Phenotypes for disease #01629 (adrenal hyperplasia (adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency), OMIM:201910)

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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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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	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'
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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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29 entries on 1 page. Showing entries 1 - 29.

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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
0000060417	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (OMIM:201910)	-	-	Familial, autosomal recessive	-	-	-	-	-	Daniel Trujillano	00080848
0000129851	salt-wasting (HP:0000127)	-	-	Familial, autosomal recessive	0m	-	-	-	-	Stephanie Kleinle	00164833
0000129852	ACTH test conspicious; salt-wasting (HP:0000127) - according to Wedell et al	-	-	Familial, autosomal recessive	30y	-	-	-	-	Stephanie Kleinle	00164836
0000129853	non classical	-	-	Familial, autosomal recessive	31y	-	-	-	-	Stephanie Kleinle	00164838
0000129854	non classical	-	-	Familial, autosomal recessive	32y	-	-	-	-	Stephanie Kleinle	00164842
0000129855	non classical	-	-	Familial, autosomal recessive	33y	-	-	-	-	Stephanie Kleinle	00164844
0000129856	ACTH test conspicious; non classical	-	-	Familial, autosomal recessive	33y	-	-	-	-	Stephanie Kleinle	00164846
0000129857	ACTH test conspicious; simple-virilizing	-	-	Familial, autosomal recessive	29y	-	-	-	-	Stephanie Kleinle	00164848
0000129858	non classical	-	-	Familial, autosomal recessive	17y	-	-	-	-	Stephanie Kleinle	00164849
0000129859	non classical	-	-	Familial, autosomal recessive	35y	-	-	-	-	Stephanie Kleinle	00164851
0000129860	ACTH test conspicious; non classical	-	-	Familial, autosomal recessive	39y	-	-	-	-	Stephanie Kleinle	00164852
0000129861	classical simple-virilizing	-	-	Familial, autosomal recessive	2m	-	-	-	-	Stephanie Kleinle	00164853
0000129862	non classical; salt-wasting (HP:0000127)	-	-	Familial, autosomal recessive	34y	-	-	-	-	Stephanie Kleinle	00164854
0000129863	classical simple-virilizing; salt-wasting (HP:0000127)	-	-	Familial, autosomal recessive	34y	-	-	-	-	Stephanie Kleinle	00164856
0000129864	salt-wasting (HP:0000127)	-	-	Familial, autosomal recessive	0m	-	-	-	-	Stephanie Kleinle	00164858
0000129865	classical simple-virilizing; salt-wasting (HP:0000127)	-	-	Familial, autosomal recessive	26y	-	-	-	-	Stephanie Kleinle	00164859
0000129866	non classical; hirsutism (HP:0002230); ACTH test conspicious	-	-	Familial, autosomal recessive	46y	-	-	-	-	Stephanie Kleinle	00164862
0000129867	ACTH test conspicious; non classical	-	-	Familial, autosomal recessive	30y	-	-	-	-	Stephanie Kleinle	00164865
0000129868	non classical	-	-	Familial, autosomal recessive	25y	-	-	-	-	Stephanie Kleinle	00164874
0000129869	salt-wasting (HP:0000127)	-	-	Familial, autosomal recessive	25y	-	-	-	-	Stephanie Kleinle	00164875
0000129870	non classical	-	-	Familial, autosomal recessive	8y	-	-	-	-	Stephanie Kleinle	00164876
0000129871	salt-wasting (HP:0000127)	-	-	Familial, autosomal recessive	0m	-	-	-	-	Stephanie Kleinle	00164878
0000129872	classical simple-virilizing	-	-	Familial, autosomal recessive	10y	-	-	-	-	Stephanie Kleinle	00164879
0000129873	classical simple-virilizing	-	-	Familial, autosomal recessive	6y	-	-	-	-	Stephanie Kleinle	00164880
0000129874	salt-wasting (HP:0000127)	-	-	Familial, autosomal recessive	0m	-	-	-	-	Stephanie Kleinle	00164881
0000129875	ACTH test conspicious; hirsutism (HP:0002230)	-	-	Familial, autosomal recessive	24y	-	-	-	-	Stephanie Kleinle	00164883
0000129876	salt-wasting (HP:0000127)	-	-	Familial, autosomal recessive	0m	-	-	-	-	Stephanie Kleinle	00164884
0000232564	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Guorui Hu	00306721
0000236811	adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00306206

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