Phenotypes for disease #02390 (CLN6 (lipofuscinosis, ceroid, neuronal, type 6 (CLN-6)), OMIM:601780)

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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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15 entries on 1 page. Showing entries 1 - 15.

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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
0000046785	see paper; juvenile onset cerebellar ataxia with seizures (JCS), ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00060287
0000060551	ceroid lipofuscinosis, neuronal	-	CLN6	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080982
0000060563	ceroid lipofuscinosis, neuronal	-	CLN6	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080994
0000060642	ceroid lipofuscinosis, neuronal	-	CLN6	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00081073
0000233266	HP:0001250,HP:0001263,HP:0002376,HP:0011344	-	-	Familial, autosomal recessive	-	-	-	-	-	Corina-Marcela Rus	00307826
0000233267	HP:0000505,HP:0001250,HP:0001260,HP:0001332,HP:0001336,HP:0002180,HP:0002376,HP:0002518,HP:0007305,HP:0012444	-	-	Familial, autosomal recessive	-	08y03m	-	-	-	Corina-Marcela Rus	00307827
0000233269	HP:0000280,HP:0001249,HP:0001251,HP:0001257,HP:0001260,HP:0010729	-	-	Familial, autosomal recessive	-	05y07m	-	-	-	Corina-Marcela Rus	00307828
0000233270	HP:0000329,HP:0000750,HP:0001270,HP:0002120,HP:0002123,HP:0002194,HP:0002376,HP:0012444	-	-	Familial, autosomal recessive	-	07y02m	-	-	-	Corina-Marcela Rus	00307829
0000233271	HP:0001251, HP:0001268, HP:0000752 HP:0002273	-	-	Familial, autosomal recessive	-	04y06m	-	-	-	Corina-Marcela Rus	00307830
0000233272	HP:0000543,HP:0001317,HP:0002353,HP:0100704	-	-	Familial, autosomal recessive	-	06y03m	-	-	-	Corina-Marcela Rus	00307831
0000233273	HP:0000365,HP:0000608,HP:0000618,HP:0000639,HP:0000648,HP:0000707,HP:0000750,HP:0000952,HP:0001250,HP:0001251,HP:0001272,HP:0002066,HP:0002073,HP:0002376,HP:0007018,HP:0011004,HP:0011170	-	-	Familial, autosomal recessive	-	04y10m	-	-	-	Corina-Marcela Rus	00307832
0000233274	HP:0000505,HP:0000733,HP:0000748,HP:0000952,HP:0001028,HP:0001249,HP:0001250,HP:0001252,HP:0001508,HP:0001653,HP:0002180,HP:0002280,HP:0002376,HP:0002465,HP:0004488,HP:0006579,HP:0007018,HP:0007360,HP:0007461,HP:0012501	-	-	Familial, autosomal recessive	-	05y05m	-	-	-	Corina-Marcela Rus	00307833
0000233275	HP:0001250, HP:0001263	-	-	Familial, autosomal recessive	-	06y07m	-	-	-	Corina-Marcela Rus	00307834
0000233276	HP:0001263,HP:0001272,HP:0002376	-	-	Familial, autosomal recessive	-	05y02m	02y09m	-	-	Corina-Marcela Rus	00307835
0000233277	HP:0000324,HP:0000325,HP:0000426,HP:0000494,HP:0000750,HP:0001249,HP:0001250,HP:0001251,HP:0001270,HP:0001272,HP:0001321,HP:0001999,HP:0002353,HP:0002376,HP:0002415,HP:0002515,HP:0003781,HP:0006808,HP:0007359,HP:0011185,HP:0012447	-	-	Familial, autosomal recessive	-	05y09m	03y	-	-	Corina-Marcela Rus	00307836

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