Phenotypes for disease #02274 (LHON (Leber hereditary optic neuropathy), OMIM:535000)

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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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63 entries on 1 page. Showing entries 1 - 63.

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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
0000231210	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305360
0000231211	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305361
0000231212	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305362
0000231213	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305363
0000231214	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305364
0000231215	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305365
0000231216	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305366
0000231217	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305367
0000231218	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305368
0000231219	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305369
0000231220	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305370
0000231221	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305371
0000231222	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305372
0000231223	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305373
0000231224	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305374
0000231225	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305375
0000231226	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305376
0000231227	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305377
0000231228	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305378
0000231229	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305379
0000231230	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305380
0000231231	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305381
0000231232	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305382
0000231233	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305383
0000231234	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305384
0000231235	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305385
0000231236	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305386
0000231237	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305387
0000231238	-	Leber's hereditary optic neuropathy	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00305388
0000254870	acute painless vision loss	Optic neuropathy	-	Maternal, mitochondrial	-	-	>40y	-	-	Daniele Ghezzi	00359598
0000254871	Optic neuropathy HP:0001138	-	-	Maternal, mitochondrial	-	20y-40y	-	-	-	Daniele Ghezzi	00359599
0000254872	Optic neuropathy HP:0001138	-	-	Unknown	-	<20y	-	-	-	Daniele Ghezzi	00359600
0000254873	Optic neuropathy HP:0001138 Visual loss HP:0000572	Leber optic atrophy HP:0001112	-	Maternal, mitochondrial	-	20y-40y	20y-40y	-	-	Daniele Ghezzi	00359601
0000254874	Optic neuropathy HP:0001138 Visual loss HP:0000572	Leber optic atrophy HP:0001112	-	Unknown	-	-	>40y	-	-	Daniele Ghezzi	00359602
0000309777	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418409
0000309778	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418410
0000309779	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418411
0000309780	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418412
0000309781	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418413
0000309782	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418414
0000309783	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418415
0000309784	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418416
0000309785	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418417
0000309786	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418418
0000309787	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418419
0000309788	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418420
0000309789	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418421
0000309790	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418422
0000309791	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418423
0000309792	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418424
0000309793	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418425
0000309794	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418426
0000309795	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418427
0000309796	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418428
0000309797	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418429
0000309798	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418430
0000309799	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418431
0000309800	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418432
0000309801	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418433
0000309802	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418434
0000309803	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418435
0000309804	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418436
0000309805	-	Leber’s hereditary optic neuropathy	LHONAR	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00418437

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