Phenotypes for disease #02353 (CYSRD (dysplasia, renal, cystic, susceptibility to (CYSRD)), OMIM:601331)

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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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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000084404	cystic renal dysplasia; born at 38w gestational age. Prenatal ultrasound had shown unilateral dysplasia with cysts of the right kidney at 22 weeks gestational age. MRI was performed in order to rule out a renal tumour. Postnatal sonography showed renal dysplasia with cysts, increase of renal size (65 x 50 mm) and renal hyperechogenicity of the right kidney , whereas the left kidney was completely normal. No other visceral malformations were detected. Arterial hypertension (120/80 mmHg) responded favourably to beta-blockers. As no specific aetiology for arterial hypertension was found, it has been attributed to the right renal dysplasia with cysts. DMSA scintigraphy showed hypofunction of the right kidney (34% of the total renal function). Serum creatinine was normal, proteinuria negative, and glycemia normal. No sonographic abnormalities of liver or pancreas were detected. At last follow-up the boy was 18 months old, had normal blood pressure (under low dose beta-blockers), a normal psycho-motor development and normal height (81 cm) and weight (10.8 kg). His proteinuria, microalbuminuria and renal function were normal. Serum creatinine was 29 µmol/L (GFR of 115 ml/min/1.73m2), and glycemia was 4.3 mmol/L. Sonographic abnormalities persist without significant changes.	-	-	Familial	-	-	-	-	-	Anne Grapin-Botton	00106597
0000084405	cystic renal dysplasia; born at 32w gestational age. The second trimester prenatal ultrasound had shown a dysplastic left kidney and a normal right kidney. Ultrasound follow-up revealed a hyperechogenic right kidney with normal size and shape. The amount of amniotic fluid was normal as well as the amniotic biochemistry. At birth, the renal function and the blood pressure were within the normal ranges for the term. The patient experienced a spontaneous pneumothorax which rapidly resolved. Post natal sonography confirmed the dysplastic left kidney; The right kidney appeared always hyperechogenic but it progressively became normal on the following ultrasound controls. Retrograde cystography showed a left low grade vesico-ureteral reflux. No additional clinical or imaging abnormalities were found. DMSA scintigraphy performed at the age of 9 months showed a non functional left kidney with a compensatory hyperfunction of the right kidney (30%, normal range 15 ± 3.7%). Over the first 3 years, the patient experienced three episodes of acute pyelonephritis despite the antibiotic prophylaxis. At the age of 3 years, the left kidney appeared on sonography as a cluster of cysts varying from 1 to 2.7 cm of diameter, whereas the right kidney measured 8.2 cm. The pancreas and liver were normal. At last follow-up, the boy was 5 years-old, psycho-motor development and growth were persistently normal (height 105.5 cm, weight 19.3 kg), blood pressure was 104/69, serum creatinin was 53 µmol/l (GFR of 72 ml/min/1.73m²) and glycaemia was 4.44 mmol/L.	-	-	Familial	-	-	-	-	-	Anne Grapin-Botton	00106598

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