan Qiu	00095247
0000073643	-	-	GSD-6	Familial, autosomal recessive	-	02y02m	01y08m	HP:0002240	-	Wenjuan Qiu	00095248
0000073644	-	-	GSD-6	Familial, autosomal recessive	-	02y08m	01y	HP:0002240	-	Wenjuan Qiu	00095249
0000073645	-	-	GSD-6	Familial, autosomal recessive	-	05y02m	02y	HP:0002240	-	Wenjuan Qiu	00095250
0000073646	-	-	GSD-6	Familial, autosomal recessive	-	02y02m	01y09m	HP:0002240	-	Wenjuan Qiu	00095251
0000073647	-	-	GSD-6	Familial, autosomal recessive	-	01y10m	01y	HP:0002240	wjqiu	Wenjuan Qiu	00095252
0000073648	-	-	GSD-6	Familial, autosomal recessive	-	04y10m	02y	HP:0002240	-	Wenjuan Qiu	00095253
0000073664	-	-	GSD-6	Familial, autosomal recessive	-	03y05m	01y05m	HP:0002240	-	Wenjuan Qiu	00095268
0000073665	-	-	GSD-6	Familial, autosomal recessive	-	02y05m	01y06m	HP:0002240	-	Wenjuan Qiu	00095269
0000073666	-	-	GSD-6	Familial, autosomal recessive	-	01y06m	00y06m	HP:0002240	-	Wenjuan Qiu	00095270
0000073668	-	-	GSD-6	Familial, autosomal recessive	-	02y06m	02y	HP:0002240	-	Wenjuan Qiu	00095271
0000073669	-	-	GSD-6	Familial, autosomal recessive	-	04y05m	02y	HP:0002240	-	Wenjuan Qiu	00095272
0000073670	-	-	GSD-6	Familial, autosomal recessive	-	01y06m	00y06m	HP:0002240	-	Wenjuan Qiu	00095273
0000073671	-	-	GSD-6	Familial, autosomal recessive	-	01y11m	01y06m	HP:0002240	-	Wenjuan Qiu	00095274
0000073672	-	-	GSD-6	Familial, autosomal recessive	-	02y02m	01y	HP:0002240	-	Wenjuan Qiu	00095275
0000073673	-	-	GSD-6	Familial, autosomal recessive	-	04y05m	02y05m	HP:0002240	-	Wenjuan Qiu	00095276
0000073708	-	-	GSD-6	Familial, autosomal recessive	-	05y04m	02y	HP:0002240	-	Wenjuan Qiu	00095311
0000073710	-	-	GSD-6	Familial, autosomal recessive	-	06y04m	02y	HP:0002240	-	Wenjuan Qiu	00095312
0000073711	-	-	GSD-6	Familial, autosomal recessive	-	05y02m	03y05m	HP:0002240	-	Wenjuan Qiu	00095313
0000073712	-	-	GSD-6	Familial, autosomal recessive	-	05y06m	01y	HP:0002240	-	Wenjuan Qiu	00095314
0000073713	-	-	GSD-6	Familial, autosomal recessive	-	01y07m	01y	HP:0002240	-	Wenjuan Qiu	00095315
0000073714	-	-	-	Familial, autosomal recessive	09y09m	09y09m	02y	hepatomegaly	-	Wenjuan Qiu	00095316
0000073715	-	-	GSD-6	Familial, autosomal recessive	-	05y	02y	HP:0002240	-	Wenjuan Qiu	00095317
0000073716	-	-	GSD-6	Familial, autosomal recessive	-	04y06m	02y	HP:0002240	-	Wenjuan Qiu	00095318
0000125983	-	-	GSD-6	Familial, autosomal recessive	-	03y06m	02y	HP:0002240	-	Wenjuan Qiu	00153302
0000125984	-	-	GSD-6	Familial, autosomal recessive	-	03y01m	02y	HP:0002240	-	Wenjuan Qiu	00153303
0000125985	-	-	GSD-6	Familial, autosomal recessive	-	05y05m	02y	HP:0002240	-	Wenjuan Qiu	00153304
0000223066	see paper; ...	GSD-6	GSD-6	Familial, autosomal recessive	02y01m	02y02m	02y	HP:0002240	-	Wenjuan Qiu	00295495
0000223082	see paper; ...	metabolic liver disease	GSD-6	Familial, autosomal recessive	02y01m	01y06m	01y02m	HP:0004322	-	Wenjuan Qiu	00295511
0000247318	-	-	GSD-6	Familial, autosomal recessive	-	03y04m	03y	HP:0002240	-	Wenjuan Qiu	00329120
0000247319	-	-	GSD-6	Familial, autosomal recessive	-	01y04m	01y	HP:0002240	-	Wenjuan Qiu	00329121
0000247320	-	-	GSD-6	Familial, autosomal recessive	-	03y07m	02y	HP:0002240	-	Wenjuan Qiu	00329122
0000247321	-	-	GSD-6	Familial, autosomal recessive	-	10y06m	-	HP:0002240	-	Wenjuan Qiu	00329123
0000247322	-	-	GSD-6	Familial, autosomal recessive	-	03y04m	?	-	-	Wenjuan Qiu	00329124
0000247323	-	-	GSD-6	Familial, autosomal recessive	-	01y08m	01y	HP:0002240	-	Wenjuan Qiu	00329125
0000247324	-	-	GSD-6	Familial, autosomal recessive	-	01y06m	?	HP:0002240	-	Wenjuan Qiu	00329126
0000247325	-	-	GSD-6	Familial, autosomal recessive	-	04y02m	?	HP:0002240	-	Wenjuan Qiu	00329127
0000247326	-	-	GSD-6	Familial, autosomal recessive	-	02y	-	HP:0002240	-	Wenjuan Qiu	00329128
0000247327	-	-	GSD-6	Familial, autosomal recessive	-	02y04m	?	HP:0002240	-	Wenjuan Qiu	00329129
0000247334	-	-	GSD-6	Familial, autosomal recessive	-	02y01m	01y	HP:0002240	-	Wenjuan Qiu	00329138
0000247335	-	-	GSD-6	Familial, autosomal recessive	-	01y06m	01y04m	HP:0002240	-	Wenjuan Qiu	00329139
0000247336	-	-	GSD-6	Familial, autosomal recessive	-	01y09m	01y06m	HP:0002240	-	Wenjuan Qiu	00329140
0000247337	-	-	GSD-6	Familial, autosomal recessive	-	02y06m	02y06m	HP:0002240	-	Wenjuan Qiu	00329141
0000247338	-	-	GSD-6	Familial, autosomal recessive	-	03y01m	?	HP:0002240	-	Wenjuan Qiu	00329142
0000247339	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Wenjuan Qiu	00329142
0000247354	-	-	GSD-6	Familial, autosomal recessive	-	04y05m	?	HP:0002240	-	Wenjuan Qiu	00329143
0000247355	-	-	GSD-6	Familial, autosomal recessive	-	02y04m	02y01m	HP:0002240	-	Wenjuan Qiu	00329144
0000247356	-	-	GSD-6	Familial, autosomal recessive	-	03y10m	02y	HP:0002240	-	Wenjuan Qiu	00329145
0000247357	-	-	GSD-6	Familial, autosomal recessive	-	03y04m	?	HP:0002240	-	Wenjuan Qiu	00329146
0000247358	-	-	GSD-6	Familial, autosomal recessive	-	03y10m	-	HP:0002240	-	Wenjuan Qiu	00329147
0000247359	-	-	GSD-6	Familial, autosomal recessive	-	03y11m	01y	HP:0002240	-	Wenjuan Qiu	00329148
0000247360	-	-	GSD-6	Familial, autosomal recessive	-	03y01m	?	HP:0002240	-	Wenjuan Qiu	00329149
0000272275	-	-	GSD-6	Familial, autosomal recessive	-	02y01m	-	HP:0002240	-	Wenjuan Qiu	00377088
0000272276	-	-	GSD-6	Familial, autosomal recessive	-	03y01m	-	HP:0002240	-	Wenjuan Qiu	00377089

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