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 male reproductive system physiology (HP:0012874)

Parent Node:
Functional abnormality of male internal genitalia (HP:0000025)

..Starting node
..Abnormal spermatogenesis (HP:0008669)

Term ID:

8669

Name:

Abnormal spermatogenesis

Synonym:

Abnormal sperm development; Impaired spermatogenesis

Definition:

Incomplete maturation or aberrant formation of the male gametes.

Comments:

Reference:

HP:0008669

Genes and Diseases:

Child Nodes:

........

Azoospermia (HP:0000027)

................... HP:0011961 Non-obstructive azoospermia
................... HP:0011962 Obstructive azoospermia
................... HP:0011963 Pretesticular azoospermia

........

Oligospermia (HP:0000798)

................... HP:0030974 Cryptozoospermia

........

Spermatogenesis maturation arrest (HP:0031038)

................... HP:0031039 Early spermatogenesis maturation arrest
................... HP:0031040 Late spermatogenesis maturation arrest

Sister Nodes:

Abnormal sperm motility (HP:0012206)

Male hypogonadism (HP:0000026)

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:0008669	HP:0008669	Abnormal spermatogenesis	0	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens		5
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked		5
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic		18
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1		13
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CATSPER1 CL E G H	117144	17116	OMIM:612997	Spermatogenic failure 7		45
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility	.	12
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome		12
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CATSPER2 CL E G H	117155	18810	OMIM:612997	Spermatogenic failure 7		12
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CFAP65 CL E G H	255101	25325	OMIM:618664	SPERMATOGENIC FAILURE 40; SPGF40		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CFAP70 CL E G H	118491	30726	OMIM:618670	SPERMATOGENIC FAILURE 41; SPGF41
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CFAP91 CL E G H	89876	24010	OMIM:619177	SPERMATOGENIC FAILURE 51; SPGF51
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens		1371
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1371
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CFTR CL E G H	1080	1884	OMIM:277180	Vas deferens, congenital bilateral aplasia of		1371
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DNAH10 CL E G H	196385	2941	OMIM:619515	SPERMATOGENIC FAILURE 56; SPGF56		18
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	DZIP1 CL E G H	22873	20908	OMIM:619102	SPERMATOGENIC FAILURE 47; SPGF47
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	107
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FBXO43 CL E G H	286151	28521	OMIM:619696	SPERMATOGENIC FAILURE 64; SPGF64
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic		145
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1		38
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58		3
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic		327
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	KLHL10 CL E G H	317719	18829	OMIM:615081	SPERMATOGENIC FAILURE 11; SPGF11		3
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty		67
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NANOS1 CL E G H	340719	23044	OMIM:615413	SPERMATOGENIC FAILURE 12; SPGF12		4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome		79
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	38
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NR5A1 CL E G H	2516	7983	OMIM:613957	Spermatogenic failure 8		38
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PMFBP1 CL E G H	83449	17728	ORPHA:529970	Male infertility due to acephalic spermatozoa
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		5
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy		4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SOHLH1 CL E G H	402381	27845	OMIM:618115	Spermatogenic failure 32		3
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SPINK2 CL E G H	6691	11245	OMIM:618091	Spermatogenic failure 29
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1		23
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic		740
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility	.	78
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome		78
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	STRC CL E G H	161497	16035	OMIM:612997	Spermatogenic failure 7		78
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SUN5 CL E G H	140732	16252	ORPHA:529970	Male infertility due to acephalic spermatozoa		6
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	12
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4		12
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TAF4B CL E G H	6875	11538	OMIM:615841	Spermatogenic failure 13		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TDRD9 CL E G H	122402	20122	OMIM:618110	Spermatogenic failure 30
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	5
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2		5
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TEX14 CL E G H	56155	11737	OMIM:617707	Spermatogenic failure 23		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent	2
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	125
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0008669	HP:0008669	Abnormal spermatogenesis	0	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71
HP:0008669	HP:0000027	Azoospermia	1	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens		5
HP:0008669	HP:0000798	Oligospermia	1	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040283 - Occasional	5
HP:0008669	HP:0000027	Azoospermia	1	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked	.	5
HP:0008669	HP:0000798	Oligospermia	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0008669	HP:0000027	Azoospermia	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent	150
HP:0008669	HP:0000027	Azoospermia	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0008669	HP:0000798	Oligospermia	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0008669	HP:0000027	Azoospermia	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0008669	HP:0000027	Azoospermia	1	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome	.	125
HP:0008669	HP:0000798	Oligospermia	1	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0008669	HP:0000027	Azoospermia	1	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.	18
HP:0008669	HP:0000027	Azoospermia	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0008669	HP:0000798	Oligospermia	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0008669	HP:0000027	Azoospermia	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0008669	HP:0000027	Azoospermia	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0008669	HP:0000027	Azoospermia	1	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000027	Azoospermia	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0008669	HP:0000027	Azoospermia	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0008669	HP:0000027	Azoospermia	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent	8
HP:0008669	HP:0000027	Azoospermia	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0008669	HP:0000027	Azoospermia	1	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0000027	Azoospermia	1	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0008669	HP:0000798	Oligospermia	1	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0008669	HP:0000798	Oligospermia	1	CATSPER1 CL E G H	117144	17116	OMIM:612997	Spermatogenic failure 7	.	45
HP:0008669	HP:0000027	Azoospermia	1	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent	12
HP:0008669	HP:0000798	Oligospermia	1	CATSPER2 CL E G H	117155	18810	OMIM:612997	Spermatogenic failure 7	.	12
HP:0008669	HP:0000798	Oligospermia	1	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0008669	HP:0000027	Azoospermia	1	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0000027	Azoospermia	1	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000027	Azoospermia	1	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000027	Azoospermia	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure	.	1
HP:0008669	HP:0000798	Oligospermia	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0008669	HP:0000798	Oligospermia	1	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3		1
HP:0008669	HP:0000798	Oligospermia	1	CFAP65 CL E G H	255101	25325	OMIM:618664	SPERMATOGENIC FAILURE 40; SPGF40		1
HP:0008669	HP:0000798	Oligospermia	1	CFAP70 CL E G H	118491	30726	OMIM:618670	SPERMATOGENIC FAILURE 41; SPGF41
HP:0008669	HP:0000798	Oligospermia	1	CFAP91 CL E G H	89876	24010	OMIM:619177	SPERMATOGENIC FAILURE 51; SPGF51
HP:0008669	HP:0000798	Oligospermia	1	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040283 - Occasional	1371
HP:0008669	HP:0000027	Azoospermia	1	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens		1371
HP:0008669	HP:0000027	Azoospermia	1	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1371
HP:0008669	HP:0000027	Azoospermia	1	CFTR CL E G H	1080	1884	OMIM:277180	Vas deferens, congenital bilateral aplasia of	.	1371
HP:0008669	HP:0000027	Azoospermia	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0008669	HP:0000027	Azoospermia	1	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0008669	HP:0000798	Oligospermia	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0008669	HP:0000027	Azoospermia	1	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion
HP:0008669	HP:0000798	Oligospermia	1	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion	HP:0040282 - Frequent
HP:0008669	HP:0000027	Azoospermia	1	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000798	Oligospermia	1	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion	HP:0040282 - Frequent
HP:0008669	HP:0000027	Azoospermia	1	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion
HP:0008669	HP:0000027	Azoospermia	1	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000798	Oligospermia	1	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion	HP:0040282 - Frequent
HP:0008669	HP:0000027	Azoospermia	1	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion
HP:0008669	HP:0000027	Azoospermia	1	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000027	Azoospermia	1	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion
HP:0008669	HP:0000798	Oligospermia	1	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion	HP:0040282 - Frequent
HP:0008669	HP:0000798	Oligospermia	1	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion	HP:0040282 - Frequent
HP:0008669	HP:0000027	Azoospermia	1	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion
HP:0008669	HP:0000027	Azoospermia	1	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000027	Azoospermia	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008669	HP:0000027	Azoospermia	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0008669	HP:0000798	Oligospermia	1	DNAH10 CL E G H	196385	2941	OMIM:619515	SPERMATOGENIC FAILURE 56; SPGF56		18
HP:0008669	HP:0000798	Oligospermia	1	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0008669	HP:0000027	Azoospermia	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	.	18
HP:0008669	HP:0000798	Oligospermia	1	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0008669	HP:0000027	Azoospermia	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0008669	HP:0000798	Oligospermia	1	DZIP1 CL E G H	22873	20908	OMIM:619102	SPERMATOGENIC FAILURE 47; SPGF47
HP:0008669	HP:0000027	Azoospermia	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0008669	HP:0000027	Azoospermia	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0008669	HP:0000027	Azoospermia	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0008669	HP:0000027	Azoospermia	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0008669	HP:0000027	Azoospermia	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0008669	HP:0000027	Azoospermia	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0008669	HP:0000027	Azoospermia	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0008669	HP:0000027	Azoospermia	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0008669	HP:0000027	Azoospermia	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0008669	HP:0000027	Azoospermia	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0008669	HP:0000027	Azoospermia	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0008669	HP:0000027	Azoospermia	1	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	107
HP:0008669	HP:0000027	Azoospermia	1	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0008669	HP:0000798	Oligospermia	1	FBXO43 CL E G H	286151	28521	OMIM:619696	SPERMATOGENIC FAILURE 64; SPGF64
HP:0008669	HP:0000027	Azoospermia	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0008669	HP:0000027	Azoospermia	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0008669	HP:0000027	Azoospermia	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0008669	HP:0000027	Azoospermia	1	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.	145
HP:0008669	HP:0000027	Azoospermia	1	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0008669	HP:0000798	Oligospermia	1	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0008669	HP:0000027	Azoospermia	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia	.	23
HP:0008669	HP:0000798	Oligospermia	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040282 - Frequent	23
HP:0008669	HP:0000027	Azoospermia	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040282 - Frequent	23
HP:0008669	HP:0000027	Azoospermia	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0008669	HP:0000027	Azoospermia	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0008669	HP:0000027	Azoospermia	1	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0008669	HP:0000027	Azoospermia	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0008669	HP:0000027	Azoospermia	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0008669	HP:0000027	Azoospermia	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0008669	HP:0000027	Azoospermia	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A	.
HP:0008669	HP:0000027	Azoospermia	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0008669	HP:0000027	Azoospermia	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0008669	HP:0000027	Azoospermia	1	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	1
HP:0008669	HP:0000798	Oligospermia	1	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58		3
HP:0008669	HP:0000027	Azoospermia	1	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000027	Azoospermia	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0008669	HP:0000027	Azoospermia	1	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0008669	HP:0000027	Azoospermia	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0008669	HP:0000027	Azoospermia	1	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.	327
HP:0008669	HP:0000027	Azoospermia	1	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0008669	HP:0000798	Oligospermia	1	KLHL10 CL E G H	317719	18829	OMIM:615081	SPERMATOGENIC FAILURE 11; SPGF11		3
HP:0008669	HP:0000027	Azoospermia	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0008669	HP:0000798	Oligospermia	1	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040283 - Occasional	67
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0008669	HP:0000027	Azoospermia	1	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0008669	HP:0000798	Oligospermia	1	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0008669	HP:0000027	Azoospermia	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0008669	HP:0000027	Azoospermia	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0008669	HP:0000027	Azoospermia	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	94
HP:0008669	HP:0000027	Azoospermia	1	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10	.	4
HP:0008669	HP:0000027	Azoospermia	1	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0000798	Oligospermia	1	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0008669	HP:0000027	Azoospermia	1	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22	.
HP:0008669	HP:0000027	Azoospermia	1	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0008669	HP:0000027	Azoospermia	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	26
HP:0008669	HP:0000027	Azoospermia	1	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2	.
HP:0008669	HP:0000798	Oligospermia	1	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2	.
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0008669	HP:0000027	Azoospermia	1	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0008669	HP:0000027	Azoospermia	1	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008669	HP:0000027	Azoospermia	1	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation		4
HP:0008669	HP:0000027	Azoospermia	1	NANOS1 CL E G H	340719	23044	OMIM:615413	SPERMATOGENIC FAILURE 12; SPGF12		4
HP:0008669	HP:0000027	Azoospermia	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	13
HP:0008669	HP:0000027	Azoospermia	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0008669	HP:0000798	Oligospermia	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0008669	HP:0000027	Azoospermia	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0008669	HP:0000798	Oligospermia	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040283 - Occasional	79
HP:0008669	HP:0000027	Azoospermia	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0008669	HP:0000027	Azoospermia	1	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	38
HP:0008669	HP:0000027	Azoospermia	1	NR5A1 CL E G H	2516	7983	OMIM:613957	Spermatogenic failure 8	.	38
HP:0008669	HP:0000798	Oligospermia	1	NR5A1 CL E G H	2516	7983	OMIM:613957	Spermatogenic failure 8	.	38
HP:0008669	HP:0000027	Azoospermia	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0008669	HP:0000027	Azoospermia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0008669	HP:0000027	Azoospermia	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0008669	HP:0000798	Oligospermia	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0008669	HP:0000027	Azoospermia	1	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0008669	HP:0000798	Oligospermia	1	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0008669	HP:0000798	Oligospermia	1	PMFBP1 CL E G H	83449	17728	ORPHA:529970	Male infertility due to acephalic spermatozoa	HP:0040282 - Frequent
HP:0008669	HP:0000027	Azoospermia	1	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0008669	HP:0000027	Azoospermia	1	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0008669	HP:0000798	Oligospermia	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0008669	HP:0000798	Oligospermia	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0008669	HP:0000798	Oligospermia	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0008669	HP:0000027	Azoospermia	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0008669	HP:0000027	Azoospermia	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0008669	HP:0000027	Azoospermia	1	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000027	Azoospermia	1	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	5
HP:0008669	HP:0000027	Azoospermia	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0008669	HP:0000027	Azoospermia	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0008669	HP:0000798	Oligospermia	1	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion	HP:0040282 - Frequent
HP:0008669	HP:0000027	Azoospermia	1	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion
HP:0008669	HP:0000027	Azoospermia	1	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000027	Azoospermia	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0008669	HP:0000027	Azoospermia	1	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0008669	HP:0000798	Oligospermia	1	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0008669	HP:0000027	Azoospermia	1	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0008669	HP:0000027	Azoospermia	1	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy	.	4
HP:0008669	HP:0000027	Azoospermia	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	.	14
HP:0008669	HP:0000027	Azoospermia	1	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0008669	HP:0000027	Azoospermia	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0008669	HP:0000027	Azoospermia	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0008669	HP:0000027	Azoospermia	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0008669	HP:0000027	Azoospermia	1	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0008669	HP:0000027	Azoospermia	1	SOHLH1 CL E G H	402381	27845	OMIM:618115	Spermatogenic failure 32	.	3
HP:0008669	HP:0000027	Azoospermia	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0008669	HP:0000027	Azoospermia	1	SPINK2 CL E G H	6691	11245	OMIM:618091	Spermatogenic failure 29	.
HP:0008669	HP:0000027	Azoospermia	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0008669	HP:0000027	Azoospermia	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0008669	HP:0000027	Azoospermia	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0008669	HP:0000027	Azoospermia	1	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0008669	HP:0000027	Azoospermia	1	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0008669	HP:0000027	Azoospermia	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	45
HP:0008669	HP:0000027	Azoospermia	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.	1
HP:0008669	HP:0000027	Azoospermia	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent	1
HP:0008669	HP:0000027	Azoospermia	1	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.	740
HP:0008669	HP:0000027	Azoospermia	1	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent	78
HP:0008669	HP:0000798	Oligospermia	1	STRC CL E G H	161497	16035	OMIM:612997	Spermatogenic failure 7	.	78
HP:0008669	HP:0000798	Oligospermia	1	SUN5 CL E G H	140732	16252	ORPHA:529970	Male infertility due to acephalic spermatozoa	HP:0040282 - Frequent	6
HP:0008669	HP:0000027	Azoospermia	1	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0008669	HP:0000027	Azoospermia	1	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0008669	HP:0000798	Oligospermia	1	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0008669	HP:0000027	Azoospermia	1	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	12
HP:0008669	HP:0000027	Azoospermia	1	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4	.	12
HP:0008669	HP:0000027	Azoospermia	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0008669	HP:0000027	Azoospermia	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0008669	HP:0000027	Azoospermia	1	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0000027	Azoospermia	1	TAF4B CL E G H	6875	11538	OMIM:615841	Spermatogenic failure 13	.	1
HP:0008669	HP:0000027	Azoospermia	1	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0000798	Oligospermia	1	TDRD9 CL E G H	122402	20122	OMIM:618110	Spermatogenic failure 30
HP:0008669	HP:0000027	Azoospermia	1	TDRD9 CL E G H	122402	20122	OMIM:618110	Spermatogenic failure 30	.
HP:0008669	HP:0000027	Azoospermia	1	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0008669	HP:0000027	Azoospermia	1	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0008669	HP:0000027	Azoospermia	1	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	5
HP:0008669	HP:0000027	Azoospermia	1	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2	.	5
HP:0008669	HP:0000027	Azoospermia	1	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0000027	Azoospermia	1	TEX14 CL E G H	56155	11737	OMIM:617707	Spermatogenic failure 23	.	1
HP:0008669	HP:0000027	Azoospermia	1	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0000798	Oligospermia	1	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25		1
HP:0008669	HP:0000027	Azoospermia	1	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25	.	1
HP:0008669	HP:0000027	Azoospermia	1	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion
HP:0008669	HP:0000798	Oligospermia	1	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion	HP:0040282 - Frequent
HP:0008669	HP:0000027	Azoospermia	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	85
HP:0008669	HP:0000027	Azoospermia	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0008669	HP:0000027	Azoospermia	1	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion		2
HP:0008669	HP:0000798	Oligospermia	1	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion	HP:0040282 - Frequent	2
HP:0008669	HP:0000027	Azoospermia	1	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	2
HP:0008669	HP:0000027	Azoospermia	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008669	HP:0000027	Azoospermia	1	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	2
HP:0008669	HP:0000027	Azoospermia	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0008669	HP:0000027	Azoospermia	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0008669	HP:0000027	Azoospermia	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0008669	HP:0000027	Azoospermia	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0008669	HP:0000027	Azoospermia	1	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	125
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0008669	HP:0000027	Azoospermia	1	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0008669	HP:0000027	Azoospermia	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0008669	HP:0000027	Azoospermia	1	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0031038	Spermatogenesis maturation arrest	1	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0008669	HP:0000027	Azoospermia	1	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14	.	1
HP:0008669	HP:0000027	Azoospermia	1	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71
HP:0008669	HP:0011963	Pretesticular azoospermia	2	CL E G H
HP:0008669	HP:0011962	Obstructive azoospermia	2	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	5
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0011962	Obstructive azoospermia	2	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0008669	HP:0030974	Cryptozoospermia	2	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0008669	HP:0011962	Obstructive azoospermia	2	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0011962	Obstructive azoospermia	2	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	1371
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1371
HP:0008669	HP:0011962	Obstructive azoospermia	2	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	1371
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0008669	HP:0011962	Obstructive azoospermia	2	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0008669	HP:0011962	Obstructive azoospermia	2	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	107
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	107
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0008669	HP:0011962	Obstructive azoospermia	2	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	3
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0008669	HP:0011962	Obstructive azoospermia	2	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0030974	Cryptozoospermia	2	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0008669	HP:0011962	Obstructive azoospermia	2	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	4
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008669	HP:0011962	Obstructive azoospermia	2	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	38
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	38
HP:0008669	HP:0030974	Cryptozoospermia	2	NR5A1 CL E G H	2516	7983	OMIM:613957	Spermatogenic failure 8	.	38
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0011962	Obstructive azoospermia	2	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0008669	HP:0031039	Early spermatogenesis maturation arrest	2	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0008669	HP:0031039	Early spermatogenesis maturation arrest	2	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0008669	HP:0011962	Obstructive azoospermia	2	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	3
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0008669	HP:0031039	Early spermatogenesis maturation arrest	2	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0008669	HP:0011962	Obstructive azoospermia	2	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	4
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0008669	HP:0030974	Cryptozoospermia	2	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	12
HP:0008669	HP:0011962	Obstructive azoospermia	2	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	12
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0008669	HP:0011962	Obstructive azoospermia	2	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	1
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008669	HP:0011962	Obstructive azoospermia	2	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0008669	HP:0030974	Cryptozoospermia	2	TDRD9 CL E G H	122402	20122	OMIM:618110	Spermatogenic failure 30	.
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	5
HP:0008669	HP:0011962	Obstructive azoospermia	2	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	5
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0011962	Obstructive azoospermia	2	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	1
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0011962	Obstructive azoospermia	2	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	1
HP:0008669	HP:0030974	Cryptozoospermia	2	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25	.	1
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent	2
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	125
HP:0008669	HP:0011962	Obstructive azoospermia	2	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	125
HP:0008669	HP:0011962	Obstructive azoospermia	2	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	1
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008669	HP:0031040	Late spermatogenesis maturation arrest	2	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0008669	HP:0011961	Non-obstructive azoospermia	2	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71

Genes (159) :ADGRG2 ALMS1 ANK1 ANOS1 ANTXR1 AR ARMC2 ATM BCL10 BLM BMP2 BPY2 BRCA1 BRCA2 BRCC3 BRIP1 C14ORF39 CATIP CATSPER1 CATSPER2 CCDC34 CDY1 CDY2A CEP19 CFAP47 CFAP65 CFAP70 CFAP91 CFTR CHD7 CLDN2 CNBP DAZ1 DAZ2 DAZ3 DAZ4 DCAF17 DDX3Y DHX37 DMRT3 DNAH10 DNAH17 DNAH9 DNHD1 DUSP6 DZIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXO43 FGF17 FGF8 FGFR1 FGFR3 FKBP6 FSHB GATA4 GBA1 GCNA GNRH1 GNRHR HFE HJV HS6ST1 HSD3B2 HSFY1 IFT74 KDM5D KISS1 KISS1R KIT KLHL10 LHB LHCGR M1AP MAD2L2 MAP3K1 MC2R MCM8 MEIOB MOV10L1 MRAP MSH4 MSH5 NANOS1 NNT NR0B1 NR3C1 NR5A1 NSMF OCRL PALB2 PDE11A PDHA2 PMFBP1 PNLDC1 POC1A POR PRKAR1A PROK2 PROKR2 PRY PRY2 RAD51 RAD51C RBMY1A1 RFWD3 RNF212 RPL10L RPS4Y2 SCP2 SEMA3A SHOC1 SLC29A3 SLX4 SOHLH1 SOX9 SPINK2 SPRY4 SRY STAG3 STAR STEAP3 STK11 STRC SUN5 SYCE1 SYCP2 SYCP3 TAC3 TACR3 TAF4B TDRD9 TERB1 TERB2 TEX11 TEX14 TEX15 TSPY1 TXNRD2 UBE2T USP9Y VAMP7 VCY WDR11 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZSWIM7

Diseases (101) :ORPHA:48 OMIM:300985 ORPHA:64 ORPHA:251066 OMIM:308700 ORPHA:2067 ORPHA:90797 OMIM:312300 OMIM:618433 OMIM:208900 OMIM:273300 ORPHA:125 OMIM:210900 OMIM:235200 OMIM:415000 ORPHA:84 ORPHA:280679 ORPHA:399805 OMIM:619202 OMIM:619379 OMIM:612997 OMIM:611102 ORPHA:94064 OMIM:620084 OMIM:615703 OMIM:301059 OMIM:618664 OMIM:618670 OMIM:619177 OMIM:277180 ORPHA:432 OMIM:301060 OMIM:602668 ORPHA:1646 ORPHA:3464 ORPHA:251510 OMIM:619515 OMIM:618643 OMIM:618300 OMIM:619712 OMIM:619102 OMIM:618086 OMIM:619696 OMIM:620103 OMIM:229070 ORPHA:52901 ORPHA:2072 OMIM:301077 OMIM:602390 ORPHA:90791 OMIM:619585 OMIM:614837 OMIM:615081 OMIM:228300 ORPHA:3000 OMIM:619108 ORPHA:361 OMIM:612885 OMIM:617706 OMIM:619878 OMIM:108420 OMIM:619937 ORPHA:399808 OMIM:615413 OMIM:300200 ORPHA:786 OMIM:613957 ORPHA:534 ORPHA:1359 OMIM:619828 ORPHA:529970 OMIM:619528 OMIM:614813 ORPHA:95699 OMIM:619673 OMIM:619689 OMIM:613724 OMIM:614897 OMIM:619949 ORPHA:168569 OMIM:602782 OMIM:618115 OMIM:618091 ORPHA:1772 OMIM:400045 OMIM:619672 OMIM:615234 ORPHA:300298 OMIM:616950 OMIM:258150 OMIM:270960 OMIM:615841 OMIM:618110 OMIM:619646 OMIM:619645 OMIM:309120 OMIM:617707 OMIM:617960 OMIM:619145 OMIM:615842 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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