Phenotypes for disease #00050 (hydrops fetalis (hydrops fetalis))

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Diagnosis/Initial: initial diagnosis, before molecular testing

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

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

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

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

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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8 entries on 1 page. Showing entries 1 - 8.

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Phenotype ID	Diagnosis/Initial	Inheritance	Age/Examination	Diagnosis/Definite	Age/Diagnosis	Age/Onset	Phenotype/Onset	Phenotype details	Protein	Owner	Individual ID
0000319181	hydrops fetalis	Familial, autosomal recessive	<0d	-	-	-	-	pregnancy severe, progressive hydrops, 24w-intrauterine fetal death; ultrasound 11w-normal, 19w+5 last menstrual period, 17w-screening hydrothorax, ascites, subcutaneous fluid; postmortem examination tetralogy of Fallot, 2w discrepancy estimated due date from last menstrual period and ultrasound, no observed increase in number of lymphatic vessels, hydropic placenta, thick (3cm), oedematous, weight 360g	-	Johan den Dunnen	00428276
0000319182	hydrops fetalis	Familial, autosomal recessive	<0d	-	-	-	-	pregnancy severe, progressive hydrops, 27w-intrauterine fetal death; ultrasound 12w+3-nuchal translucency 5.0, cystic hygroma subcutaneous fluid, 16w-hydrothorax, subcutaneous fluid, cystic hygroma, 26w-ascites; postmortem examination no cardiac abnormalities; short long bones, bell-shaped thorax (due to hydrothorax/hypoplastic lungs); no observed increase in number of lymphatic vessels; hydropic placenta, thick (2.9cm), weight 440g, abnormal vascular architecture/proliferation vessels	-	Johan den Dunnen	00428277
0000319183	hydrops fetalis	Familial, autosomal recessive	<0d	-	-	-	-	14w-termination of pregnancy; pregnancy early detected severe hydrops; ultrasound 12w+4-cystic hygroma, subcutaneous fluid, 14w+4 cystic hygroma and hydrothorax	-	Johan den Dunnen	00428278
0000319184	hydrops fetalis	Familial, autosomal recessive	<0d	-	-	-	-	14w-spontaneous abortion; pregnancy early detected severe hydrops; ultrasound 11w+0 nuchal translucency 3.7, generalised subcutaneous fluid, cystic hygroma, 12w+1 nuchal translucency 6-7 mm	-	Johan den Dunnen	00428279
0000343290	hydrops fetalis, NIHF	Familial, autosomal recessive	-	hydrops fetalis, NIHF	-	-	-	fetal demise at 19 weeks of gestation with findings of thick nuchal translucency	-	Tess Holling	00454652
0000343293	hydrops fetalis, NIHF	Familial, autosomal recessive	-	-	-	-	-	cystic hygroma and NIHF, termination of pregnancy by 15 5/7 weeks	-	Tess Holling	00454654
0000343294	hydrops fetalis, NIHF	Familial, autosomal recessive	-	-	-	-	-	pregnancy was terminated by 16 weeks because if NIHF	-	Tess Holling	00454655
0000350522	nonimmune hydrops fetalis	Familial, autosomal recessive	-	-	-	-	-	pregnancy was terminated by 13 weeks because of NIHF	-	Tess Holling	00464522

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Global Variome shared LOVD