Phenotypes for disease #02441 (HLPS (histiocytosis-lymphadenopathy plus syndrome), OMIM:602782)

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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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18 entries on 1 page. Showing entries 1 - 18.

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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
0000085539	histiocytosis-lymphadenopathy plus syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107776
0000085540	Rosai-Dorfman Disease (RDD)/Sinus Histiocytosis with Massive Lymphadenop...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107777
0000085541	PHID Pigmented Hypertrichosis with Insulin Dependent Diabetes Mellit...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107778
0000085542	H syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107779
0000085543	recurrent transient erythematous papules on the lower abdomen, fractures, cortical thickening and widening of the diaphysis of the long bones, cranial base sclerosis, broad ribs with sclerosis, and platyspondyly; Dysosteosclerosis	-	-	Familial, autosomal recessive	03y	-	-	-	-	Philippe Campeau	00107780
0000085544	PHID Pigmented Hypertrichosis with Insulin Dependent Diabetes Mellit...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107781
0000085545	H syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107782
0000085546	H syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107783
0000085547	H syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107784
0000085548	H syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107785
0000085549	H syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107786
0000085550	PHID Pigmented Hypertrichosis with Insulin Dependent Diabetes Mellit...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107787
0000085551	Rosai-Dorfman Disease (RDD)/Sinus Histiocytosis with Massive Lymphadenop...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107788
0000085552	Rosai-Dorfman Disease (RDD)/Sinus Histiocytosis with Massive Lymphadenop...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107789
0000085553	H syndrome	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107790
0000085554	PHID Pigmented Hypertrichosis with Insulin Dependent Diabetes Mellit...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107791
0000085555	PHID Pigmented Hypertrichosis with Insulin Dependent Diabetes Mellit...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00107792
0000085556	fractures, cortical thickening and widening of the diaphysis of the long bones, cranial base sclerosis, broad ribs with sclerosis, and platyspondyly;	-	-	Familial, autosomal recessive	04y	-	-	-	-	Philippe Campeau	00107793

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Global Variome shared LOVD