Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal morphology of female internal genitalia (HP:0000008)

Grandparent Node:
Irregular menstruation (HP:0000858)

Parent Node:
Abnormality of the menstrual cycle (HP:0000140)

..Starting node
..Amenorrhea (HP:0000141)

Term ID:

141

Name:

Amenorrhea

Synonym:

Abnormal absence of menstruation

Definition:

Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.

Comments:

Reference:

HP:0000141

Genes and Diseases:

Child Nodes:

........

Primary amenorrhea (HP:0000786)

........

Secondary amenorrhea (HP:0000869)

Sister Nodes:

Delayed menarche (HP:0012569)

Menometrorrhagia (HP:0400008)

Menorrhagia (HP:0000132)

Metrorrhagia (HP:0100608)

Oligomenorrhea (HP:0000876)

Polymenorrhea (HP:0400007)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000141	HP:0000141	Amenorrhea	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	85
HP:0000141	HP:0000141	Amenorrhea	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040282 - Frequent	95
HP:0000141	HP:0000141	Amenorrhea	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	95
HP:0000141	HP:0000141	Amenorrhea	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0000141	HP:0000141	Amenorrhea	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0000141	HP:0000141	Amenorrhea	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0000141	HP:0000141	Amenorrhea	0	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome		125
HP:0000141	HP:0000141	Amenorrhea	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0000141	HP:0000141	Amenorrhea	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0000141	HP:0000141	Amenorrhea	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0000141	HP:0000141	Amenorrhea	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0000141	HP:0000141	Amenorrhea	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0000141	HP:0000141	Amenorrhea	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis		16
HP:0000141	HP:0000141	Amenorrhea	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0000141	HP:0000141	Amenorrhea	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0000141	HP:0000141	Amenorrhea	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0000141	HP:0000141	Amenorrhea	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0000141	HP:0000141	Amenorrhea	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0000141	HP:0000141	Amenorrhea	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0000141	HP:0000141	Amenorrhea	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0000141	HP:0000141	Amenorrhea	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000141	HP:0000141	Amenorrhea	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	105
HP:0000141	HP:0000141	Amenorrhea	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0000141	HP:0000141	Amenorrhea	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	11
HP:0000141	HP:0000141	Amenorrhea	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0000141	HP:0000141	Amenorrhea	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	48
HP:0000141	HP:0000141	Amenorrhea	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0000141	HP:0000141	Amenorrhea	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000141	HP:0000141	Amenorrhea	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0000141	HP:0000141	Amenorrhea	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	636
HP:0000141	HP:0000141	Amenorrhea	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0000141	HP:0000141	Amenorrhea	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0000141	HP:0000141	Amenorrhea	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0000141	HP:0000141	Amenorrhea	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0000141	HP:0000141	Amenorrhea	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome		200
HP:0000141	HP:0000141	Amenorrhea	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0000141	HP:0000141	Amenorrhea	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0000141	HP:0000141	Amenorrhea	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0000141	HP:0000141	Amenorrhea	0	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3		13
HP:0000141	HP:0000141	Amenorrhea	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000141	HP:0000141	Amenorrhea	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0000141	HP:0000141	Amenorrhea	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0000141	HP:0000141	Amenorrhea	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0000141	HP:0000141	Amenorrhea	0	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency		53
HP:0000141	HP:0000141	Amenorrhea	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0000141	HP:0000141	Amenorrhea	0	CYP19A1 CL E G H	1588	2594	OMIM:613546	Aromatase deficiency		60
HP:0000141	HP:0000141	Amenorrhea	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency		60
HP:0000141	HP:0000141	Amenorrhea	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0000141	HP:0000141	Amenorrhea	0	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0000141	HP:0000141	Amenorrhea	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0000141	HP:0000141	Amenorrhea	0	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7		21
HP:0000141	HP:0000141	Amenorrhea	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000141	HP:0000141	Amenorrhea	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0000141	HP:0000141	Amenorrhea	0	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0000141	HP:0000141	Amenorrhea	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0000141	HP:0000141	Amenorrhea	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		4
HP:0000141	HP:0000141	Amenorrhea	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0000141	HP:0000141	Amenorrhea	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0000141	HP:0000141	Amenorrhea	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter		42
HP:0000141	HP:0000141	Amenorrhea	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter		24
HP:0000141	HP:0000141	Amenorrhea	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter		32
HP:0000141	HP:0000141	Amenorrhea	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter		38
HP:0000141	HP:0000141	Amenorrhea	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter		48
HP:0000141	HP:0000141	Amenorrhea	0	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0000141	HP:0000141	Amenorrhea	0	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0000141	HP:0000141	Amenorrhea	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance		13
HP:0000141	HP:0000141	Amenorrhea	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0000141	HP:0000141	Amenorrhea	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0000141	HP:0000141	Amenorrhea	0	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia		2
HP:0000141	HP:0000141	Amenorrhea	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		2
HP:0000141	HP:0000141	Amenorrhea	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0000141	HP:0000141	Amenorrhea	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		3
HP:0000141	HP:0000141	Amenorrhea	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0000141	HP:0000141	Amenorrhea	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0000141	HP:0000141	Amenorrhea	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia		17
HP:0000141	HP:0000141	Amenorrhea	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0000141	HP:0000141	Amenorrhea	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0000141	HP:0000141	Amenorrhea	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0000141	HP:0000141	Amenorrhea	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0000141	HP:0000141	Amenorrhea	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0000141	HP:0000141	Amenorrhea	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000141	HP:0000141	Amenorrhea	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0000141	HP:0000141	Amenorrhea	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare
HP:0000141	HP:0000141	Amenorrhea	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0000141	HP:0000141	Amenorrhea	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0000141	HP:0000141	Amenorrhea	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0000141	HP:0000141	Amenorrhea	0	FOXL2 CL E G H	668	1092	OMIM:608996	Premature ovarian failure 3		92
HP:0000141	HP:0000141	Amenorrhea	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0000141	HP:0000141	Amenorrhea	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0000141	HP:0000141	Amenorrhea	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis		50
HP:0000141	HP:0000141	Amenorrhea	0	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1		50
HP:0000141	HP:0000141	Amenorrhea	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0000141	HP:0000141	Amenorrhea	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0000141	HP:0000141	Amenorrhea	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0000141	HP:0000141	Amenorrhea	0	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14		2
HP:0000141	HP:0000141	Amenorrhea	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0000141	HP:0000141	Amenorrhea	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0000141	HP:0000141	Amenorrhea	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		15
HP:0000141	HP:0000141	Amenorrhea	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0000141	HP:0000141	Amenorrhea	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		92
HP:0000141	HP:0000141	Amenorrhea	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0000141	HP:0000141	Amenorrhea	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome		2
HP:0000141	HP:0000141	Amenorrhea	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0000141	HP:0000141	Amenorrhea	0	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2		29
HP:0000141	HP:0000141	Amenorrhea	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000141	HP:0000141	Amenorrhea	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000141	HP:0000141	Amenorrhea	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0000141	HP:0000141	Amenorrhea	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0000141	HP:0000141	Amenorrhea	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome		21
HP:0000141	HP:0000141	Amenorrhea	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0000141	HP:0000141	Amenorrhea	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0000141	HP:0000141	Amenorrhea	0	HFM1 CL E G H	164045	20193	OMIM:615724	Premature ovarian failure 9	.	6
HP:0000141	HP:0000141	Amenorrhea	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A	.
HP:0000141	HP:0000141	Amenorrhea	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0000141	HP:0000141	Amenorrhea	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0000141	HP:0000141	Amenorrhea	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0000141	HP:0000141	Amenorrhea	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0000141	HP:0000141	Amenorrhea	0	HSF2BP CL E G H	11077	5226	OMIM:619245	PREMATURE OVARIAN FAILURE 19; POF19		1
HP:0000141	HP:0000141	Amenorrhea	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0000141	HP:0000141	Amenorrhea	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000141	Amenorrhea	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1		4
HP:0000141	HP:0000141	Amenorrhea	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0000141	HP:0000141	Amenorrhea	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0000141	HP:0000141	Amenorrhea	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0000141	HP:0000141	Amenorrhea	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0000141	HP:0000141	Amenorrhea	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0000141	HP:0000141	Amenorrhea	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0000141	HP:0000141	Amenorrhea	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0000141	HP:0000141	Amenorrhea	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0000141	HP:0000141	Amenorrhea	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0000141	HP:0000141	Amenorrhea	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome		43
HP:0000141	HP:0000141	Amenorrhea	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.	88
HP:0000141	HP:0000141	Amenorrhea	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0000141	HP:0000141	Amenorrhea	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0000141	HP:0000141	Amenorrhea	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type		645
HP:0000141	HP:0000141	Amenorrhea	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0000141	HP:0000141	Amenorrhea	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000141	HP:0000141	Amenorrhea	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0000141	HP:0000141	Amenorrhea	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0000141	HP:0000141	Amenorrhea	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0000141	HP:0000141	Amenorrhea	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0000141	HP:0000141	Amenorrhea	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0000141	HP:0000141	Amenorrhea	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0000141	HP:0000141	Amenorrhea	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0000141	HP:0000141	Amenorrhea	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040282 - Frequent	462
HP:0000141	HP:0000141	Amenorrhea	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	462
HP:0000141	HP:0000141	Amenorrhea	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000141	HP:0000141	Amenorrhea	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000141	Amenorrhea	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis		25
HP:0000141	HP:0000141	Amenorrhea	0	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7		25
HP:0000141	HP:0000141	Amenorrhea	0	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0000141	HP:0000141	Amenorrhea	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0000141	HP:0000141	Amenorrhea	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0000141	HP:0000141	Amenorrhea	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0000141	HP:0000141	Amenorrhea	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000141	HP:0000141	Amenorrhea	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000141	HP:0000141	Amenorrhea	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000141	HP:0000141	Amenorrhea	0	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0000141	HP:0000141	Amenorrhea	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0000141	HP:0000141	Amenorrhea	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0000141	HP:0000141	Amenorrhea	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0000141	HP:0000141	Amenorrhea	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7		55
HP:0000141	HP:0000141	Amenorrhea	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000141	HP:0000141	Amenorrhea	0	NOBOX CL E G H	135935	22448	OMIM:611548	Premature ovarian failure 5		40
HP:0000141	HP:0000141	Amenorrhea	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000141	HP:0000141	Amenorrhea	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0000141	HP:0000141	Amenorrhea	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0000141	HP:0000141	Amenorrhea	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis		38
HP:0000141	HP:0000141	Amenorrhea	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0000141	HP:0000141	Amenorrhea	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0000141	HP:0000141	Amenorrhea	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0000141	HP:0000141	Amenorrhea	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis		5
HP:0000141	HP:0000141	Amenorrhea	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0000141	HP:0000141	Amenorrhea	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0000141	HP:0000141	Amenorrhea	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0000141	HP:0000141	Amenorrhea	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0000141	HP:0000141	Amenorrhea	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes		20
HP:0000141	HP:0000141	Amenorrhea	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency		65
HP:0000141	HP:0000141	Amenorrhea	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0000141	HP:0000141	Amenorrhea	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0000141	HP:0000141	Amenorrhea	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0000141	HP:0000141	Amenorrhea	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0000141	HP:0000141	Amenorrhea	0	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0000141	HP:0000141	Amenorrhea	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0000141	HP:0000141	Amenorrhea	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0000141	HP:0000141	Amenorrhea	0	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B		45
HP:0000141	HP:0000141	Amenorrhea	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0000141	HP:0000141	Amenorrhea	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000141	HP:0000141	Amenorrhea	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0000141	HP:0000141	Amenorrhea	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	42
HP:0000141	HP:0000141	Amenorrhea	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0000141	HP:0000141	Amenorrhea	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0000141	HP:0000141	Amenorrhea	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0000141	HP:0000141	Amenorrhea	0	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia	HP:0040282 - Frequent	2
HP:0000141	HP:0000141	Amenorrhea	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0000141	HP:0000141	Amenorrhea	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome		9
HP:0000141	HP:0000141	Amenorrhea	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0000141	HP:0000141	Amenorrhea	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0000141	HP:0000141	Amenorrhea	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome		34
HP:0000141	HP:0000141	Amenorrhea	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0000141	HP:0000141	Amenorrhea	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome		34
HP:0000141	HP:0000141	Amenorrhea	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0000141	HP:0000141	Amenorrhea	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0000141	HP:0000141	Amenorrhea	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000141	HP:0000141	Amenorrhea	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0000141	HP:0000141	Amenorrhea	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0000141	HP:0000141	Amenorrhea	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0000141	HP:0000141	Amenorrhea	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000141	Amenorrhea	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000141	Amenorrhea	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000141	HP:0000141	Amenorrhea	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0000141	HP:0000141	Amenorrhea	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome		7
HP:0000141	HP:0000141	Amenorrhea	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0000141	HP:0000141	Amenorrhea	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome		14
HP:0000141	HP:0000141	Amenorrhea	0	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		16
HP:0000141	HP:0000141	Amenorrhea	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0000141	HP:0000141	Amenorrhea	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0000141	HP:0000141	Amenorrhea	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0000141	HP:0000141	Amenorrhea	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0000141	HP:0000141	Amenorrhea	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000141	HP:0000141	Amenorrhea	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000141	HP:0000141	Amenorrhea	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000141	HP:0000141	Amenorrhea	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0000141	HP:0000141	Amenorrhea	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000141	Amenorrhea	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000141	Amenorrhea	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0000141	HP:0000141	Amenorrhea	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0000141	HP:0000141	Amenorrhea	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0000141	HP:0000141	Amenorrhea	0	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5		3
HP:0000141	HP:0000141	Amenorrhea	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome		61
HP:0000141	HP:0000141	Amenorrhea	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0000141	HP:0000141	Amenorrhea	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0000141	HP:0000141	Amenorrhea	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0000141	HP:0000141	Amenorrhea	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0000141	HP:0000141	Amenorrhea	0	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		5
HP:0000141	HP:0000141	Amenorrhea	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome		5
HP:0000141	HP:0000141	Amenorrhea	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0000141	HP:0000141	Amenorrhea	0	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0000141	HP:0000141	Amenorrhea	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0000141	HP:0000141	Amenorrhea	0	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1		23
HP:0000141	HP:0000141	Amenorrhea	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0000141	HP:0000141	Amenorrhea	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0000141	HP:0000141	Amenorrhea	0	SYCE1 CL E G H	93426	28852	OMIM:616947	PREMATURE OVARIAN FAILURE 12; POF12		4
HP:0000141	HP:0000141	Amenorrhea	0	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia		6
HP:0000141	HP:0000141	Amenorrhea	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0000141	HP:0000141	Amenorrhea	0	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia		34
HP:0000141	HP:0000141	Amenorrhea	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome		34
HP:0000141	HP:0000141	Amenorrhea	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0000141	HP:0000141	Amenorrhea	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0000141	HP:0000141	Amenorrhea	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0000141	HP:0000141	Amenorrhea	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.	67
HP:0000141	HP:0000141	Amenorrhea	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency		4
HP:0000141	HP:0000141	Amenorrhea	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0000141	HP:0000141	Amenorrhea	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0000141	HP:0000141	Amenorrhea	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0000141	HP:0000141	Amenorrhea	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1		7
HP:0000141	HP:0000141	Amenorrhea	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5		113
HP:0000141	HP:0000141	Amenorrhea	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0000141	HP:0000141	Amenorrhea	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0000141	HP:0000141	Amenorrhea	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0000141	HP:0000141	Amenorrhea	0	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia		10
HP:0000141	HP:0000141	Amenorrhea	0	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		10
HP:0000141	HP:0000141	Amenorrhea	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome		10
HP:0000141	HP:0000141	Amenorrhea	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0000141	HP:0000141	Amenorrhea	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome		10
HP:0000141	HP:0000141	Amenorrhea	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism		4
HP:0000141	HP:0000141	Amenorrhea	0	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0000141	HP:0000141	Amenorrhea	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly	.	13
HP:0000141	HP:0000141	Amenorrhea	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0000141	HP:0000141	Amenorrhea	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0000141	HP:0000141	Amenorrhea	0	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000141	HP:0000141	Amenorrhea	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome		177
HP:0000141	HP:0000141	Amenorrhea	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0000141	HP:0000141	Amenorrhea	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000141	HP:0000141	Amenorrhea	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0000141	HP:0000141	Amenorrhea	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0000141	HP:0000141	Amenorrhea	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0000141	HP:0000786	Primary amenorrhea	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	65
HP:0000141	HP:0000786	Primary amenorrhea	1	AR CL E G H	367	644	OMIM:300068	Androgen insensitivity syndrome	.	125
HP:0000141	HP:0000786	Primary amenorrhea	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0000141	HP:0000786	Primary amenorrhea	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0000141	HP:0000869	Secondary amenorrhea	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0000141	HP:0000786	Primary amenorrhea	1	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0000141	HP:0000869	Secondary amenorrhea	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional	16
HP:0000141	HP:0000786	Primary amenorrhea	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	16
HP:0000141	HP:0000786	Primary amenorrhea	1	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2	.	16
HP:0000141	HP:0000869	Secondary amenorrhea	1	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2	.	16
HP:0000141	HP:0000786	Primary amenorrhea	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0000141	HP:0000786	Primary amenorrhea	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0000141	HP:0000869	Secondary amenorrhea	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional
HP:0000141	HP:0000869	Secondary amenorrhea	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000141	HP:0000869	Secondary amenorrhea	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0000141	HP:0000786	Primary amenorrhea	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0000141	HP:0000869	Secondary amenorrhea	1	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0000141	HP:0000786	Primary amenorrhea	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3	.	11
HP:0000141	HP:0000786	Primary amenorrhea	1	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0000141	HP:0000786	Primary amenorrhea	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000141	HP:0000869	Secondary amenorrhea	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0000141	HP:0000786	Primary amenorrhea	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	200
HP:0000141	HP:0000786	Primary amenorrhea	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	515
HP:0000141	HP:0000786	Primary amenorrhea	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0000141	HP:0000869	Secondary amenorrhea	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	515
HP:0000141	HP:0000786	Primary amenorrhea	1	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2	.	3
HP:0000141	HP:0000786	Primary amenorrhea	1	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	.	13
HP:0000141	HP:0000786	Primary amenorrhea	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000141	HP:0000786	Primary amenorrhea	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	HP:0040283 - Occasional	17
HP:0000141	HP:0000786	Primary amenorrhea	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0000141	HP:0000786	Primary amenorrhea	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0000141	HP:0000786	Primary amenorrhea	1	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	.	53
HP:0000141	HP:0000786	Primary amenorrhea	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0000141	HP:0000786	Primary amenorrhea	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0000141	HP:0000786	Primary amenorrhea	1	CYP19A1 CL E G H	1588	2594	OMIM:613546	Aromatase deficiency	.	60
HP:0000141	HP:0000786	Primary amenorrhea	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	36
HP:0000141	HP:0000786	Primary amenorrhea	1	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0000141	HP:0000786	Primary amenorrhea	1	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0000141	HP:0000786	Primary amenorrhea	1	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7	.	21
HP:0000141	HP:0000786	Primary amenorrhea	1	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000141	HP:0000786	Primary amenorrhea	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000141	HP:0000869	Secondary amenorrhea	1	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A	.	6
HP:0000141	HP:0000786	Primary amenorrhea	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0000141	HP:0000786	Primary amenorrhea	1	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	4
HP:0000141	HP:0000786	Primary amenorrhea	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0000141	HP:0000869	Secondary amenorrhea	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	4
HP:0000141	HP:0000786	Primary amenorrhea	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0000141	HP:0000786	Primary amenorrhea	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0000141	HP:0000869	Secondary amenorrhea	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0000141	HP:0000869	Secondary amenorrhea	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0000141	HP:0000786	Primary amenorrhea	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0000141	HP:0000869	Secondary amenorrhea	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0000141	HP:0000786	Primary amenorrhea	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0000141	HP:0000869	Secondary amenorrhea	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0000141	HP:0000786	Primary amenorrhea	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0000141	HP:0000786	Primary amenorrhea	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0000141	HP:0000869	Secondary amenorrhea	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0000141	HP:0000869	Secondary amenorrhea	1	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0000141	HP:0000786	Primary amenorrhea	1	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0000141	HP:0000869	Secondary amenorrhea	1	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0000141	HP:0000786	Primary amenorrhea	1	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.	13
HP:0000141	HP:0000786	Primary amenorrhea	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent	13
HP:0000141	HP:0000786	Primary amenorrhea	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0000141	HP:0000786	Primary amenorrhea	1	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia	.	2
HP:0000141	HP:0000786	Primary amenorrhea	1	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	2
HP:0000141	HP:0000786	Primary amenorrhea	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	2
HP:0000141	HP:0000786	Primary amenorrhea	1	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	3
HP:0000141	HP:0000786	Primary amenorrhea	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	3
HP:0000141	HP:0000786	Primary amenorrhea	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0000141	HP:0000869	Secondary amenorrhea	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0000141	HP:0000786	Primary amenorrhea	1	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia	.	17
HP:0000141	HP:0000786	Primary amenorrhea	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	17
HP:0000141	HP:0000869	Secondary amenorrhea	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	17
HP:0000141	HP:0000786	Primary amenorrhea	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0000141	HP:0000786	Primary amenorrhea	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.	172
HP:0000141	HP:0000786	Primary amenorrhea	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	172
HP:0000141	HP:0000869	Secondary amenorrhea	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	172
HP:0000141	HP:0000786	Primary amenorrhea	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0000141	HP:0000869	Secondary amenorrhea	1	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000141	HP:0000786	Primary amenorrhea	1	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000141	HP:0000786	Primary amenorrhea	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0000141	HP:0000869	Secondary amenorrhea	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0000141	HP:0000869	Secondary amenorrhea	1	FOXL2 CL E G H	668	1092	OMIM:608996	Premature ovarian failure 3	.	92
HP:0000141	HP:0000786	Primary amenorrhea	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia	.	23
HP:0000141	HP:0000786	Primary amenorrhea	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0000141	HP:0000869	Secondary amenorrhea	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional	50
HP:0000141	HP:0000786	Primary amenorrhea	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	50
HP:0000141	HP:0000786	Primary amenorrhea	1	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1	.	50
HP:0000141	HP:0000869	Secondary amenorrhea	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0000141	HP:0000786	Primary amenorrhea	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0000141	HP:0000786	Primary amenorrhea	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0000141	HP:0000786	Primary amenorrhea	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0000141	HP:0000786	Primary amenorrhea	1	GDF9 CL E G H	2661	4224	OMIM:618014	Premature ovarian failure 14	.	2
HP:0000141	HP:0000786	Primary amenorrhea	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0000141	HP:0000786	Primary amenorrhea	1	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	15
HP:0000141	HP:0000869	Secondary amenorrhea	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	15
HP:0000141	HP:0000786	Primary amenorrhea	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0000141	HP:0000786	Primary amenorrhea	1	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	92
HP:0000141	HP:0000786	Primary amenorrhea	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0000141	HP:0000869	Secondary amenorrhea	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	92
HP:0000141	HP:0000786	Primary amenorrhea	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	2
HP:0000141	HP:0000869	Secondary amenorrhea	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0000141	HP:0000786	Primary amenorrhea	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0000141	HP:0000786	Primary amenorrhea	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000141	HP:0000786	Primary amenorrhea	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	21
HP:0000141	HP:0000786	Primary amenorrhea	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	21
HP:0000141	HP:0000786	Primary amenorrhea	1	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	.	8
HP:0000141	HP:0000786	Primary amenorrhea	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	8
HP:0000141	HP:0000786	Primary amenorrhea	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0000141	HP:0000869	Secondary amenorrhea	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	8
HP:0000141	HP:0000786	Primary amenorrhea	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.	98
HP:0000141	HP:0000869	Secondary amenorrhea	1	HSF2BP CL E G H	11077	5226	OMIM:619245	PREMATURE OVARIAN FAILURE 19; POF19		1
HP:0000141	HP:0000786	Primary amenorrhea	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0000141	HP:0000786	Primary amenorrhea	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000786	Primary amenorrhea	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0000141	HP:0000786	Primary amenorrhea	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0000141	HP:0000869	Secondary amenorrhea	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	3
HP:0000141	HP:0000786	Primary amenorrhea	1	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0000141	HP:0000786	Primary amenorrhea	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0000141	HP:0000869	Secondary amenorrhea	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	14
HP:0000141	HP:0000786	Primary amenorrhea	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0000141	HP:0000869	Secondary amenorrhea	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0000141	HP:0000786	Primary amenorrhea	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0000141	HP:0000786	Primary amenorrhea	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0000141	HP:0000786	Primary amenorrhea	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0000141	HP:0000869	Secondary amenorrhea	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0000141	HP:0000786	Primary amenorrhea	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	43
HP:0000141	HP:0000869	Secondary amenorrhea	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0000141	HP:0000869	Secondary amenorrhea	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0000141	HP:0000869	Secondary amenorrhea	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040282 - Frequent	645
HP:0000141	HP:0000786	Primary amenorrhea	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0000141	HP:0000786	Primary amenorrhea	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000141	HP:0000786	Primary amenorrhea	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0000141	HP:0000786	Primary amenorrhea	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0000141	HP:0000786	Primary amenorrhea	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0000141	HP:0000786	Primary amenorrhea	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000141	HP:0000786	Primary amenorrhea	1	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0000141	HP:0000786	Primary amenorrhea	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4	.	4
HP:0000141	HP:0000786	Primary amenorrhea	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000141	HP:0000786	Primary amenorrhea	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000786	Primary amenorrhea	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	25
HP:0000141	HP:0000869	Secondary amenorrhea	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional	25
HP:0000141	HP:0000786	Primary amenorrhea	1	MRPS22 CL E G H	56945	14508	OMIM:618117	Ovarian dysgenesis 7	.	25
HP:0000141	HP:0000869	Secondary amenorrhea	1	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0000141	HP:0000786	Primary amenorrhea	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0000141	HP:0000786	Primary amenorrhea	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0000141	HP:0000786	Primary amenorrhea	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0000141	HP:0000786	Primary amenorrhea	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0000141	HP:0000786	Primary amenorrhea	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0000141	HP:0000786	Primary amenorrhea	1	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0000141	HP:0000786	Primary amenorrhea	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000141	HP:0000786	Primary amenorrhea	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0000141	HP:0000786	Primary amenorrhea	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0000141	HP:0000786	Primary amenorrhea	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0000141	HP:0000786	Primary amenorrhea	1	NOBOX CL E G H	135935	22448	OMIM:611548	Premature ovarian failure 5	HP:0040283 - Occasional	40
HP:0000141	HP:0000869	Secondary amenorrhea	1	NOBOX CL E G H	135935	22448	OMIM:611548	Premature ovarian failure 5	HP:0040281 - Very frequent	40
HP:0000141	HP:0000786	Primary amenorrhea	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000141	HP:0000786	Primary amenorrhea	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000141	HP:0000869	Secondary amenorrhea	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0000141	HP:0000869	Secondary amenorrhea	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional	38
HP:0000141	HP:0000786	Primary amenorrhea	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000141	HP:0000786	Primary amenorrhea	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000141	HP:0000869	Secondary amenorrhea	1	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0000141	HP:0000786	Primary amenorrhea	1	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0000141	HP:0000869	Secondary amenorrhea	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0000141	HP:0000786	Primary amenorrhea	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0000141	HP:0000786	Primary amenorrhea	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	5
HP:0000141	HP:0000869	Secondary amenorrhea	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional	5
HP:0000141	HP:0000786	Primary amenorrhea	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0000141	HP:0000786	Primary amenorrhea	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0000141	HP:0000786	Primary amenorrhea	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0000141	HP:0000869	Secondary amenorrhea	1	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.	20
HP:0000141	HP:0000786	Primary amenorrhea	1	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.	65
HP:0000141	HP:0000786	Primary amenorrhea	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040282 - Frequent	169
HP:0000141	HP:0000786	Primary amenorrhea	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040282 - Frequent	98
HP:0000141	HP:0000786	Primary amenorrhea	1	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B	.	31
HP:0000141	HP:0000786	Primary amenorrhea	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0000141	HP:0000869	Secondary amenorrhea	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0000141	HP:0000869	Secondary amenorrhea	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0000141	HP:0000869	Secondary amenorrhea	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional
HP:0000141	HP:0000786	Primary amenorrhea	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0000141	HP:0000786	Primary amenorrhea	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000141	HP:0000786	Primary amenorrhea	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0000141	HP:0000869	Secondary amenorrhea	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040282 - Frequent	42
HP:0000141	HP:0000786	Primary amenorrhea	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040284 - Very rare	42
HP:0000141	HP:0000869	Secondary amenorrhea	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0000141	HP:0000786	Primary amenorrhea	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	.	9
HP:0000141	HP:0000786	Primary amenorrhea	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0000141	HP:0000869	Secondary amenorrhea	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	9
HP:0000141	HP:0000786	Primary amenorrhea	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0000141	HP:0000786	Primary amenorrhea	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0000141	HP:0000786	Primary amenorrhea	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0000141	HP:0000869	Secondary amenorrhea	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0000141	HP:0000786	Primary amenorrhea	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0000141	HP:0000786	Primary amenorrhea	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	34
HP:0000141	HP:0000786	Primary amenorrhea	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000141	HP:0000786	Primary amenorrhea	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000141	HP:0000869	Secondary amenorrhea	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional	2
HP:0000141	HP:0000786	Primary amenorrhea	1	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3	.	2
HP:0000141	HP:0000869	Secondary amenorrhea	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	4
HP:0000141	HP:0000786	Primary amenorrhea	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000786	Primary amenorrhea	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000786	Primary amenorrhea	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0000141	HP:0000869	Secondary amenorrhea	1	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0000141	HP:0000786	Primary amenorrhea	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	7
HP:0000141	HP:0000786	Primary amenorrhea	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	.	14
HP:0000141	HP:0000786	Primary amenorrhea	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	14
HP:0000141	HP:0000786	Primary amenorrhea	1	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	16
HP:0000141	HP:0000786	Primary amenorrhea	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0000141	HP:0000786	Primary amenorrhea	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0000141	HP:0000786	Primary amenorrhea	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0000141	HP:0000786	Primary amenorrhea	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000141	HP:0000786	Primary amenorrhea	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000786	Primary amenorrhea	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000141	HP:0000786	Primary amenorrhea	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0000141	HP:0000786	Primary amenorrhea	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0000141	HP:0000786	Primary amenorrhea	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0000141	HP:0000786	Primary amenorrhea	1	SOHLH1 CL E G H	402381	27845	OMIM:617690	Ovarian dysgenesis 5	.	3
HP:0000141	HP:0000786	Primary amenorrhea	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	61
HP:0000141	HP:0000786	Primary amenorrhea	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000141	HP:0000786	Primary amenorrhea	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000141	HP:0000869	Secondary amenorrhea	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional	2
HP:0000141	HP:0000786	Primary amenorrhea	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0000141	HP:0000786	Primary amenorrhea	1	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	5
HP:0000141	HP:0000786	Primary amenorrhea	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	5
HP:0000141	HP:0000786	Primary amenorrhea	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0000141	HP:0000869	Secondary amenorrhea	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	5
HP:0000141	HP:0000786	Primary amenorrhea	1	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0000141	HP:0000786	Primary amenorrhea	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000141	HP:0000786	Primary amenorrhea	1	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0000141	HP:0000786	Primary amenorrhea	1	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8	.	4
HP:0000141	HP:0000786	Primary amenorrhea	1	SYCE1 CL E G H	93426	28852	OMIM:616947	PREMATURE OVARIAN FAILURE 12; POF12		4
HP:0000141	HP:0000786	Primary amenorrhea	1	TAC3 CL E G H	6866	11521	OMIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia	.	6
HP:0000141	HP:0000869	Secondary amenorrhea	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	6
HP:0000141	HP:0000786	Primary amenorrhea	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0000141	HP:0000786	Primary amenorrhea	1	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia	.	34
HP:0000141	HP:0000786	Primary amenorrhea	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0000141	HP:0000869	Secondary amenorrhea	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	34
HP:0000141	HP:0000786	Primary amenorrhea	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0000141	HP:0000869	Secondary amenorrhea	1	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8	.	1
HP:0000141	HP:0000869	Secondary amenorrhea	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional	4
HP:0000141	HP:0000869	Secondary amenorrhea	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0000141	HP:0000786	Primary amenorrhea	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0000141	HP:0000786	Primary amenorrhea	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional	7
HP:0000141	HP:0000786	Primary amenorrhea	1	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.	113
HP:0000141	HP:0000869	Secondary amenorrhea	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0000141	HP:0000869	Secondary amenorrhea	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0000141	HP:0000786	Primary amenorrhea	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000141	HP:0000786	Primary amenorrhea	1	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia	.	10
HP:0000141	HP:0000786	Primary amenorrhea	1	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	10
HP:0000141	HP:0000786	Primary amenorrhea	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	10
HP:0000141	HP:0000869	Secondary amenorrhea	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent	10
HP:0000141	HP:0000786	Primary amenorrhea	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0000141	HP:0000786	Primary amenorrhea	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040283 - Occasional	10
HP:0000141	HP:0000786	Primary amenorrhea	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0000141	HP:0000869	Secondary amenorrhea	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional	310
HP:0000141	HP:0000786	Primary amenorrhea	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000141	HP:0000786	Primary amenorrhea	1	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040281 - Very frequent	177
HP:0000141	HP:0000786	Primary amenorrhea	1	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000141	HP:0000786	Primary amenorrhea	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0000141	HP:0000786	Primary amenorrhea	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000141	HP:0000786	Primary amenorrhea	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0000141	HP:0000786	Primary amenorrhea	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0000141	HP:0000869	Secondary amenorrhea	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040283 - Occasional
HP:0000141	HP:0000786	Primary amenorrhea	1	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10

Genes (191) :AGPAT2 AIP AKT1 ANOS1 ANTXR1 AR ATRX AXL BAP1 BMP15 BMP2 BMP6 BMPR1B BNC1 BPTF BRAF BRD4 BSCL2 C14ORF39 CAV1 CAVIN1 CCDC141 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CDON CHD7 CISD2 CLPP CPE CTDP1 CYB5A CYP17A1 CYP19A1 DCC DHH DHX37 DIAPH2 DMRT3 DUSP6 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ERAL1 ERCC6 ESR1 ESR2 FEZF1 FGF17 FGF8 FGFR1 FIGLA FLRT3 FOS FOXA2 FOXL2 FSHB FSHR GALT GATA3 GATA4 GDF9 GLI2 GNRH1 GNRHR GPR161 HAMP HARS2 HDAC8 HERC2 HESX1 HFE HFM1 HJV HS6ST1 HSD17B4 HSF2BP IL17RD IPW ITGA8 KISS1 KISS1R LARS2 LEP LEPR LHB LHX4 LIG4 LMNA MAGEL2 MAP3K1 MCM8 MCM9 MEN1 MKRN3 MKRN3-AS1 MRPS22 MSH4 MSH5 MSTO1 NDN NDNF NF2 NIN NIPBL NOBOX NPAP1 NR0B1 NR3C1 NR5A1 NSMF NUP107 OCA2 OTX2 PAPSS2 PCSK1 PDGFB PEX1 PEX6 PIK3CA POF1B POLG POLG2 POLR3H POR POU1F1 PPARG PRKAR1A PRLR PROK2 PROKR2 PROP1 PRORP PSMC3IP PSMD12 PWAR1 PWRN1 RAD21 RCBTB1 ROBO1 SEMA3A SEMA3E SIM1 SLC29A3 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SMO SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOX10 SOX3 SOX9 SPIDR SPRY4 SRA1 SRY STAG3 SUFU SYCE1 TAC3 TACR3 TBL1X TERT TFR2 TKT TP53 TP63 TRAF7 TRMT10A TWNK USP48 USP8 VAMP7 WDR11 WNT4 WNT7A WRN WT1 WWOX YARS1 ZFPM2 ZSWIM7

Diseases (138) :ORPHA:528 ORPHA:99725 ORPHA:2965 ORPHA:2495 ORPHA:478 ORPHA:2067 OMIM:300068 ORPHA:99429 ORPHA:90797 ORPHA:96253 OMIM:146110 ORPHA:243 OMIM:300510 OMIM:235200 ORPHA:465508 OMIM:609441 ORPHA:529962 ORPHA:199 OMIM:619203 OMIM:612526 ORPHA:652 ORPHA:95496 ORPHA:432 OMIM:604928 OMIM:614129 OMIM:619326 OMIM:604168 ORPHA:90796 OMIM:202110 ORPHA:90793 OMIM:613546 ORPHA:91 OMIM:607080 ORPHA:168563 OMIM:233420 OMIM:273250 ORPHA:251510 OMIM:300511 OMIM:603896 OMIM:617565 OMIM:616946 OMIM:615363 ORPHA:785 OMIM:618187 OMIM:616030 OMIM:612702 OMIM:147950 OMIM:612310 ORPHA:95494 OMIM:110100 ORPHA:572333 OMIM:608996 OMIM:229070 ORPHA:52901 OMIM:233300 ORPHA:79239 OMIM:146255 OMIM:618014 OMIM:614841 OMIM:613313 OMIM:614926 OMIM:176270 OMIM:615724 OMIM:602390 OMIM:614880 OMIM:233400 OMIM:619245 OMIM:191830 OMIM:614837 OMIM:615300 OMIM:614962 ORPHA:66628 ORPHA:179494 OMIM:228300 OMIM:606593 ORPHA:79474 ORPHA:280365 ORPHA:2348 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:612885 OMIM:616185 OMIM:618117 OMIM:619938 OMIM:617442 ORPHA:502423 OMIM:617675 OMIM:618841 ORPHA:319675 OMIM:614851 OMIM:611548 OMIM:612964 OMIM:612847 OMIM:600955 ORPHA:3220 OMIM:300604 OMIM:157640 OMIM:258450 OMIM:619425 ORPHA:95699 OMIM:604367 ORPHA:79083 OMIM:610489 ORPHA:397685 OMIM:610628 OMIM:244200 ORPHA:90695 OMIM:619737 OMIM:614324 OMIM:617175 OMIM:614897 ORPHA:398079 ORPHA:168569 OMIM:603457 OMIM:617690 OMIM:619665 OMIM:400044 OMIM:615723 OMIM:616947 OMIM:614839 OMIM:614840 OMIM:301033 OMIM:604250 ORPHA:488618 ORPHA:69085 OMIM:616033 OMIM:616138 OMIM:614858 ORPHA:247768 OMIM:158330 OMIM:228930 ORPHA:902 OMIM:136680 ORPHA:347 OMIM:619418 OMIM:619834

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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