Phenotypes for disease #05288 (DIAR (diarrhea (DIAR)))

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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/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

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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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91 entries on 1 page. Showing entries 1 - 91.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000129346	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164236
0000129347	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164237
0000129348	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164238
0000129349	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164239
0000129350	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164240
0000129351	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164241
0000129352	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164242
0000129353	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164243
0000129354	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164244
0000129355	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164245
0000129356	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164246
0000129357	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164247
0000129358	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164248
0000129359	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164249
0000129360	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164250
0000129361	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164251
0000129362	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164252
0000129363	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164253
0000129364	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164254
0000129365	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164255
0000129366	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164256
0000129367	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164257
0000129368	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164258
0000129369	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164259
0000129370	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164260
0000129371	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164261
0000129372	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164262
0000129373	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164263
0000129374	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164264
0000129375	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164265
0000129376	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164266
0000129377	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164267
0000129378	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164268
0000129379	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164269
0000129380	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164270
0000129381	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164271
0000129382	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164272
0000129383	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164273
0000129384	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164274
0000129385	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164275
0000129386	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164276
0000129387	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164277
0000129388	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164278
0000129389	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164279
0000129390	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164280
0000129391	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164281
0000129392	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164282
0000129393	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164283
0000129394	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164284
0000129395	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164285
0000129396	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164286
0000129397	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164287
0000129398	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164288
0000129399	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164289
0000129400	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164290
0000129401	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164291
0000129402	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164292
0000129403	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164293
0000129404	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164294
0000129405	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164295
0000129406	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164296
0000129407	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164297
0000129408	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164298
0000129409	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164299
0000129410	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164300
0000129411	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164301
0000129412	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164302
0000129413	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164303
0000129414	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164304
0000129415	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164305
0000129416	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164306
0000129417	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164307
0000129418	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164308
0000129419	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164309
0000129420	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164310
0000129421	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164311
0000129422	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164312
0000129423	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164313
0000129424	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164314
0000129425	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164315
0000129426	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164316
0000129427	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164317
0000129428	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164318
0000129429	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164319
0000129430	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164320
0000129431	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164321
0000129432	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164322
0000129433	-	congenital tufting enteropathy	DIAR-5	Familial, autosomal recessive	-	-	-	-	Mamata Sivagnanam	00164323
0000238689	see paper; severe neonatal-onset osmotic diarrhea, ...	severe neonatal-onset osmotic diarrhea	DIAR9	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00314932
0000238690	see paper; severe neonatal-onset osmotic diarrhea, ...	severe neonatal-onset osmotic diarrhea	DIAR9	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00314933
0000238691	see paper; severe neonatal-onset osmotic diarrhea, ...	severe neonatal-onset osmotic diarrhea	DIAR9	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00314934

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Global Variome shared LOVD

RNF113A (ring finger protein 113A)