Phenotypes for disease #05370 (INFF (infertility, female (INFF)))

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Diagnosis/Initial: initial diagnosis, before molecular testing

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

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

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/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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91 entries on 1 page. Showing entries 1 - 91.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000119757	female infertility, oocyte maturation arrest	OOMD-4	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00147040
0000119758	female infertility, oocyte maturation arrest	OOMD-4	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00147041
0000119759	female infertility, oocyte maturation arrest	OOMD-4	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00147042
0000119760	female infertility, oocyte maturation arrest	OOMD-4	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00147043
0000119761	female infertility, oocyte maturation arrest	OOMD-4	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00147044
0000119762	female infertility, oocyte maturation arrest	OOMD-4	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00147045
0000119763	female infertility, oocyte maturation arrest	OOMD-4	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00147046
0000224025	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296618
0000224026	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296619
0000224027	female infertility	OOMD2	see paper; ...	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00296620
0000224028	female infertility	OOMD2	see paper; ...	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00296621
0000224029	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296622
0000224030	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296623
0000224031	female infertility	OOMD2	see paper; ...	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00296624
0000224032	female infertility	OOMD2	see paper; ...	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00296625
0000224033	female infertility	OOMD2	see paper; ...	Unknown	-	-	-	-	Johan den Dunnen	00296626
0000224034	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296627
0000224035	female infertility	OOMD2	see paper; ...	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00296628
0000224036	female infertility	OOMD2	see paper; ...	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00296629
0000224037	female infertility	OOMD2	see paper; ...	Unknown	-	-	-	-	Johan den Dunnen	00296630
0000224038	female infertility	OOMD2	see paper; ...	Unknown	-	-	-	-	Johan den Dunnen	00296631
0000224039	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296632
0000224040	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296633
0000224041	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296634
0000224042	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296635
0000224043	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296636
0000224044	female infertility	OOMD2	see paper; ...	Unknown	-	-	-	-	Johan den Dunnen	00296637
0000224045	female infertility	OOMD2	see paper; ...	Unknown	-	-	-	-	Johan den Dunnen	00296638
0000224046	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296639
0000224047	female infertility	OOMD2	see paper; ...	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00296640
0000224048	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296641
0000224049	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296642
0000224050	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296643
0000224051	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296644
0000224052	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296645
0000224053	female infertility	OOMD2	see paper; ...	Unknown	-	-	-	-	Johan den Dunnen	00296646
0000224054	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296647
0000224055	female infertility	OOMD2	see paper; ...	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00296648
0000224056	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296649
0000224058	female infertility	OOMD2	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00296651
0000224060	female infertility	OOMD2	see paper; ...	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00296653
0000230324	female infertility	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00303240
0000230325	female infertility	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00303241
0000230326	female infertility	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00303242
0000230327	female infertility	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00303243
0000230341	female infertility	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00303258
0000230342	female infertility	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00303259
0000230343	female infertility	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00303260
0000230344	female infertility	-	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00303261
0000239615	infertility	-	see paper; ..., female infertility	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00315870
0000239616	infertility	-	see paper; ..., female infertility	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00315871
0000239617	infertility	-	see paper; ..., female infertility	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00315872
0000239618	infertility	-	see paper; ..., female infertility	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00315873
0000239619	infertility	-	see paper; ..., female infertility	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00315874
0000279793	infertility	-	see paper; ..., infertility, immunologically anomalous LH	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00385990
0000279794	infertility	-	see paper; ..., infertility, immunologically anomalous LH	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00385991
0000279795	infertility	-	see paper; ..., infertility, immunologically anomalous LH	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00385992
0000280207	primary ovarian insufficiency	-	see paper; ..., primary ovarian insufficiency, normal menstrual cycle, elevated FSH plasma levels around the postmenopausal range, normal antral follicle count, normal anti-Müllerian hormone levels; after two failed ovulation cycles, became pregnant in the third IVF cycle and delivered a healthy girl at term	Familial, autosomal recessive	31y	-	-	-	Johan den Dunnen	00386400
0000294309	infertility	OOMD7	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00401290
0000294310	infertility	OOMD7	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00401291
0000294311	infertility	OOMD7	see paper; ..., regular menstrual cycles, normal sex hormone concentrations, IVF oocytes died	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00401292
0000294312	infertility	OOMD7	see paper; ...	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00401293
0000307776	recurrent preimplantation embryo developmental arrest	-	see paper; ..., recurrent preimplantation embryo developmental arrest	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00416012
0000307777	recurrent preimplantation embryo developmental arrest	-	see paper; ..., recurrent preimplantation embryo developmental arrest	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00416011
0000321905	infertility	-	see paper; ..., primary ovarian insufficiency, resistant ovary syndrome; 15y-menarche, irregular menstrual cycles (15-180d)	Familial, autosomal recessive	29y	-	-	-	Johan den Dunnen	00431305
0000321910	infertility	ODG1	see paper; ..., infertility, delayed puberty, primary amenorrhea	Familial, autosomal recessive	26y	-	-	-	Johan den Dunnen	00431310
0000321913	infertility	ODG1	see paper; ..., primary amenorrhea, moderately developed secondary sex characteristics, normal sized ovaries, small antral follicles	Familial, autosomal recessive	25y	-	-	-	Johan den Dunnen	00431313
0000335789	Diminished ovarian reserve	Primary female infertility	elevated LH and FSH; severely decreased AMH; small ovaries	Familial, autosomal recessive	26y08m	-	-	-	Rima Slim	00446588
0000335791	-	-	4-5 years of infertility Very early miscarriage from a spontaneous pregnancy	Familial, autosomal recessive	-	-	-	-	Rima Slim	00446590
0000345851	primary infertility	OZEMA18	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00457387
0000345852	primary infertility	OZEMA18	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00457388
0000345853	primary infertility	OZEMA18	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00457389
0000345854	primary infertility	OZEMA18	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00457390
0000345855	primary infertility	OZEMA18	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00457391
0000345856	primary infertility	OZEMA19	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00457392
0000345857	primary infertility	OZEMA19	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00457393
0000345858	primary infertility	OZEMA19	see paper; ...	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00457394
0000345904	female infertility	OZEMA19	see paper; ..., oocyte maturation arrest at the germinal vesicle stage	Familial, autosomal recessive	34y	-	-	-	Johan den Dunnen	00457440
0000345905	female infertility	OZEMA4	see paper; ..., infertility due to oocyte maturation arrest	Familial, autosomal recessive	41y	-	-	-	Johan den Dunnen	00457441
0000345907	female infertility	OZEMA19	see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment	Familial, autosomal recessive	23y	-	-	-	Johan den Dunnen	00457443
0000345908	female infertility	OZEMA19	see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment	Familial, autosomal recessive	31y	-	-	-	Johan den Dunnen	00457444
0000345909	female infertility	OZEMA19	see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment	Familial, autosomal recessive	38y	-	-	-	Johan den Dunnen	00457445
0000345910	female infertility	OZEMA19	see paper; ..., 33y-history of spontaneous abortion; 43y-preimplantation embryonic arrest during assisted reproductive technology treatment	Familial, autosomal recessive	43y	-	-	-	Johan den Dunnen	00457446
0000345911	female infertility	-	see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment	Familial, autosomal recessive	25y	-	-	-	Johan den Dunnen	00457447
0000346278	female infertility	-	only 4 homozygous women had children, all received infertility treatment	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00457830
0000346438	female infertility	POF25	see paper; ..., 14y/13y-menarche, irregular menstrual cycles, no amenorrhea; 19y/22y-abortion; atrophic ovaries, few or no follicles	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00457988
0000350620	-	-	Female infertility (HP:0008222)	Familial, autosomal recessive	-	-	-	-	Rima Slim	00464630
0000350621	infertility	Oocyte maturation arrest (617743)	Female infertility (HP:0008222)	Unknown	-	-	-	-	Rima Slim	00464631
0000350622	-	-	-	Familial, autosomal recessive	-	-	-	-	Rima Slim	00464632
0000350626	-	-	Female infertility (HP:0008222)	Familial, autosomal recessive	-	-	-	-	Rima Slim	00464636
0000350754	female infertility	OZEMA18	see paper; ..., primary infertility, 4 early miscarriages, 1 failed attempt of intracytoplasmic sperm injection	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00452998

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Global Variome shared LOVD

H2AFX (H2A histone family, member X)