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:
Decreased fertility (HP:0000144)

Parent Node:
Decreased fertility in males (HP:0012041)

Parent Node:
Infertility (HP:0000789)

..Starting node
..Male infertility (HP:0003251)

Term ID:

3251

Name:

Male infertility

Synonym:

Male infertility

Definition:

Comments:

Reference:

HP:0003251

Genes and Diseases:

Child Nodes:

Sister Nodes:

Female infertility (HP:0008222)

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:0003251	HP:0003251	Male infertility	0	ACTL9 CL E G H	284382	28494	OMIM:619258	SPERMATOGENIC FAILURE 53; SPGF53
HP:0003251	HP:0003251	Male infertility	0	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	5
HP:0003251	HP:0003251	Male infertility	0	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked		5
HP:0003251	HP:0003251	Male infertility	0	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0003251	HP:0003251	Male infertility	0	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0003251	HP:0003251	Male infertility	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0003251	HP:0003251	Male infertility	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0003251	HP:0003251	Male infertility	0	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0003251	HP:0003251	Male infertility	0	AURKC CL E G H	6795	11391	OMIM:243060	Male infertility with large-headed, multiflagellar, polyploid spermatozoa	.	12
HP:0003251	HP:0003251	Male infertility	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0003251	HP:0003251	Male infertility	0	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0003251	HP:0003251	Male infertility	0	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0003251	HP:0003251	Male infertility	0	C2CD6 CL E G H	151254	14438	OMIM:619805	SPERMATOGENIC FAILURE 68; SPGF68		1
HP:0003251	HP:0003251	Male infertility	0	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0003251	HP:0003251	Male infertility	0	CATSPER1 CL E G H	117144	17116	OMIM:612997	Spermatogenic failure 7	.	45
HP:0003251	HP:0003251	Male infertility	0	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility	.	12
HP:0003251	HP:0003251	Male infertility	0	CATSPER2 CL E G H	117155	18810	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent	12
HP:0003251	HP:0003251	Male infertility	0	CATSPER2 CL E G H	117155	18810	OMIM:612997	Spermatogenic failure 7	.	12
HP:0003251	HP:0003251	Male infertility	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	36
HP:0003251	HP:0003251	Male infertility	0	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0003251	HP:0003251	Male infertility	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0003251	HP:0003251	Male infertility	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	126
HP:0003251	HP:0003251	Male infertility	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	182
HP:0003251	HP:0003251	Male infertility	0	CCDC62 CL E G H	84660	30723	OMIM:619803	SPERMATOGENIC FAILURE 67; SPGF67
HP:0003251	HP:0003251	Male infertility	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0003251	HP:0003251	Male infertility	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	23
HP:0003251	HP:0003251	Male infertility	0	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm		2
HP:0003251	HP:0003251	Male infertility	0	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	CEP112 CL E G H	201134	28514	OMIM:619044	SPERMATOGENIC FAILURE 44; SPGF44		1
HP:0003251	HP:0003251	Male infertility	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	CFAP43 CL E G H	80217	26684	OMIM:617592	Spermatogenic failure 19		6
HP:0003251	HP:0003251	Male infertility	0	CFAP44 CL E G H	55779	25631	OMIM:617593	Spermatogenic failure 20		1
HP:0003251	HP:0003251	Male infertility	0	CFAP47 CL E G H	286464	26708	OMIM:301059	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3		1
HP:0003251	HP:0003251	Male infertility	0	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0003251	HP:0003251	Male infertility	0	CFAP58 CL E G H	159686	26676	OMIM:619144	SPERMATOGENIC FAILURE 49; SPGF49
HP:0003251	HP:0003251	Male infertility	0	CFAP65 CL E G H	255101	25325	OMIM:618664	SPERMATOGENIC FAILURE 40; SPGF40		1
HP:0003251	HP:0003251	Male infertility	0	CFAP70 CL E G H	118491	30726	OMIM:618670	SPERMATOGENIC FAILURE 41; SPGF41
HP:0003251	HP:0003251	Male infertility	0	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	1371
HP:0003251	HP:0003251	Male infertility	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0003251	HP:0003251	Male infertility	0	CFTR CL E G H	1080	1884	OMIM:277180	Vas deferens, congenital bilateral aplasia of		1371
HP:0003251	HP:0003251	Male infertility	0	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0003251	HP:0003251	Male infertility	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0003251	HP:0003251	Male infertility	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0003251	HP:0003251	Male infertility	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0003251	HP:0003251	Male infertility	0	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003251	HP:0003251	Male infertility	0	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003251	HP:0003251	Male infertility	0	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003251	HP:0003251	Male infertility	0	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003251	HP:0003251	Male infertility	0	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003251	HP:0003251	Male infertility	0	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0003251	HP:0003251	Male infertility	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0003251	HP:0003251	Male infertility	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	116
HP:0003251	HP:0003251	Male infertility	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0003251	HP:0003251	Male infertility	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	78
HP:0003251	HP:0003251	Male infertility	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	63
HP:0003251	HP:0003251	Male infertility	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	27
HP:0003251	HP:0003251	Male infertility	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0003251	HP:0003251	Male infertility	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	62
HP:0003251	HP:0003251	Male infertility	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0003251	HP:0003251	Male infertility	0	DNAH10 CL E G H	196385	2941	OMIM:619515	SPERMATOGENIC FAILURE 56; SPGF56		18
HP:0003251	HP:0003251	Male infertility	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	542
HP:0003251	HP:0003251	Male infertility	0	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0003251	HP:0003251	Male infertility	0	DNAH2 CL E G H	146754	2948	OMIM:619094	SPERMATOGENIC FAILURE 45; SPGF45		15
HP:0003251	HP:0003251	Male infertility	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	527
HP:0003251	HP:0003251	Male infertility	0	DNAH8 CL E G H	1769	2952	OMIM:619095	SPERMATOGENIC FAILURE 46; SPGF46		153
HP:0003251	HP:0003251	Male infertility	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	18
HP:0003251	HP:0003251	Male infertility	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0003251	HP:0003251	Male infertility	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	73
HP:0003251	HP:0003251	Male infertility	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0003251	HP:0003251	Male infertility	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	104
HP:0003251	HP:0003251	Male infertility	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0003251	HP:0003251	Male infertility	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	2
HP:0003251	HP:0003251	Male infertility	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	167
HP:0003251	HP:0003251	Male infertility	0	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0003251	HP:0003251	Male infertility	0	DPY19L2 CL E G H	283417	19414	OMIM:613958	Spermatogenic failure 9		17
HP:0003251	HP:0003251	Male infertility	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	44
HP:0003251	HP:0003251	Male infertility	0	DZIP1 CL E G H	22873	20908	OMIM:619102	SPERMATOGENIC FAILURE 47; SPGF47
HP:0003251	HP:0003251	Male infertility	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0003251	HP:0003251	Male infertility	0	FBXO43 CL E G H	286151	28521	OMIM:619696	SPERMATOGENIC FAILURE 64; SPGF64
HP:0003251	HP:0003251	Male infertility	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0003251	HP:0003251	Male infertility	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0003251	HP:0003251	Male infertility	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040281 - Very frequent	351
HP:0003251	HP:0003251	Male infertility	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	1
HP:0003251	HP:0003251	Male infertility	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	9
HP:0003251	HP:0003251	Male infertility	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0003251	HP:0003251	Male infertility	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040282 - Frequent	51
HP:0003251	HP:0003251	Male infertility	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0003251	HP:0003251	Male infertility	0	GGN CL E G H	199720	18869	OMIM:619826	SPERMATOGENIC FAILURE 69; SPGF69
HP:0003251	HP:0003251	Male infertility	0	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		1
HP:0003251	HP:0003251	Male infertility	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	21
HP:0003251	HP:0003251	Male infertility	0	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58		3
HP:0003251	HP:0003251	Male infertility	0	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	KLHL10 CL E G H	317719	18829	OMIM:615081	SPERMATOGENIC FAILURE 11; SPGF11		3
HP:0003251	HP:0003251	Male infertility	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040281 - Very frequent	67
HP:0003251	HP:0003251	Male infertility	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	M1AP CL E G H	130951	25183	OMIM:619108	SPERMATOGENIC FAILURE 48; SPGF48
HP:0003251	HP:0003251	Male infertility	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0003251	HP:0003251	Male infertility	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0003251	HP:0003251	Male infertility	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	13
HP:0003251	HP:0003251	Male infertility	0	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0003251	HP:0003251	Male infertility	0	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0003251	HP:0003251	Male infertility	0	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0003251	HP:0003251	Male infertility	0	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0003251	HP:0003251	Male infertility	0	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0003251	HP:0003251	Male infertility	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	50
HP:0003251	HP:0003251	Male infertility	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0003251	HP:0003251	Male infertility	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0003251	HP:0003251	Male infertility	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	201
HP:0003251	HP:0003251	Male infertility	0	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0003251	HP:0003251	Male infertility	0	PMFBP1 CL E G H	83449	17728	ORPHA:529970	Male infertility due to acephalic spermatozoa	HP:0040281 - Very frequent
HP:0003251	HP:0003251	Male infertility	0	PMFBP1 CL E G H	83449	17728	OMIM:618112	SPERMATOGENIC FAILURE 31; SPGF31
HP:0003251	HP:0003251	Male infertility	0	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0003251	HP:0003251	Male infertility	0	PPP2R3C CL E G H	55012	17485	OMIM:618420	Spermatogenic failure 36
HP:0003251	HP:0003251	Male infertility	0	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		5
HP:0003251	HP:0003251	Male infertility	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0003251	HP:0003251	Male infertility	0	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003251	HP:0003251	Male infertility	0	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0003251	HP:0003251	Male infertility	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	200
HP:0003251	HP:0003251	Male infertility	0	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0003251	HP:0003251	Male infertility	0	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003251	HP:0003251	Male infertility	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	31
HP:0003251	HP:0003251	Male infertility	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	5
HP:0003251	HP:0003251	Male infertility	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	58
HP:0003251	HP:0003251	Male infertility	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0003251	HP:0003251	Male infertility	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0003251	HP:0003251	Male infertility	0	SLC26A8 CL E G H	116369	14468	OMIM:606766	Spermatogenic failure 3		3
HP:0003251	HP:0003251	Male infertility	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0003251	HP:0003251	Male infertility	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	45
HP:0003251	HP:0003251	Male infertility	0	SPAG17 CL E G H	200162	26620	OMIM:619380	SPERMATOGENIC FAILURE 55; SPGF55		2
HP:0003251	HP:0003251	Male infertility	0	SPATA16 CL E G H	83893	29935	OMIM:102530	SPERMATOGENIC FAILURE 6; SPGF6		31
HP:0003251	HP:0003251	Male infertility	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	15
HP:0003251	HP:0003251	Male infertility	0	SPEF2 CL E G H	79925	26293	OMIM:618751	SPERMATOGENIC FAILURE 43; SPGF43		15
HP:0003251	HP:0003251	Male infertility	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0003251	HP:0003251	Male infertility	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0003251	HP:0003251	Male infertility	0	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0003251	HP:0003251	Male infertility	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	3
HP:0003251	HP:0003251	Male infertility	0	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility	.	78
HP:0003251	HP:0003251	Male infertility	0	STRC CL E G H	161497	16035	ORPHA:94064	Deafness-infertility syndrome	HP:0040281 - Very frequent	78
HP:0003251	HP:0003251	Male infertility	0	STRC CL E G H	161497	16035	OMIM:612997	Spermatogenic failure 7	.	78
HP:0003251	HP:0003251	Male infertility	0	SUN5 CL E G H	140732	16252	ORPHA:529970	Male infertility due to acephalic spermatozoa	HP:0040281 - Very frequent	6
HP:0003251	HP:0003251	Male infertility	0	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0003251	HP:0003251	Male infertility	0	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0003251	HP:0003251	Male infertility	0	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4		12
HP:0003251	HP:0003251	Male infertility	0	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0003251	HP:0003251	Male infertility	0	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0003251	HP:0003251	Male infertility	0	TEX11 CL E G H	56159	11733	OMIM:309120	SPERMATOGENIC FAILURE, X-LINKED, 2	.	5
HP:0003251	HP:0003251	Male infertility	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13
HP:0003251	HP:0003251	Male infertility	0	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0003251	HP:0003251	Male infertility	0	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0003251	HP:0003251	Male infertility	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent
HP:0003251	HP:0003251	Male infertility	0	TTC21A CL E G H	199223	30761	OMIM:618429	Spermatogenic failure 37
HP:0003251	HP:0003251	Male infertility	0	TTC29 CL E G H	83894	29936	OMIM:618745	SPERMATOGENIC FAILURE 42; SPGF42
HP:0003251	HP:0003251	Male infertility	0	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent	2
HP:0003251	HP:0003251	Male infertility	0	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0003251	HP:0003251	Male infertility	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0003251	HP:0003251	Male infertility	0	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0003251	HP:0003251	Male infertility	0	WDR19 CL E G H	57728	18340	OMIM:619867			95
HP:0003251	HP:0003251	Male infertility	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0003251	HP:0003251	Male infertility	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0003251	HP:0003251	Male infertility	0	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0003251	HP:0003251	Male infertility	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0003251	HP:0003251	Male infertility	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040282 - Frequent	20
HP:0003251	HP:0003251	Male infertility	0	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0003251	HP:0003251	Male infertility	0	ZPBP CL E G H	11055	15662	OMIM:619799	SPERMATOGENIC FAILURE 66; SPGF66
HP:0003251	HP:0003251	Male infertility	0	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71

Genes (159) :ACTL9 ADGRG2 AMH AMHR2 AR ARMC2 AURKC BLM BPY2 BRAF C14ORF39 C2CD6 CATIP CATSPER1 CATSPER2 CCDC103 CCDC34 CCDC39 CCDC40 CCDC62 CCDC65 CCNO CDC14A CDY1 CDY2A CEP112 CFAP221 CFAP298 CFAP300 CFAP43 CFAP44 CFAP47 CFAP52 CFAP58 CFAP65 CFAP70 CFTR CLDN2 CTNS CYP17A1 CYP19A1 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y DHX37 DMRT3 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNHD1 DPY19L2 DRC1 DZIP1 FANCA FBXO43 FCGR2A FKBP6 FOXJ1 GALT GAS2L2 GAS8 GATA4 GCM2 GCNA GGN HSFY1 HYDIN IFT74 KDM5D KLHL10 LHCGR LRRC56 M1AP MAP2K1 MAP3K1 MCIDAS MEIOB MNS1 MOV10L1 MSH4 MSH5 NEK10 NME8 NR0B1 NR5A1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PDHA2 PMFBP1 PNLDC1 PPP2R3C PRY PRY2 PTPN11 RBMY1A1 RNF212 RPGR RPL10L RPS4Y2 RSPH1 RSPH3 RSPH4A RSPH9 SHOC1 SLC26A8 SOX9 SPAG1 SPAG17 SPATA16 SPEF2 SRY STAG3 STK36 STRC SUN5 SYCE1 SYCP2 SYCP3 TERB1 TERB2 TEX11 TGFB1 TSPY1 TTC12 TTC21A TTC29 USP9Y VAMP7 VCY WDR19 WT1 WWOX XRCC2 ZFPM2 ZMYND10 ZMYND15 ZPBP ZSWIM7

Diseases (94) :OMIM:619258 ORPHA:48 OMIM:300985 OMIM:261550 ORPHA:99429 ORPHA:90797 OMIM:618433 OMIM:243060 ORPHA:125 OMIM:415000 OMIM:163950 OMIM:619202 OMIM:619805 OMIM:619379 OMIM:612997 OMIM:611102 ORPHA:94064 ORPHA:244 OMIM:620084 OMIM:613807 OMIM:619803 OMIM:608653 OMIM:619044 OMIM:617592 OMIM:617593 OMIM:301059 OMIM:619607 OMIM:619144 OMIM:618664 OMIM:618670 OMIM:219700 OMIM:277180 OMIM:301060 OMIM:219800 ORPHA:90793 ORPHA:91 ORPHA:1646 ORPHA:251510 OMIM:614935 OMIM:614874 OMIM:619515 OMIM:618643 OMIM:619094 OMIM:619095 OMIM:244400 OMIM:612444 OMIM:617091 OMIM:619712 OMIM:613958 OMIM:619102 OMIM:227650 OMIM:619696 OMIM:620103 ORPHA:79239 ORPHA:2239 OMIM:301077 OMIM:619826 OMIM:619585 OMIM:615081 ORPHA:3000 OMIM:619108 OMIM:617706 OMIM:618948 OMIM:619878 OMIM:108420 OMIM:619937 OMIM:619828 ORPHA:529970 OMIM:618112 OMIM:619528 OMIM:618420 OMIM:619673 OMIM:619689 OMIM:619949 OMIM:606766 OMIM:619380 OMIM:102530 OMIM:618751 ORPHA:1772 OMIM:619672 OMIM:616950 OMIM:258150 OMIM:270960 OMIM:619646 OMIM:619645 OMIM:309120 OMIM:618801 OMIM:618429 OMIM:618745 OMIM:619867 OMIM:619145 OMIM:615842 OMIM:619799 OMIM:619831

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

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