Phenotypes for disease #04516 (IMD30 (immunodeficiency, type 30 (IMD-30)), OMIM:614891)

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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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172 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
0000199362	IMD30, IL-12RB1 deficiency, MSMD	-	-	Familial, autosomal recessive	-	-	-	-	-	Enrique Medina-Acosta	00260830
0000199483	IMD30, IL-12RB1 deficiency, MSMD	-	-	Familial, autosomal recessive	-	-	-	-	-	Enrique Medina-Acosta	00260950
0000199484	IMD30, IL-12RB1 deficiency, MSMD	-	-	Familial, autosomal recessive	-	-	-	-	-	Enrique Medina-Acosta	00260951
0000199485	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260952
0000199486	Disseminated BCG, Candida infection	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260953
0000199487	localized BCG infection	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260954
0000199488	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260955
0000199489	M.bovis BCG infection	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260956
0000199490	salmonella infection	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260957
0000199491	BCG infection	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260958
0000199492	IMD30, IL12RB1 deficiency, MSMD	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260959
0000199493	IMD30, IL12RB1 deficiency, MSMD	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260960
0000199494	IMD30, IL12RB1, MSMD	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260961
0000199495	IMD30, IL12RB1 deficiency, MSMD	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260962
0000199496	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260963
0000199497	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260964
0000199498	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260965
0000199499	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260966
0000199500	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260967
0000199501	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260968
0000199502	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00260969
0000199503	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260970
0000199504	BCG infection and CMC	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260971
0000199505	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260972
0000199506	BCG infection and Salmonella	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260973
0000199507	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260975
0000199508	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260976
0000199509	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260977
0000199510	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260978
0000199511	BCGosis	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260979
0000199512	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260980
0000199513	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260981
0000199514	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00260982
0000199515	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260983
0000199516	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260984
0000199517	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260985
0000199518	Tuberculosis	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260986
0000199519	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260987
0000199520	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260988
0000199521	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260989
0000199522	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260990
0000199523	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260991
0000199524	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260992
0000199525	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00260993
0000199526	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260994
0000199527	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260995
0000199528	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00260996
0000199529	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260997
0000199530	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260998
0000199531	M.bovis BCG infection	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00260999
0000199532	IMD30, IL12RB1 deficiency, MSMD	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261000
0000199533	IMD30, IL12RB1 deficiency, MSMD	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261001
0000199534	IMD30, IL12RB1 deficiency, MSMD	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261002
0000199535	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261003
0000199536	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261004
0000199537	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261005
0000199538	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261006
0000199539	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261007
0000199540	disseminated BCG	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261008
0000199541	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261009
0000199542	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261010
0000199543	Salmonellosis	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261011
0000199544	BCGitis and CMC	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261012
0000199545	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00261013
0000199546	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261014
0000199547	BCG infection	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261015
0000199548	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261016
0000199549	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261017
0000199550	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261018
0000199551	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261019
0000199552	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261020
0000199553	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00261021
0000199554	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261022
0000199555	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261023
0000199556	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261024
0000199557	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261025
0000199558	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261026
0000199559	Salmonellosis + CMC (+ probably mycobacterial lymphadenitis)	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261027
0000199560	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261028
0000199561	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261029
0000199562	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261030
0000199563	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261031
0000199564	M.genavense infection	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261032
0000199565	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261033
0000199566	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261034
0000199567	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261035
0000199568	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261036
0000199569	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261037
0000199570	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00261038
0000199571	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00261039
0000199572	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261040
0000199573	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00261041
0000199574	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261042
0000199575	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261043
0000199576	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261044
0000199577	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261045
0000199578	Cutaneous Leukocytoclastic Vasculitis due to Salmonella enteritidis	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261046
0000199579	BCG and salmonellosis, recurrent vasculitis	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261047
0000199580	-	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261048
0000199581	M.bovis BCG infection (check)	-	-	Familial, autosomal recessive	-	-	-	-	-	LOVD	00261049

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Global Variome shared LOVD

CYP2C19 (cytochrome P450, family 2, subfamily C, po...)