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

Parent Node:
Abnormal spermatogenesis (HP:0008669)

..Starting node
..Azoospermia (HP:0000027)

Term ID:

Name:

Azoospermia

Synonym:

Absent sperm in semen

Definition:

Absence of any measurable level of sperm in his semen.

Comments:

Reference:

HP:0000027

Genes and Diseases:

Child Nodes:

........

Non-obstructive azoospermia (HP:0011961)

........

Obstructive azoospermia (HP:0011962)

........

Pretesticular azoospermia (HP:0011963)

Sister Nodes:

Oligospermia (HP:0000798)

Spermatogenesis maturation arrest (HP:0031038)

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:0000027	HP:0000027	Azoospermia	0	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens		5
HP:0000027	HP:0000027	Azoospermia	0	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked	.	5
HP:0000027	HP:0000027	Azoospermia	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent	150
HP:0000027	HP:0000027	Azoospermia	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0000027	HP:0000027	Azoospermia	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0000027	HP:0000027	Azoospermia	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome	.	125
HP:0000027	HP:0000027	Azoospermia	0	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.	18
HP:0000027	HP:0000027	Azoospermia	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0000027	HP:0000027	Azoospermia	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0000027	HP:0000027	Azoospermia	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0000027	HP:0000027	Azoospermia	0	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000027	HP:0000027	Azoospermia	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000027	HP:0000027	Azoospermia	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent	8
HP:0000027	HP:0000027	Azoospermia	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0000027	HP:0000027	Azoospermia	0	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent	12
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure	.	1
HP:0000027	HP:0000027	Azoospermia	0	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens		1371
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	CFTR CL E G H	1080	1884	OMIM:277180	Vas deferens, congenital bilateral aplasia of	.	1371
HP:0000027	HP:0000027	Azoospermia	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0000027	HP:0000027	Azoospermia	0	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0000027	HP:0000027	Azoospermia	0	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion
HP:0000027	HP:0000027	Azoospermia	0	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion
HP:0000027	HP:0000027	Azoospermia	0	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion
HP:0000027	HP:0000027	Azoospermia	0	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion
HP:0000027	HP:0000027	Azoospermia	0	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion
HP:0000027	HP:0000027	Azoospermia	0	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000027	HP:0000027	Azoospermia	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0000027	HP:0000027	Azoospermia	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	.	18
HP:0000027	HP:0000027	Azoospermia	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0000027	HP:0000027	Azoospermia	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000027	HP:0000027	Azoospermia	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000027	HP:0000027	Azoospermia	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000027	HP:0000027	Azoospermia	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000027	HP:0000027	Azoospermia	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000027	HP:0000027	Azoospermia	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000027	HP:0000027	Azoospermia	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000027	HP:0000027	Azoospermia	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000027	HP:0000027	Azoospermia	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000027	HP:0000027	Azoospermia	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000027	HP:0000027	Azoospermia	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0000027	HP:0000027	Azoospermia	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0000027	HP:0000027	Azoospermia	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0000027	HP:0000027	Azoospermia	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0000027	HP:0000027	Azoospermia	0	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.	145
HP:0000027	HP:0000027	Azoospermia	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0000027	HP:0000027	Azoospermia	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia	.	23
HP:0000027	HP:0000027	Azoospermia	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040282 - Frequent	23
HP:0000027	HP:0000027	Azoospermia	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0000027	HP:0000027	Azoospermia	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0000027	HP:0000027	Azoospermia	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0000027	HP:0000027	Azoospermia	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0000027	HP:0000027	Azoospermia	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0000027	HP:0000027	Azoospermia	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0000027	HP:0000027	Azoospermia	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A	.
HP:0000027	HP:0000027	Azoospermia	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0000027	HP:0000027	Azoospermia	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0000027	HP:0000027	Azoospermia	0	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	1
HP:0000027	HP:0000027	Azoospermia	0	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0000027	HP:0000027	Azoospermia	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0000027	HP:0000027	Azoospermia	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0000027	HP:0000027	Azoospermia	0	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.	327
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0000027	HP:0000027	Azoospermia	0	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0000027	HP:0000027	Azoospermia	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000027	HP:0000027	Azoospermia	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000027	HP:0000027	Azoospermia	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	94
HP:0000027	HP:0000027	Azoospermia	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10	.	4
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22	.
HP:0000027	HP:0000027	Azoospermia	0	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0000027	HP:0000027	Azoospermia	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	26
HP:0000027	HP:0000027	Azoospermia	0	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2	.
HP:0000027	HP:0000027	Azoospermia	0	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation		4
HP:0000027	HP:0000027	Azoospermia	0	NANOS1 CL E G H	340719	23044	OMIM:615413	SPERMATOGENIC FAILURE 12; SPGF12		4
HP:0000027	HP:0000027	Azoospermia	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	13
HP:0000027	HP:0000027	Azoospermia	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000027	HP:0000027	Azoospermia	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0000027	HP:0000027	Azoospermia	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	NR5A1 CL E G H	2516	7983	OMIM:613957	Spermatogenic failure 8	.	38
HP:0000027	HP:0000027	Azoospermia	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0000027	HP:0000027	Azoospermia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000027	HP:0000027	Azoospermia	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000027	HP:0000027	Azoospermia	0	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0000027	HP:0000027	Azoospermia	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0000027	HP:0000027	Azoospermia	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0000027	HP:0000027	Azoospermia	0	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	5
HP:0000027	HP:0000027	Azoospermia	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000027	HP:0000027	Azoospermia	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000027	HP:0000027	Azoospermia	0	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion
HP:0000027	HP:0000027	Azoospermia	0	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000027	HP:0000027	Azoospermia	0	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0000027	HP:0000027	Azoospermia	0	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.
HP:0000027	HP:0000027	Azoospermia	0	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy	.	4
HP:0000027	HP:0000027	Azoospermia	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	.	14
HP:0000027	HP:0000027	Azoospermia	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0000027	HP:0000027	Azoospermia	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0000027	HP:0000027	Azoospermia	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0000027	HP:0000027	Azoospermia	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	SOHLH1 CL E G H	402381	27845	OMIM:618115	Spermatogenic failure 32	.	3
HP:0000027	HP:0000027	Azoospermia	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000027	HP:0000027	Azoospermia	0	SPINK2 CL E G H	6691	11245	OMIM:618091	Spermatogenic failure 29	.
HP:0000027	HP:0000027	Azoospermia	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0000027	HP:0000027	Azoospermia	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0000027	HP:0000027	Azoospermia	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000027	HP:0000027	Azoospermia	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0000027	HP:0000027	Azoospermia	0	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0000027	HP:0000027	Azoospermia	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	45
HP:0000027	HP:0000027	Azoospermia	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.	1
HP:0000027	HP:0000027	Azoospermia	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent	1
HP:0000027	HP:0000027	Azoospermia	0	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.	740
HP:0000027	HP:0000027	Azoospermia	0	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent	78
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4	.	12
HP:0000027	HP:0000027	Azoospermia	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0000027	HP:0000027	Azoospermia	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	TAF4B CL E G H	6875	11538	OMIM:615841	Spermatogenic failure 13	.	1
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	TDRD9 CL E G H	122402	20122	OMIM:618110	Spermatogenic failure 30	.
HP:0000027	HP:0000027	Azoospermia	0	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0000027	HP:0000027	Azoospermia	0	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2	.	5
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	TEX14 CL E G H	56155	11737	OMIM:617707	Spermatogenic failure 23	.	1
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25	.	1
HP:0000027	HP:0000027	Azoospermia	0	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion
HP:0000027	HP:0000027	Azoospermia	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	85
HP:0000027	HP:0000027	Azoospermia	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000027	HP:0000027	Azoospermia	0	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion		2
HP:0000027	HP:0000027	Azoospermia	0	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	2
HP:0000027	HP:0000027	Azoospermia	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000027	HP:0000027	Azoospermia	0	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	.	2
HP:0000027	HP:0000027	Azoospermia	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0000027	HP:0000027	Azoospermia	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000027	HP:0000027	Azoospermia	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0000027	HP:0000027	Azoospermia	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0000027	HP:0000027	Azoospermia	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0000027	HP:0000027	Azoospermia	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:0000027	HP:0000027	Azoospermia	0	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14	.	1
HP:0000027	HP:0000027	Azoospermia	0	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71
HP:0000027	HP:0011963	Pretesticular azoospermia	1	CL E G H
HP:0000027	HP:0011962	Obstructive azoospermia	1	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	5
HP:0000027	HP:0011962	Obstructive azoospermia	1	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011962	Obstructive azoospermia	1	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0000027	HP:0011962	Obstructive azoospermia	1	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	1371
HP:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011961	Non-obstructive azoospermia	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0000027	HP:0011962	Obstructive azoospermia	1	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011961	Non-obstructive azoospermia	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011962	Obstructive azoospermia	1	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011961	Non-obstructive azoospermia	1	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011961	Non-obstructive azoospermia	1	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive azoospermia	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0000027	HP:0011962	Obstructive azoospermia	1	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011961	Non-obstructive azoospermia	1	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive azoospermia	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011961	Non-obstructive azoospermia	1	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive azoospermia	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011962	Obstructive azoospermia	1	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011961	Non-obstructive azoospermia	1	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011961	Non-obstructive azoospermia	1	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent	2
HP:0000027	HP:0011961	Non-obstructive azoospermia	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive 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:0000027	HP:0011962	Obstructive azoospermia	1	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:0000027	HP:0011961	Non-obstructive azoospermia	1	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71

Genes (131) :ADGRG2 ANK1 ANOS1 AR BCL10 BLM BMP2 BPY2 BRCA1 BRCA2 BRCC3 BRIP1 C14ORF39 CATSPER2 CCDC34 CDY1 CDY2A CEP19 CFTR CHD7 CLDN2 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y DHX37 DMRT3 DNAH9 DUSP6 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF17 FGF8 FGFR1 FGFR3 FKBP6 FSHB GATA4 GBA1 GCNA GNRH1 GNRHR HFE HJV HS6ST1 HSD3B2 HSFY1 KDM5D KISS1 KISS1R KIT KLHL10 LHB M1AP MAD2L2 MAP3K1 MC2R MCM8 MEIOB MOV10L1 MRAP MSH4 MSH5 NANOS1 NNT NR0B1 NR5A1 NSMF OCRL PALB2 PDHA2 PNLDC1 PROK2 PROKR2 PRY PRY2 RAD51 RAD51C RBMY1A1 RFWD3 RNF212 RPS4Y2 SCP2 SEMA3A SHOC1 SLC29A3 SLX4 SOHLH1 SOX9 SPINK2 SPRY4 SRY STAG3 STAR STEAP3 STK11 STRC SYCE1 SYCP3 TAC3 TACR3 TAF4B TDRD9 TERB1 TERB2 TEX11 TEX14 TEX15 TSPY1 TXNRD2 UBE2T USP9Y VAMP7 VCY WDR11 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZSWIM7

Diseases (72) :ORPHA:48 OMIM:300985 ORPHA:251066 OMIM:308700 ORPHA:90797 OMIM:312300 OMIM:273300 ORPHA:125 OMIM:210900 OMIM:235200 OMIM:415000 ORPHA:84 ORPHA:280679 ORPHA:399805 OMIM:619202 ORPHA:94064 OMIM:615703 OMIM:277180 ORPHA:432 OMIM:301060 ORPHA:1646 ORPHA:251510 OMIM:618300 OMIM:618086 OMIM:620103 OMIM:229070 ORPHA:52901 ORPHA:2072 OMIM:301077 OMIM:602390 ORPHA:90791 OMIM:614837 OMIM:228300 OMIM:619108 ORPHA:361 OMIM:612885 OMIM:617706 OMIM:619878 OMIM:108420 OMIM:619937 ORPHA:399808 OMIM:615413 OMIM:300200 OMIM:613957 ORPHA:534 OMIM:619828 OMIM:619528 OMIM:619673 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: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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