Phenotypes for disease #02084 (Canavan (disease, Canavan), OMIM:271900)

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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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149 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
0000144435	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184305
0000144436	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184306
0000144437	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184307
0000144438	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184308
0000144439	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184309
0000144440	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184310
0000144441	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184311
0000144442	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184312
0000144443	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184313
0000144444	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184314
0000144445	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184315
0000144446	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184316
0000144447	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184317
0000144448	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184318
0000144449	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184319
0000144450	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184320
0000144451	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184321
0000144452	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184322
0000144453	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184323
0000144454	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184324
0000144455	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184325
0000144456	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184326
0000144457	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184327
0000144458	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184328
0000144459	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184329
0000144460	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184330
0000144461	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184331
0000144462	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184332
0000144463	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184333
0000144464	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184334
0000144465	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184335
0000144466	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184336
0000144467	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184337
0000144474	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184344
0000144475	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184345
0000144476	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184346
0000144477	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184347
0000144478	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184348
0000144479	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184349
0000144485	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184355
0000144486	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184356
0000144490	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184360
0000144491	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184361
0000144493	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184363
0000144495	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184365
0000144496	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184366
0000144498	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184368
0000144510	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184380
0000144513	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184383
0000144514	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184384
0000144515	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184385
0000144516	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184386
0000144525	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184395
0000144526	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184396
0000144527	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184397
0000144530	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184400
0000144538	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184408
0000144539	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184409
0000144540	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184410
0000144541	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184411
0000144542	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184412
0000144543	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184413
0000144544	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184414
0000144545	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184415
0000144546	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184416
0000144547	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184417
0000144552	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184422
0000144553	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184423
0000144554	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184424
0000144555	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184425
0000144556	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184426
0000144557	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184427
0000144558	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184428
0000144559	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184429
0000144560	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184430
0000144561	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184431
0000144562	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184432
0000144563	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184433
0000144564	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184434
0000144565	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184435
0000144568	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184438
0000144569	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184439
0000144573	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184443
0000144574	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184444
0000144576	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184446
0000144577	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184447
0000144578	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184448
0000144579	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184449
0000144583	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184453
0000144584	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184454
0000144585	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184455
0000144590	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184460
0000144597	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184467
0000144598	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184468
0000144599	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184469
0000144600	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184470
0000144627	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184497
0000144628	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184498
0000144629	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184499
0000144637	-	ASPA defect	Canavan disease	Familial, autosomal recessive	-	-	-	-	-	Gajja Salomons	00184507

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