Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of reproductive system physiology (HP:0000080)

Parent Node:
Decreased fertility (HP:0000144)

..Starting node
..Infertility (HP:0000789)

Term ID:

789

Name:

Infertility

Synonym:

Infertility

Definition:

Comments:

Reference:

HP:0000789

Genes and Diseases:

Child Nodes:

........

Male infertility (HP:0003251)

........

Female infertility (HP:0008222)

Sister Nodes:

Decreased fertility in females (HP:0000868)

Decreased fertility in males (HP:0012041)

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:0000789	HP:0000789	Infertility	0	ACTL9 CL E G H	284382	28494	OMIM:619258	SPERMATOGENIC FAILURE 53; SPGF53
HP:0000789	HP:0000789	Infertility	0	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens		5
HP:0000789	HP:0000789	Infertility	0	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked		5
HP:0000789	HP:0000789	Infertility	0	AK7 CL E G H	122481	20091	OMIM:617965	Spermatogenic failure 27	.	5
HP:0000789	HP:0000789	Infertility	0	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0000789	HP:0000789	Infertility	0	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0000789	HP:0000789	Infertility	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0000789	HP:0000789	Infertility	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0000789	HP:0000789	Infertility	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome	.	125
HP:0000789	HP:0000789	Infertility	0	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0000789	HP:0000789	Infertility	0	ASTL CL E G H	431705	31704	OMIM:619643	OOCYTE MATURATION DEFECT 11; OOMD11
HP:0000789	HP:0000789	Infertility	0	AURKC CL E G H	6795	11391	OMIM:243060	Male infertility with large-headed, multiflagellar, polyploid spermatozoa		12
HP:0000789	HP:0000789	Infertility	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional
HP:0000789	HP:0000789	Infertility	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0000789	HP:0000789	Infertility	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0000789	HP:0000789	Infertility	0	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0000789	HP:0000789	Infertility	0	BRDT CL E G H	676	1105	OMIM:617644	Spermatogenic failure 21	.	1
HP:0000789	HP:0000789	Infertility	0	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0000789	HP:0000789	Infertility	0	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0000789	HP:0000789	Infertility	0	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0000789	HP:0000789	Infertility	0	C2CD6 CL E G H	151254	14438	OMIM:619805	SPERMATOGENIC FAILURE 68; SPGF68		1
HP:0000789	HP:0000789	Infertility	0	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0000789	HP:0000789	Infertility	0	CATSPER1 CL E G H	117144	17116	OMIM:612997	Spermatogenic failure 7		45
HP:0000789	HP:0000789	Infertility	0	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility		12
HP:0000789	HP:0000789	Infertility	0	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome		12
HP:0000789	HP:0000789	Infertility	0	CATSPER2 CL E G H	117155	18810	OMIM:612997	Spermatogenic failure 7		12
HP:0000789	HP:0000789	Infertility	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia		36
HP:0000789	HP:0000789	Infertility	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional
HP:0000789	HP:0000789	Infertility	0	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0000789	HP:0000789	Infertility	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0000789	HP:0000789	Infertility	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia		126
HP:0000789	HP:0000789	Infertility	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0000789	HP:0000789	Infertility	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia		182
HP:0000789	HP:0000789	Infertility	0	CCDC62 CL E G H	84660	30723	OMIM:619803	SPERMATOGENIC FAILURE 67; SPGF67
HP:0000789	HP:0000789	Infertility	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia		23
HP:0000789	HP:0000789	Infertility	0	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29	HP:0040283 - Occasional	23
HP:0000789	HP:0000789	Infertility	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia		23
HP:0000789	HP:0000789	Infertility	0	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm	HP:0040284 - Very rare	2
HP:0000789	HP:0000789	Infertility	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0000789	HP:0000789	Infertility	0	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	CEP112 CL E G H	201134	28514	OMIM:619044	SPERMATOGENIC FAILURE 44; SPGF44		1
HP:0000789	HP:0000789	Infertility	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure	.	1
HP:0000789	HP:0000789	Infertility	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	CFAP251 CL E G H	144406	28506	OMIM:618152	Spermatogenic failure 33	.
HP:0000789	HP:0000789	Infertility	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26	.
HP:0000789	HP:0000789	Infertility	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0000789	HP:0000789	Infertility	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	CFAP43 CL E G H	80217	26684	OMIM:617592	Spermatogenic failure 19	.	6
HP:0000789	HP:0000789	Infertility	0	CFAP44 CL E G H	55779	25631	OMIM:617593	Spermatogenic failure 20	.	1
HP:0000789	HP:0000789	Infertility	0	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3		1
HP:0000789	HP:0000789	Infertility	0	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000789	HP:0000789	Infertility	0	CFAP58 CL E G H	159686	26676	OMIM:619144	SPERMATOGENIC FAILURE 49; SPGF49
HP:0000789	HP:0000789	Infertility	0	CFAP65 CL E G H	255101	25325	OMIM:618664	SPERMATOGENIC FAILURE 40; SPGF40		1
HP:0000789	HP:0000789	Infertility	0	CFAP70 CL E G H	118491	30726	OMIM:618670	SPERMATOGENIC FAILURE 41; SPGF41
HP:0000789	HP:0000789	Infertility	0	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens		1371
HP:0000789	HP:0000789	Infertility	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0000789	HP:0000789	Infertility	0	CFTR CL E G H	1080	1884	OMIM:277180	Vas deferens, congenital bilateral aplasia of		1371
HP:0000789	HP:0000789	Infertility	0	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0000789	HP:0000789	Infertility	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0000789	HP:0000789	Infertility	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0000789	HP:0000789	Infertility	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency		60
HP:0000789	HP:0000789	Infertility	0	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion
HP:0000789	HP:0000789	Infertility	0	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion
HP:0000789	HP:0000789	Infertility	0	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion
HP:0000789	HP:0000789	Infertility	0	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion
HP:0000789	HP:0000789	Infertility	0	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion
HP:0000789	HP:0000789	Infertility	0	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0000789	HP:0000789	Infertility	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0000789	HP:0000789	Infertility	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0000789	HP:0000789	Infertility	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0000789	HP:0000789	Infertility	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia		116
HP:0000789	HP:0000789	Infertility	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0000789	HP:0000789	Infertility	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia		78
HP:0000789	HP:0000789	Infertility	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0000789	HP:0000789	Infertility	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia		63
HP:0000789	HP:0000789	Infertility	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0000789	HP:0000789	Infertility	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia		27
HP:0000789	HP:0000789	Infertility	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0000789	HP:0000789	Infertility	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia		62
HP:0000789	HP:0000789	Infertility	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0000789	HP:0000789	Infertility	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.	21
HP:0000789	HP:0000789	Infertility	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia		21
HP:0000789	HP:0000789	Infertility	0	DNAH1 CL E G H	25981	2940	OMIM:617576	Spermatogenic failure 18	.	21
HP:0000789	HP:0000789	Infertility	0	DNAH10 CL E G H	196385	2941	OMIM:619515	SPERMATOGENIC FAILURE 56; SPGF56		18
HP:0000789	HP:0000789	Infertility	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia		542
HP:0000789	HP:0000789	Infertility	0	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0000789	HP:0000789	Infertility	0	DNAH2 CL E G H	146754	2948	OMIM:619094	SPERMATOGENIC FAILURE 45; SPGF45		15
HP:0000789	HP:0000789	Infertility	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia		527
HP:0000789	HP:0000789	Infertility	0	DNAH8 CL E G H	1769	2952	OMIM:619095	SPERMATOGENIC FAILURE 46; SPGF46		153
HP:0000789	HP:0000789	Infertility	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	.	18
HP:0000789	HP:0000789	Infertility	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia		18
HP:0000789	HP:0000789	Infertility	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0000789	HP:0000789	Infertility	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia		73
HP:0000789	HP:0000789	Infertility	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0000789	HP:0000789	Infertility	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia		104
HP:0000789	HP:0000789	Infertility	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0000789	HP:0000789	Infertility	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia		2
HP:0000789	HP:0000789	Infertility	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia		167
HP:0000789	HP:0000789	Infertility	0	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0000789	HP:0000789	Infertility	0	DPY19L2 CL E G H	283417	19414	OMIM:613958	Spermatogenic failure 9		17
HP:0000789	HP:0000789	Infertility	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia		44
HP:0000789	HP:0000789	Infertility	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional	4
HP:0000789	HP:0000789	Infertility	0	DZIP1 CL E G H	22873	20908	OMIM:619102	SPERMATOGENIC FAILURE 47; SPGF47
HP:0000789	HP:0000789	Infertility	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0000789	HP:0000789	Infertility	0	FBXO43 CL E G H	286151	28521	OMIM:619697	OOCYTE MATURATION DEFECT 12; OOMD12
HP:0000789	HP:0000789	Infertility	0	FBXO43 CL E G H	286151	28521	OMIM:619696	SPERMATOGENIC FAILURE 64; SPGF64
HP:0000789	HP:0000789	Infertility	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0000789	HP:0000789	Infertility	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional	2
HP:0000789	HP:0000789	Infertility	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional	3
HP:0000789	HP:0000789	Infertility	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000789	HP:0000789	Infertility	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0000789	HP:0000789	Infertility	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0000789	HP:0000789	Infertility	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis		92
HP:0000789	HP:0000789	Infertility	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0000789	HP:0000789	Infertility	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia	.	23
HP:0000789	HP:0000789	Infertility	0	FSIP2 CL E G H	401024	21675	OMIM:618153	Spermatogenic failure 34	.	1
HP:0000789	HP:0000789	Infertility	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0000789	HP:0000789	Infertility	0	GAS2L2 CL E G H	246176	24846	OMIM:618449	Ciliary dyskinesia, primary, 41	.	1
HP:0000789	HP:0000789	Infertility	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia		1
HP:0000789	HP:0000789	Infertility	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia		9
HP:0000789	HP:0000789	Infertility	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0000789	HP:0000789	Infertility	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0000789	HP:0000789	Infertility	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional	30
HP:0000789	HP:0000789	Infertility	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0000789	HP:0000789	Infertility	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0000789	HP:0000789	Infertility	0	GGN CL E G H	199720	18869	OMIM:619826	SPERMATOGENIC FAILURE 69; SPGF69
HP:0000789	HP:0000789	Infertility	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000789	HP:0000789	Infertility	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0000789	HP:0000789	Infertility	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional	15
HP:0000789	HP:0000789	Infertility	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional	92
HP:0000789	HP:0000789	Infertility	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1	.	8
HP:0000789	HP:0000789	Infertility	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000789	HP:0000789	Infertility	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0000789	HP:0000789	Infertility	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0000789	HP:0000789	Infertility	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A	.
HP:0000789	HP:0000789	Infertility	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000789	HP:0000789	Infertility	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0000789	HP:0000789	Infertility	0	HSD17B3 CL E G H	3293	5212	ORPHA:752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	HP:0040281 - Very frequent	31
HP:0000789	HP:0000789	Infertility	0	HSD17B3 CL E G H	3293	5212	OMIM:264300	Pseudohermaphroditism, male, with gynecomastia	.	31
HP:0000789	HP:0000789	Infertility	0	HSF2BP CL E G H	11077	5226	OMIM:619245	PREMATURE OVARIAN FAILURE 19; POF19		1
HP:0000789	HP:0000789	Infertility	0	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		1
HP:0000789	HP:0000789	Infertility	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia		21
HP:0000789	HP:0000789	Infertility	0	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58		3
HP:0000789	HP:0000789	Infertility	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000789	HP:0000789	Infertility	0	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	KLHL10 CL E G H	317719	18829	OMIM:615081	SPERMATOGENIC FAILURE 11; SPGF11		3
HP:0000789	HP:0000789	Infertility	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty		67
HP:0000789	HP:0000789	Infertility	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0000789	HP:0000789	Infertility	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0000789	HP:0000789	Infertility	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040281 - Very frequent	63
HP:0000789	HP:0000789	Infertility	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000789	HP:0000789	Infertility	0	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:0000789	HP:0000789	Infertility	0	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:0000789	HP:0000789	Infertility	0	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:0000789	HP:0000789	Infertility	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0000789	HP:0000789	Infertility	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0000789	HP:0000789	Infertility	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia		13
HP:0000789	HP:0000789	Infertility	0	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3	.
HP:0000789	HP:0000789	Infertility	0	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22	.
HP:0000789	HP:0000789	Infertility	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000789	HP:0000789	Infertility	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000789	HP:0000789	Infertility	0	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000789	HP:0000789	Infertility	0	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0000789	HP:0000789	Infertility	0	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0000789	HP:0000789	Infertility	0	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0000789	HP:0000789	Infertility	0	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0000789	HP:0000789	Infertility	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0000789	HP:0000789	Infertility	0	NANOS1 CL E G H	340719	23044	OMIM:615413	SPERMATOGENIC FAILURE 12; SPGF12		4
HP:0000789	HP:0000789	Infertility	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0000789	HP:0000789	Infertility	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0000789	HP:0000789	Infertility	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0000789	HP:0000789	Infertility	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia		50
HP:0000789	HP:0000789	Infertility	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000789	HP:0000789	Infertility	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0000789	HP:0000789	Infertility	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040283 - Occasional	79
HP:0000789	HP:0000789	Infertility	0	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	HP:0040283 - Occasional	79
HP:0000789	HP:0000789	Infertility	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0000789	HP:0000789	Infertility	0	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:0000789	HP:0000789	Infertility	0	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:0000789	HP:0000789	Infertility	0	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:0000789	HP:0000789	Infertility	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia		201
HP:0000789	HP:0000789	Infertility	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0000789	HP:0000789	Infertility	0	PADI6 CL E G H	353238	20449	OMIM:617234	Preimplantation embryonic lethality 2	.	5
HP:0000789	HP:0000789	Infertility	0	PANX1 CL E G H	24145	8599	ORPHA:488191	Female infertility due to oocyte meiotic arrest		1
HP:0000789	HP:0000789	Infertility	0	PANX1 CL E G H	24145	8599	OMIM:618550	OOCYTE MATURATION DEFECT 7; OOMD7		1
HP:0000789	HP:0000789	Infertility	0	PATL2 CL E G H	197135	33630	ORPHA:488191	Female infertility due to oocyte meiotic arrest
HP:0000789	HP:0000789	Infertility	0	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4	.
HP:0000789	HP:0000789	Infertility	0	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0000789	HP:0000789	Infertility	0	PGR CL E G H	5241	8910	OMIM:264080	Progesterone resistance
HP:0000789	HP:0000789	Infertility	0	PLCZ1 CL E G H	89869	19218	OMIM:617214	Spermatogenic failure 17	.	1
HP:0000789	HP:0000789	Infertility	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent	19
HP:0000789	HP:0000789	Infertility	0	PMFBP1 CL E G H	83449	17728	ORPHA:529970	Male infertility due to acephalic spermatozoa
HP:0000789	HP:0000789	Infertility	0	PMFBP1 CL E G H	83449	17728	OMIM:618112	SPERMATOGENIC FAILURE 31; SPGF31
HP:0000789	HP:0000789	Infertility	0	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0000789	HP:0000789	Infertility	0	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0000789	HP:0000789	Infertility	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0000789	HP:0000789	Infertility	0	PPP2R3C CL E G H	55012	17485	OMIM:618420	Spermatogenic failure 36
HP:0000789	HP:0000789	Infertility	0	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia	HP:0040282 - Frequent	2
HP:0000789	HP:0000789	Infertility	0	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA	HP:0040283 - Occasional	2
HP:0000789	HP:0000789	Infertility	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0000789	HP:0000789	Infertility	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0000789	HP:0000789	Infertility	0	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		5
HP:0000789	HP:0000789	Infertility	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0000789	HP:0000789	Infertility	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0000789	HP:0000789	Infertility	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000789	HP:0000789	Infertility	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000789	HP:0000789	Infertility	0	QRICH2 CL E G H	84074	25326	OMIM:618341	Spermatogenic failure 35	.
HP:0000789	HP:0000789	Infertility	0	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion
HP:0000789	HP:0000789	Infertility	0	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0000789	HP:0000789	Infertility	0	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0000789	HP:0000789	Infertility	0	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	.	10
HP:0000789	HP:0000789	Infertility	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia		200
HP:0000789	HP:0000789	Infertility	0	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0000789	HP:0000789	Infertility	0	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0000789	Infertility	0	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24	.	31
HP:0000789	HP:0000789	Infertility	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia		31
HP:0000789	HP:0000789	Infertility	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.	5
HP:0000789	HP:0000789	Infertility	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia		5
HP:0000789	HP:0000789	Infertility	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia		58
HP:0000789	HP:0000789	Infertility	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia		20
HP:0000789	HP:0000789	Infertility	0	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional	16
HP:0000789	HP:0000789	Infertility	0	SEPTIN12 CL E G H	124404	26348	OMIM:614822	Spermatogenic failure 10	.
HP:0000789	HP:0000789	Infertility	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0000789	HP:0000789	Infertility	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040281 - Very frequent	40
HP:0000789	HP:0000789	Infertility	0	SLC26A8 CL E G H	116369	14468	OMIM:606766	Spermatogenic failure 3	.	3
HP:0000789	HP:0000789	Infertility	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000789	HP:0000789	Infertility	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000789	HP:0000789	Infertility	0	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:0000789	HP:0000789	Infertility	0	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:0000789	HP:0000789	Infertility	0	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:0000789	HP:0000789	Infertility	0	SOHLH1 CL E G H	402381	27845	OMIM:618115	Spermatogenic failure 32	.	3
HP:0000789	HP:0000789	Infertility	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0000789	HP:0000789	Infertility	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0000789	HP:0000789	Infertility	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia		45
HP:0000789	HP:0000789	Infertility	0	SPAG17 CL E G H	200162	26620	OMIM:619380	SPERMATOGENIC FAILURE 55; SPGF55		2
HP:0000789	HP:0000789	Infertility	0	SPATA16 CL E G H	83893	29935	OMIM:102530	SPERMATOGENIC FAILURE 6; SPGF6		31
HP:0000789	HP:0000789	Infertility	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia		15
HP:0000789	HP:0000789	Infertility	0	SPEF2 CL E G H	79925	26293	OMIM:618751	SPERMATOGENIC FAILURE 43; SPGF43		15
HP:0000789	HP:0000789	Infertility	0	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional	5
HP:0000789	HP:0000789	Infertility	0	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional
HP:0000789	HP:0000789	Infertility	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0000789	HP:0000789	Infertility	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0000789	HP:0000789	Infertility	0	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0000789	HP:0000789	Infertility	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia		3
HP:0000789	HP:0000789	Infertility	0	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility		78
HP:0000789	HP:0000789	Infertility	0	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome		78
HP:0000789	HP:0000789	Infertility	0	STRC CL E G H	161497	16035	OMIM:612997	Spermatogenic failure 7		78
HP:0000789	HP:0000789	Infertility	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare	14
HP:0000789	HP:0000789	Infertility	0	SUN5 CL E G H	140732	16252	ORPHA:529970	Male infertility due to acephalic spermatozoa		6
HP:0000789	HP:0000789	Infertility	0	SUN5 CL E G H	140732	16252	OMIM:617187	Spermatogenic failure 16	.	6
HP:0000789	HP:0000789	Infertility	0	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0000789	HP:0000789	Infertility	0	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0000789	HP:0000789	Infertility	0	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4		12
HP:0000789	HP:0000789	Infertility	0	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0000789	HP:0000789	Infertility	0	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0000789	HP:0000789	Infertility	0	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2		5
HP:0000789	HP:0000789	Infertility	0	TEX14 CL E G H	56155	11737	OMIM:617707	Spermatogenic failure 23	.	1
HP:0000789	HP:0000789	Infertility	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0000789	HP:0000789	Infertility	0	TLE6 CL E G H	79816	30788	OMIM:616814	Preimplantation embryonic lethality 1		1
HP:0000789	HP:0000789	Infertility	0	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9		2
HP:0000789	HP:0000789	Infertility	0	TSGA10 CL E G H	80705	14927	OMIM:617961	Spermatogenic failure 26	.
HP:0000789	HP:0000789	Infertility	0	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion
HP:0000789	HP:0000789	Infertility	0	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0000789	HP:0000789	Infertility	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0000789	HP:0000789	Infertility	0	TTC21A CL E G H	199223	30761	OMIM:618429	Spermatogenic failure 37
HP:0000789	HP:0000789	Infertility	0	TTC29 CL E G H	83894	29936	OMIM:618745	SPERMATOGENIC FAILURE 42; SPGF42
HP:0000789	HP:0000789	Infertility	0	TUBB8 CL E G H	347688	20773	ORPHA:488191	Female infertility due to oocyte meiotic arrest		10
HP:0000789	HP:0000789	Infertility	0	TUBB8 CL E G H	347688	20773	OMIM:616780	Oocyte maturation defect 2		10
HP:0000789	HP:0000789	Infertility	0	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion		2
HP:0000789	HP:0000789	Infertility	0	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0000789	HP:0000789	Infertility	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0000789	HP:0000789	Infertility	0	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0000789	HP:0000789	Infertility	0	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	HP:0040283 - Occasional	10
HP:0000789	HP:0000789	Infertility	0	WDR19 CL E G H	57728	18340	OMIM:619867			95
HP:0000789	HP:0000789	Infertility	0	WEE2 CL E G H	494551	19684	ORPHA:488191	Female infertility due to oocyte meiotic arrest
HP:0000789	HP:0000789	Infertility	0	WEE2 CL E G H	494551	19684	OMIM:617996	Oocyte maturation defect 5	.
HP:0000789	HP:0000789	Infertility	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0000789	HP:0000789	Infertility	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0000789	HP:0000789	Infertility	0	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0000789	HP:0000789	Infertility	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0000789	HP:0000789	Infertility	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0000789	HP:0000789	Infertility	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia		20
HP:0000789	HP:0000789	Infertility	0	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0000789	HP:0000789	Infertility	0	ZP1 CL E G H	22917	13187	OMIM:615774	Oocyte maturation defect	.	1
HP:0000789	HP:0000789	Infertility	0	ZP2 CL E G H	7783	13188	OMIM:618353	OOCYTE MATURATION DEFECT 6; OOMD6
HP:0000789	HP:0000789	Infertility	0	ZP3 CL E G H	7784	13189	OMIM:617712	Oocyte maturation defect 3	.
HP:0000789	HP:0000789	Infertility	0	ZPBP CL E G H	11055	15662	OMIM:619799	SPERMATOGENIC FAILURE 66; SPGF66
HP:0000789	HP:0000789	Infertility	0	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71
HP:0000789	HP:0003251	Male infertility	1	ACTL9 CL E G H	284382	28494	OMIM:619258	SPERMATOGENIC FAILURE 53; SPGF53
HP:0000789	HP:0003251	Male infertility	1	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	5
HP:0000789	HP:0003251	Male infertility	1	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked		5
HP:0000789	HP:0003251	Male infertility	1	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0000789	HP:0003251	Male infertility	1	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0000789	HP:0003251	Male infertility	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0000789	HP:0003251	Male infertility	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0000789	HP:0003251	Male infertility	1	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0000789	HP:0008222	Female infertility	1	ASTL CL E G H	431705	31704	OMIM:619643	OOCYTE MATURATION DEFECT 11; OOMD11
HP:0000789	HP:0003251	Male infertility	1	AURKC CL E G H	6795	11391	OMIM:243060	Male infertility with large-headed, multiflagellar, polyploid spermatozoa	.	12
HP:0000789	HP:0003251	Male infertility	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0000789	HP:0003251	Male infertility	1	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0003251	Male infertility	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0000789	HP:0008222	Female infertility	1	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0000789	HP:0008222	Female infertility	1	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0000789	HP:0003251	Male infertility	1	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0000789	HP:0003251	Male infertility	1	C2CD6 CL E G H	151254	14438	OMIM:619805	SPERMATOGENIC FAILURE 68; SPGF68		1
HP:0000789	HP:0003251	Male infertility	1	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0000789	HP:0003251	Male infertility	1	CATSPER1 CL E G H	117144	17116	OMIM:612997	Spermatogenic failure 7	.	45
HP:0000789	HP:0003251	Male infertility	1	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility	.	12
HP:0000789	HP:0003251	Male infertility	1	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent	12
HP:0000789	HP:0003251	Male infertility	1	CATSPER2 CL E G H	117155	18810	OMIM:612997	Spermatogenic failure 7	.	12
HP:0000789	HP:0003251	Male infertility	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	36
HP:0000789	HP:0008222	Female infertility	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	36
HP:0000789	HP:0003251	Male infertility	1	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0000789	HP:0003251	Male infertility	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0000789	HP:0008222	Female infertility	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	126
HP:0000789	HP:0003251	Male infertility	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	126
HP:0000789	HP:0003251	Male infertility	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	182
HP:0000789	HP:0008222	Female infertility	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	182
HP:0000789	HP:0003251	Male infertility	1	CCDC62 CL E G H	84660	30723	OMIM:619803	SPERMATOGENIC FAILURE 67; SPGF67
HP:0000789	HP:0008222	Female infertility	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0000789	HP:0003251	Male infertility	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0000789	HP:0003251	Male infertility	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0000789	HP:0008222	Female infertility	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0000789	HP:0003251	Male infertility	1	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm		2
HP:0000789	HP:0003251	Male infertility	1	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0003251	Male infertility	1	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0003251	Male infertility	1	CEP112 CL E G H	201134	28514	OMIM:619044	SPERMATOGENIC FAILURE 44; SPGF44		1
HP:0000789	HP:0003251	Male infertility	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0008222	Female infertility	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0008222	Female infertility	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0003251	Male infertility	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0008222	Female infertility	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0003251	Male infertility	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0003251	Male infertility	1	CFAP43 CL E G H	80217	26684	OMIM:617592	Spermatogenic failure 19		6
HP:0000789	HP:0003251	Male infertility	1	CFAP44 CL E G H	55779	25631	OMIM:617593	Spermatogenic failure 20		1
HP:0000789	HP:0003251	Male infertility	1	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3		1
HP:0000789	HP:0003251	Male infertility	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0000789	HP:0003251	Male infertility	1	CFAP58 CL E G H	159686	26676	OMIM:619144	SPERMATOGENIC FAILURE 49; SPGF49
HP:0000789	HP:0003251	Male infertility	1	CFAP65 CL E G H	255101	25325	OMIM:618664	SPERMATOGENIC FAILURE 40; SPGF40		1
HP:0000789	HP:0003251	Male infertility	1	CFAP70 CL E G H	118491	30726	OMIM:618670	SPERMATOGENIC FAILURE 41; SPGF41
HP:0000789	HP:0003251	Male infertility	1	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	1371
HP:0000789	HP:0003251	Male infertility	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0000789	HP:0003251	Male infertility	1	CFTR CL E G H	1080	1884	OMIM:277180	Vas deferens, congenital bilateral aplasia of		1371
HP:0000789	HP:0003251	Male infertility	1	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0000789	HP:0003251	Male infertility	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0000789	HP:0003251	Male infertility	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0000789	HP:0003251	Male infertility	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0000789	HP:0008222	Female infertility	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0000789	HP:0003251	Male infertility	1	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000789	HP:0003251	Male infertility	1	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0003251	Male infertility	1	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000789	HP:0003251	Male infertility	1	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0003251	Male infertility	1	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000789	HP:0003251	Male infertility	1	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0003251	Male infertility	1	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000789	HP:0003251	Male infertility	1	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000789	HP:0003251	Male infertility	1	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0003251	Male infertility	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000789	HP:0003251	Male infertility	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0000789	HP:0008222	Female infertility	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	116
HP:0000789	HP:0003251	Male infertility	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	116
HP:0000789	HP:0003251	Male infertility	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0000789	HP:0003251	Male infertility	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0008222	Female infertility	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0008222	Female infertility	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	78
HP:0000789	HP:0003251	Male infertility	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	78
HP:0000789	HP:0008222	Female infertility	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	63
HP:0000789	HP:0003251	Male infertility	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	63
HP:0000789	HP:0008222	Female infertility	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	27
HP:0000789	HP:0003251	Male infertility	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	27
HP:0000789	HP:0003251	Male infertility	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0000789	HP:0008222	Female infertility	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	62
HP:0000789	HP:0003251	Male infertility	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	62
HP:0000789	HP:0008222	Female infertility	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0003251	Male infertility	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0008222	Female infertility	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0000789	HP:0003251	Male infertility	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0000789	HP:0003251	Male infertility	1	DNAH10 CL E G H	196385	2941	OMIM:619515	SPERMATOGENIC FAILURE 56; SPGF56		18
HP:0000789	HP:0003251	Male infertility	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	542
HP:0000789	HP:0008222	Female infertility	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	542
HP:0000789	HP:0003251	Male infertility	1	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0000789	HP:0003251	Male infertility	1	DNAH2 CL E G H	146754	2948	OMIM:619094	SPERMATOGENIC FAILURE 45; SPGF45		15
HP:0000789	HP:0008222	Female infertility	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	527
HP:0000789	HP:0003251	Male infertility	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	527
HP:0000789	HP:0003251	Male infertility	1	DNAH8 CL E G H	1769	2952	OMIM:619095	SPERMATOGENIC FAILURE 46; SPGF46		153
HP:0000789	HP:0003251	Male infertility	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	18
HP:0000789	HP:0008222	Female infertility	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	18
HP:0000789	HP:0003251	Male infertility	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0000789	HP:0003251	Male infertility	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	73
HP:0000789	HP:0008222	Female infertility	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	73
HP:0000789	HP:0003251	Male infertility	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0000789	HP:0003251	Male infertility	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	104
HP:0000789	HP:0008222	Female infertility	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	104
HP:0000789	HP:0003251	Male infertility	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0000789	HP:0008222	Female infertility	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	2
HP:0000789	HP:0003251	Male infertility	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	2
HP:0000789	HP:0008222	Female infertility	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	167
HP:0000789	HP:0003251	Male infertility	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	167
HP:0000789	HP:0003251	Male infertility	1	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0000789	HP:0003251	Male infertility	1	DPY19L2 CL E G H	283417	19414	OMIM:613958	Spermatogenic failure 9		17
HP:0000789	HP:0008222	Female infertility	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	44
HP:0000789	HP:0003251	Male infertility	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	44
HP:0000789	HP:0003251	Male infertility	1	DZIP1 CL E G H	22873	20908	OMIM:619102	SPERMATOGENIC FAILURE 47; SPGF47
HP:0000789	HP:0003251	Male infertility	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0000789	HP:0008222	Female infertility	1	FBXO43 CL E G H	286151	28521	OMIM:619697	OOCYTE MATURATION DEFECT 12; OOMD12
HP:0000789	HP:0003251	Male infertility	1	FBXO43 CL E G H	286151	28521	OMIM:619696	SPERMATOGENIC FAILURE 64; SPGF64
HP:0000789	HP:0003251	Male infertility	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0000789	HP:0008222	Female infertility	1	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0000789	HP:0003251	Male infertility	1	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0000789	HP:0003251	Male infertility	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0008222	Female infertility	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0008222	Female infertility	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0000789	HP:0008222	Female infertility	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0000789	HP:0003251	Male infertility	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040281 - Very frequent	351
HP:0000789	HP:0003251	Male infertility	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	1
HP:0000789	HP:0008222	Female infertility	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	1
HP:0000789	HP:0008222	Female infertility	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	9
HP:0000789	HP:0003251	Male infertility	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	9
HP:0000789	HP:0003251	Male infertility	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0000789	HP:0003251	Male infertility	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040282 - Frequent	51
HP:0000789	HP:0003251	Male infertility	1	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0000789	HP:0003251	Male infertility	1	GGN CL E G H	199720	18869	OMIM:619826	SPERMATOGENIC FAILURE 69; SPGF69
HP:0000789	HP:0008222	Female infertility	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0000789	HP:0008222	Female infertility	1	HSF2BP CL E G H	11077	5226	OMIM:619245	PREMATURE OVARIAN FAILURE 19; POF19		1
HP:0000789	HP:0003251	Male infertility	1	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		1
HP:0000789	HP:0008222	Female infertility	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0000789	HP:0003251	Male infertility	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0000789	HP:0003251	Male infertility	1	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58		3
HP:0000789	HP:0003251	Male infertility	1	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0003251	Male infertility	1	KLHL10 CL E G H	317719	18829	OMIM:615081	SPERMATOGENIC FAILURE 11; SPGF11		3
HP:0000789	HP:0003251	Male infertility	1	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040281 - Very frequent	67
HP:0000789	HP:0003251	Male infertility	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0008222	Female infertility	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0003251	Male infertility	1	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0000789	HP:0003251	Male infertility	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0000789	HP:0003251	Male infertility	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000789	HP:0008222	Female infertility	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	13
HP:0000789	HP:0003251	Male infertility	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	13
HP:0000789	HP:0008222	Female infertility	1	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3
HP:0000789	HP:0003251	Male infertility	1	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0000789	HP:0003251	Male infertility	1	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0000789	HP:0003251	Male infertility	1	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0000789	HP:0008222	Female infertility	1	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0000789	HP:0003251	Male infertility	1	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0000789	HP:0003251	Male infertility	1	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0000789	HP:0008222	Female infertility	1	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0000789	HP:0003251	Male infertility	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0008222	Female infertility	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0008222	Female infertility	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	50
HP:0000789	HP:0003251	Male infertility	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	50
HP:0000789	HP:0003251	Male infertility	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000789	HP:0003251	Male infertility	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000789	HP:0008222	Female infertility	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0003251	Male infertility	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0003251	Male infertility	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0008222	Female infertility	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0008222	Female infertility	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0003251	Male infertility	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0008222	Female infertility	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0003251	Male infertility	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0003251	Male infertility	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	201
HP:0000789	HP:0008222	Female infertility	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	201
HP:0000789	HP:0008222	Female infertility	1	PANX1 CL E G H	24145	8599	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate	1
HP:0000789	HP:0008222	Female infertility	1	PANX1 CL E G H	24145	8599	OMIM:618550	OOCYTE MATURATION DEFECT 7; OOMD7		1
HP:0000789	HP:0008222	Female infertility	1	PATL2 CL E G H	197135	33630	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate
HP:0000789	HP:0008222	Female infertility	1	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4
HP:0000789	HP:0003251	Male infertility	1	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0000789	HP:0008222	Female infertility	1	PGR CL E G H	5241	8910	OMIM:264080	Progesterone resistance	.
HP:0000789	HP:0003251	Male infertility	1	PMFBP1 CL E G H	83449	17728	ORPHA:529970	Male infertility due to acephalic spermatozoa	HP:0040281 - Very frequent
HP:0000789	HP:0003251	Male infertility	1	PMFBP1 CL E G H	83449	17728	OMIM:618112	SPERMATOGENIC FAILURE 31; SPGF31
HP:0000789	HP:0003251	Male infertility	1	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0000789	HP:0008222	Female infertility	1	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0000789	HP:0003251	Male infertility	1	PPP2R3C CL E G H	55012	17485	OMIM:618420	Spermatogenic failure 36
HP:0000789	HP:0003251	Male infertility	1	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0003251	Male infertility	1	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		5
HP:0000789	HP:0008222	Female infertility	1	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0000789	HP:0003251	Male infertility	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0000789	HP:0003251	Male infertility	1	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000789	HP:0003251	Male infertility	1	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0008222	Female infertility	1	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0000789	HP:0003251	Male infertility	1	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0000789	HP:0003251	Male infertility	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	200
HP:0000789	HP:0008222	Female infertility	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	200
HP:0000789	HP:0003251	Male infertility	1	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0000789	HP:0003251	Male infertility	1	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0000789	HP:0003251	Male infertility	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	31
HP:0000789	HP:0008222	Female infertility	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	31
HP:0000789	HP:0003251	Male infertility	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	5
HP:0000789	HP:0008222	Female infertility	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	5
HP:0000789	HP:0003251	Male infertility	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	58
HP:0000789	HP:0008222	Female infertility	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	58
HP:0000789	HP:0003251	Male infertility	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0000789	HP:0008222	Female infertility	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0000789	HP:0003251	Male infertility	1	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0000789	HP:0003251	Male infertility	1	SLC26A8 CL E G H	116369	14468	OMIM:606766	Spermatogenic failure 3		3
HP:0000789	HP:0003251	Male infertility	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000789	HP:0003251	Male infertility	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	45
HP:0000789	HP:0008222	Female infertility	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	45
HP:0000789	HP:0003251	Male infertility	1	SPAG17 CL E G H	200162	26620	OMIM:619380	SPERMATOGENIC FAILURE 55; SPGF55		2
HP:0000789	HP:0003251	Male infertility	1	SPATA16 CL E G H	83893	29935	OMIM:102530	SPERMATOGENIC FAILURE 6; SPGF6		31
HP:0000789	HP:0008222	Female infertility	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	15
HP:0000789	HP:0003251	Male infertility	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	15
HP:0000789	HP:0003251	Male infertility	1	SPEF2 CL E G H	79925	26293	OMIM:618751	SPERMATOGENIC FAILURE 43; SPGF43		15
HP:0000789	HP:0003251	Male infertility	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0000789	HP:0003251	Male infertility	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000789	HP:0003251	Male infertility	1	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0000789	HP:0008222	Female infertility	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	3
HP:0000789	HP:0003251	Male infertility	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	3
HP:0000789	HP:0003251	Male infertility	1	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility	.	78
HP:0000789	HP:0003251	Male infertility	1	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent	78
HP:0000789	HP:0003251	Male infertility	1	STRC CL E G H	161497	16035	OMIM:612997	Spermatogenic failure 7	.	78
HP:0000789	HP:0003251	Male infertility	1	SUN5 CL E G H	140732	16252	ORPHA:529970	Male infertility due to acephalic spermatozoa	HP:0040281 - Very frequent	6
HP:0000789	HP:0003251	Male infertility	1	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0000789	HP:0003251	Male infertility	1	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0000789	HP:0003251	Male infertility	1	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4		12
HP:0000789	HP:0003251	Male infertility	1	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0000789	HP:0003251	Male infertility	1	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0000789	HP:0003251	Male infertility	1	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2	.	5
HP:0000789	HP:0003251	Male infertility	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13
HP:0000789	HP:0008222	Female infertility	1	TLE6 CL E G H	79816	30788	OMIM:616814	Preimplantation embryonic lethality 1		1
HP:0000789	HP:0008222	Female infertility	1	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9		2
HP:0000789	HP:0003251	Male infertility	1	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000789	HP:0003251	Male infertility	1	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0000789	HP:0003251	Male infertility	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0000789	HP:0008222	Female infertility	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0000789	HP:0003251	Male infertility	1	TTC21A CL E G H	199223	30761	OMIM:618429	Spermatogenic failure 37
HP:0000789	HP:0003251	Male infertility	1	TTC29 CL E G H	83894	29936	OMIM:618745	SPERMATOGENIC FAILURE 42; SPGF42
HP:0000789	HP:0008222	Female infertility	1	TUBB8 CL E G H	347688	20773	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate	10
HP:0000789	HP:0008222	Female infertility	1	TUBB8 CL E G H	347688	20773	OMIM:616780	Oocyte maturation defect 2		10
HP:0000789	HP:0003251	Male infertility	1	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent	2
HP:0000789	HP:0003251	Male infertility	1	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0000789	HP:0003251	Male infertility	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000789	HP:0003251	Male infertility	1	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0000789	HP:0003251	Male infertility	1	WDR19 CL E G H	57728	18340	OMIM:619867			95
HP:0000789	HP:0008222	Female infertility	1	WEE2 CL E G H	494551	19684	ORPHA:488191	Female infertility due to oocyte meiotic arrest	HP:0040280 - Obligate
HP:0000789	HP:0003251	Male infertility	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000789	HP:0003251	Male infertility	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0000789	HP:0003251	Male infertility	1	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0000789	HP:0003251	Male infertility	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0000789	HP:0003251	Male infertility	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0000789	HP:0008222	Female infertility	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0000789	HP:0003251	Male infertility	1	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0000789	HP:0008222	Female infertility	1	ZP1 CL E G H	22917	13187	OMIM:615774	Oocyte maturation defect		1
HP:0000789	HP:0008222	Female infertility	1	ZP2 CL E G H	7783	13188	OMIM:618353	OOCYTE MATURATION DEFECT 6; OOMD6
HP:0000789	HP:0008222	Female infertility	1	ZP3 CL E G H	7784	13189	OMIM:617712	Oocyte maturation defect 3
HP:0000789	HP:0003251	Male infertility	1	ZPBP CL E G H	11055	15662	OMIM:619799	SPERMATOGENIC FAILURE 66; SPGF66
HP:0000789	HP:0003251	Male infertility	1	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71

Genes (242) :ACTL9 ADGRG2 AK7 AMH AMHR2 AR ARMC2 ASTL AURKC AXL BLM BMP6 BPY2 BRAF BRDT BTG4 C11ORF80 C14ORF39 C2CD6 CATIP CATSPER1 CATSPER2 CCDC103 CCDC141 CCDC34 CCDC39 CCDC40 CCDC62 CCDC65 CCNO CDC14A CDH23 CDY1 CDY2A CEP112 CEP19 CFAP221 CFAP251 CFAP298 CFAP300 CFAP43 CFAP44 CFAP47 CFAP52 CFAP58 CFAP65 CFAP70 CFTR CLDN2 CTNS CYP17A1 CYP19A1 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y DHH DHX37 DMRT3 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNHD1 DPY19L2 DRC1 DUSP6 DZIP1 FANCA FBXO43 FCGR2A FEZF1 FGF17 FIGLA FKBP6 FOXA2 FOXJ1 FOXL2 FSHB FSIP2 GALT GAS2L2 GAS8 GATA4 GBA2 GCM2 GCNA GGN GGPS1 GLI2 GNRH1 GNRHR H6PD HERC2 HESX1 HFE HJV HLA-DQA1 HLA-DQB1 HSD17B3 HSF2BP HSFY1 HYDIN IFT74 IPW KDM5D KLHL10 LHCGR LHX4 LRRC56 M1AP MAGEL2 MAP2K1 MAP3K1 MCIDAS MEI1 MEIOB MKRN3 MKRN3-AS1 MNS1 MOV10L1 MSH4 MSH5 NANOS1 NDN NEK10 NME8 NPAP1 NR0B1 NR3C1 NR5A1 OCA2 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTX2 PADI6 PANX1 PATL2 PDHA2 PGR PLCZ1 PLIN1 PMFBP1 PNLDC1 POF1B POU1F1 PPP2R3C PRLR PROP1 PRY PRY2 PSMC3IP PTPN11 PWAR1 PWRN1 QRICH2 RBMY1A1 REC114 RNF212 RNF216 RPGR RPL10L RPS4Y2 RSPH1 RSPH3 RSPH4A RSPH9 SEMA3E SEPTIN12 SHOC1 SIM1 SLC26A8 SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOX3 SOX9 SPAG1 SPAG17 SPATA16 SPEF2 SPRY4 SRA1 SRY STAG3 STK36 STRC STUB1 SUN5 SYCE1 SYCP2 SYCP3 TERB1 TERB2 TEX11 TEX14 TGFB1 TLE6 TRIP13 TSGA10 TSPY1 TTC12 TTC21A TTC29 TUBB8 USP9Y VAMP7 VCY WDR11 WDR19 WEE2 WT1 WWOX XRCC2 ZFPM2 ZMYND10 ZMYND15 ZP1 ZP2 ZP3 ZPBP ZSWIM7

Diseases (177) :OMIM:619258 ORPHA:48 OMIM:300985 OMIM:617965 OMIM:261550 ORPHA:99429 ORPHA:90797 OMIM:312300 OMIM:618433 OMIM:619643 OMIM:243060 OMIM:146110 ORPHA:125 ORPHA:465508 OMIM:415000 OMIM:163950 OMIM:617644 OMIM:619009 OMIM:618432 OMIM:619202 OMIM:619805 OMIM:619379 OMIM:612997 OMIM:611102 ORPHA:94064 ORPHA:244 OMIM:620084 OMIM:613807 OMIM:613808 OMIM:619803 OMIM:615872 OMIM:608653 ORPHA:91347 OMIM:619044 OMIM:615703 OMIM:618152 OMIM:615500 OMIM:618063 OMIM:617592 OMIM:617593 OMIM:301059 OMIM:619607 OMIM:619144 OMIM:618664 OMIM:618670 OMIM:219700 OMIM:277180 OMIM:301060 OMIM:219800 ORPHA:90793 ORPHA:91 ORPHA:1646 ORPHA:168563 ORPHA:251510 OMIM:613193 OMIM:614935 OMIM:606763 OMIM:615482 OMIM:614874 OMIM:300991 OMIM:617577 OMIM:617576 OMIM:619515 OMIM:618643 OMIM:619094 OMIM:619095 OMIM:618300 OMIM:244400 OMIM:612444 OMIM:617091 OMIM:619712 OMIM:613958 OMIM:619102 OMIM:227650 OMIM:619697 OMIM:619696 OMIM:612310 OMIM:620103 ORPHA:95494 OMIM:110100 ORPHA:572333 OMIM:229070 OMIM:618153 ORPHA:79239 OMIM:618449 ORPHA:320391 OMIM:614409 ORPHA:2239 OMIM:301077 OMIM:619826 OMIM:619518 OMIM:604931 OMIM:176270 OMIM:602390 OMIM:212750 ORPHA:752 OMIM:264300 OMIM:619245 OMIM:619585 OMIM:615081 ORPHA:3000 OMIM:619108 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:618431 OMIM:617706 OMIM:618948 OMIM:619878 OMIM:619938 OMIM:108420 OMIM:619937 OMIM:617442 OMIM:615413 ORPHA:786 OMIM:615962 OMIM:617234 ORPHA:488191 OMIM:618550 OMIM:617743 OMIM:619828 OMIM:264080 OMIM:617214 ORPHA:280356 ORPHA:529970 OMIM:618112 OMIM:619528 OMIM:300604 OMIM:618420 ORPHA:397685 OMIM:615555 ORPHA:90695 OMIM:614324 OMIM:618341 OMIM:619176 OMIM:619673 OMIM:212840 OMIM:619689 OMIM:615481 OMIM:616481 OMIM:614822 OMIM:619949 ORPHA:398079 OMIM:606766 OMIM:618115 OMIM:619380 OMIM:102530 OMIM:618751 ORPHA:1772 OMIM:619672 ORPHA:412057 OMIM:617187 OMIM:616950 OMIM:258150 OMIM:270960 OMIM:619646 OMIM:619645 OMIM:309120 OMIM:617707 OMIM:616814 OMIM:619011 OMIM:617961 OMIM:618801 OMIM:618429 OMIM:618745 OMIM:616780 OMIM:619867 OMIM:617996 OMIM:619145 OMIM:615444 OMIM:615842 OMIM:615774 OMIM:618353 OMIM:617712 OMIM:619799 OMIM:619831

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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