Phenotypes for disease #05180 (IMD29 (immunodeficiency, type 29, mycobacteriosis (IMD-29)), OMIM:614890)

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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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37 entries on 1 page. Showing entries 1 - 37.

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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
0000060664	Immunodeficiency 29,mycobacteriosis (OMIM:614890)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00081095
0000185304	IMD29, IL-12p40 deficiency, MSMD / oral candidiasis / Salmonella enteritidis sepsis / visceral leishmaniasis	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245356
0000185305	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245357
0000185306	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245358
0000185307	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245359
0000185308	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245360
0000185309	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245361
0000185310	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245362
0000185311	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245363
0000185312	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245364
0000185313	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245365
0000185314	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245366
0000185315	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245367
0000185316	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245368
0000185317	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245369
0000185318	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245370
0000185319	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245371
0000185320	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245372
0000185321	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245373
0000185322	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245374
0000185323	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245375
0000185324	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245376
0000185325	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245377
0000185326	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245378
0000185327	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245379
0000185328	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245380
0000185329	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245381
0000185330	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245382
0000185331	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245383
0000185332	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245384
0000185333	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245385
0000185334	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245386
0000185335	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245387
0000185336	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245388
0000185337	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245389
0000185338	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245390
0000185339	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Esther van de Vosse	00245391

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