Human Phenotype Ontology

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:0045058	HP:0045058	Abnormality of the testis size	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0045058	HP:0045058	Abnormality of the testis size	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0045058	HP:0045058	Abnormality of the testis size	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0045058	HP:0045058	Abnormality of the testis size	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0045058	HP:0045058	Abnormality of the testis size	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0045058	HP:0045058	Abnormality of the testis size	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0045058	HP:0045058	Abnormality of the testis size	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0045058	HP:0045058	Abnormality of the testis size	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0045058	HP:0045058	Abnormality of the testis size	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome		166
HP:0045058	HP:0045058	Abnormality of the testis size	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0045058	HP:0045058	Abnormality of the testis size	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0045058	HP:0045058	Abnormality of the testis size	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0045058	HP:0045058	Abnormality of the testis size	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0045058	HP:0045058	Abnormality of the testis size	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0045058	HP:0045058	Abnormality of the testis size	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0045058	HP:0045058	Abnormality of the testis size	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0045058	HP:0045058	Abnormality of the testis size	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0045058	HP:0045058	Abnormality of the testis size	0	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0045058	HP:0045058	Abnormality of the testis size	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0045058	HP:0045058	Abnormality of the testis size	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0045058	HP:0045058	Abnormality of the testis size	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0045058	HP:0045058	Abnormality of the testis size	0	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome		114
HP:0045058	HP:0045058	Abnormality of the testis size	0	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1371
HP:0045058	HP:0045058	Abnormality of the testis size	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0045058	HP:0045058	Abnormality of the testis size	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0045058	HP:0045058	Abnormality of the testis size	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0045058	HP:0045058	Abnormality of the testis size	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0045058	HP:0045058	Abnormality of the testis size	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0045058	HP:0045058	Abnormality of the testis size	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0045058	HP:0045058	Abnormality of the testis size	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0045058	HP:0045058	Abnormality of the testis size	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0045058	HP:0045058	Abnormality of the testis size	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0045058	HP:0045058	Abnormality of the testis size	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0045058	HP:0045058	Abnormality of the testis size	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency		60
HP:0045058	HP:0045058	Abnormality of the testis size	0	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0045058	Abnormality of the testis size	0	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0045058	Abnormality of the testis size	0	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0045058	Abnormality of the testis size	0	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0045058	Abnormality of the testis size	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0045058	HP:0045058	Abnormality of the testis size	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0045058	HP:0045058	Abnormality of the testis size	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0045058	HP:0045058	Abnormality of the testis size	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0045058	HP:0045058	Abnormality of the testis size	0	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0045058	Abnormality of the testis size	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0045058	HP:0045058	Abnormality of the testis size	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0045058	HP:0045058	Abnormality of the testis size	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0045058	HP:0045058	Abnormality of the testis size	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0045058	HP:0045058	Abnormality of the testis size	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0045058	HP:0045058	Abnormality of the testis size	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0045058	HP:0045058	Abnormality of the testis size	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0045058	HP:0045058	Abnormality of the testis size	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0045058	HP:0045058	Abnormality of the testis size	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0045058	HP:0045058	Abnormality of the testis size	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		107
HP:0045058	HP:0045058	Abnormality of the testis size	0	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0045058	HP:0045058	Abnormality of the testis size	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0045058	HP:0045058	Abnormality of the testis size	0	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		3
HP:0045058	HP:0045058	Abnormality of the testis size	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0045058	HP:0045058	Abnormality of the testis size	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0045058	HP:0045058	Abnormality of the testis size	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0045058	HP:0045058	Abnormality of the testis size	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0045058	HP:0045058	Abnormality of the testis size	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0045058	HP:0045058	Abnormality of the testis size	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0045058	HP:0045058	Abnormality of the testis size	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0045058	HP:0045058	Abnormality of the testis size	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0045058	HP:0045058	Abnormality of the testis size	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome		30
HP:0045058	HP:0045058	Abnormality of the testis size	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0045058	HP:0045058	Abnormality of the testis size	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0045058	HP:0045058	Abnormality of the testis size	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0045058	HP:0045058	Abnormality of the testis size	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0045058	HP:0045058	Abnormality of the testis size	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0045058	HP:0045058	Abnormality of the testis size	0	GDF6 CL E G H	392255	4221	OMIM:613094	MICROPHTHALMIA, ISOLATED 4; MCOP4		64
HP:0045058	HP:0045058	Abnormality of the testis size	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0045058	HP:0045058	Abnormality of the testis size	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0045058	HP:0045058	Abnormality of the testis size	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0045058	HP:0045058	Abnormality of the testis size	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0045058	HP:0045058	Abnormality of the testis size	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0045058	HP:0045058	Abnormality of the testis size	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		15
HP:0045058	HP:0045058	Abnormality of the testis size	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0045058	HP:0045058	Abnormality of the testis size	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		92
HP:0045058	HP:0045058	Abnormality of the testis size	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0045058	HP:0045058	Abnormality of the testis size	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0045058	HP:0045058	Abnormality of the testis size	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0045058	HP:0045058	Abnormality of the testis size	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0045058	HP:0045058	Abnormality of the testis size	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0045058	HP:0045058	Abnormality of the testis size	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0045058	HP:0045058	Abnormality of the testis size	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0045058	HP:0045058	Abnormality of the testis size	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0045058	HP:0045058	Abnormality of the testis size	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0045058	HP:0045058	Abnormality of the testis size	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0045058	HP:0045058	Abnormality of the testis size	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0045058	HP:0045058	Abnormality of the testis size	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0045058	HP:0045058	Abnormality of the testis size	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0045058	HP:0045058	Abnormality of the testis size	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0045058	HP:0045058	Abnormality of the testis size	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0045058	HP:0045058	Abnormality of the testis size	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0045058	HP:0045058	Abnormality of the testis size	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0045058	HP:0045058	Abnormality of the testis size	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0045058	HP:0045058	Abnormality of the testis size	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0045058	HP:0045058	Abnormality of the testis size	0	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0045058	HP:0045058	Abnormality of the testis size	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0045058	HP:0045058	Abnormality of the testis size	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0045058	HP:0045058	Abnormality of the testis size	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0045058	HP:0045058	Abnormality of the testis size	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty		67
HP:0045058	HP:0045058	Abnormality of the testis size	0	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male		67
HP:0045058	HP:0045058	Abnormality of the testis size	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0045058	HP:0045058	Abnormality of the testis size	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0045058	HP:0045058	Abnormality of the testis size	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0045058	HP:0045058	Abnormality of the testis size	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0045058	HP:0045058	Abnormality of the testis size	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0045058	HP:0045058	Abnormality of the testis size	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0045058	HP:0045058	Abnormality of the testis size	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0045058	HP:0045058	Abnormality of the testis size	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0045058	HP:0045058	Abnormality of the testis size	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0045058	HP:0045058	Abnormality of the testis size	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0045058	HP:0045058	Abnormality of the testis size	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome		950
HP:0045058	HP:0045058	Abnormality of the testis size	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome		228
HP:0045058	HP:0045058	Abnormality of the testis size	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0045058	HP:0045058	Abnormality of the testis size	0	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0045058	HP:0045058	Abnormality of the testis size	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0045058	HP:0045058	Abnormality of the testis size	0	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0045058	HP:0045058	Abnormality of the testis size	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0045058	HP:0045058	Abnormality of the testis size	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0045058	HP:0045058	Abnormality of the testis size	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0045058	HP:0045058	Abnormality of the testis size	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome		1952
HP:0045058	HP:0045058	Abnormality of the testis size	0	NR0B1 CL E G H	190	7960	ORPHA:393	46,XX testicular disorder of sex development		48
HP:0045058	HP:0045058	Abnormality of the testis size	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0045058	HP:0045058	Abnormality of the testis size	0	NR5A1 CL E G H	2516	7983	ORPHA:393	46,XX testicular disorder of sex development		38
HP:0045058	HP:0045058	Abnormality of the testis size	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0045058	HP:0045058	Abnormality of the testis size	0	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		38
HP:0045058	HP:0045058	Abnormality of the testis size	0	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia		6
HP:0045058	HP:0045058	Abnormality of the testis size	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0045058	HP:0045058	Abnormality of the testis size	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0045058	HP:0045058	Abnormality of the testis size	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0045058	HP:0045058	Abnormality of the testis size	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0045058	HP:0045058	Abnormality of the testis size	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0045058	HP:0045058	Abnormality of the testis size	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0045058	HP:0045058	Abnormality of the testis size	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0045058	HP:0045058	Abnormality of the testis size	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0045058	HP:0045058	Abnormality of the testis size	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type		23
HP:0045058	HP:0045058	Abnormality of the testis size	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency		37
HP:0045058	HP:0045058	Abnormality of the testis size	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0045058	HP:0045058	Abnormality of the testis size	0	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0045058	HP:0045058	Abnormality of the testis size	0	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0045058	HP:0045058	Abnormality of the testis size	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0045058	HP:0045058	Abnormality of the testis size	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0045058	HP:0045058	Abnormality of the testis size	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type		28
HP:0045058	HP:0045058	Abnormality of the testis size	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0045058	HP:0045058	Abnormality of the testis size	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0045058	HP:0045058	Abnormality of the testis size	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome		9
HP:0045058	HP:0045058	Abnormality of the testis size	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0045058	HP:0045058	Abnormality of the testis size	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome		34
HP:0045058	HP:0045058	Abnormality of the testis size	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0045058	HP:0045058	Abnormality of the testis size	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0045058	HP:0045058	Abnormality of the testis size	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0045058	HP:0045058	Abnormality of the testis size	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0045058	HP:0045058	Abnormality of the testis size	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0045058	HP:0045058	Abnormality of the testis size	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0045058	HP:0045058	Abnormality of the testis size	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0045058	HP:0045058	Abnormality of the testis size	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0045058	Abnormality of the testis size	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0045058	HP:0045058	Abnormality of the testis size	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0045058	HP:0045058	Abnormality of the testis size	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0045058	HP:0045058	Abnormality of the testis size	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0045058	HP:0045058	Abnormality of the testis size	0	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0045058	HP:0045058	Abnormality of the testis size	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0045058	HP:0045058	Abnormality of the testis size	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0045058	HP:0045058	Abnormality of the testis size	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0045058	HP:0045058	Abnormality of the testis size	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0045058	HP:0045058	Abnormality of the testis size	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome		14
HP:0045058	HP:0045058	Abnormality of the testis size	0	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		16
HP:0045058	HP:0045058	Abnormality of the testis size	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0045058	HP:0045058	Abnormality of the testis size	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0045058	HP:0045058	Abnormality of the testis size	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0045058	HP:0045058	Abnormality of the testis size	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0045058	HP:0045058	Abnormality of the testis size	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0045058	HP:0045058	Abnormality of the testis size	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0045058	HP:0045058	Abnormality of the testis size	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0045058	HP:0045058	Abnormality of the testis size	0	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0045058	HP:0045058	Abnormality of the testis size	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome		61
HP:0045058	HP:0045058	Abnormality of the testis size	0	SOX3 CL E G H	6658	11199	ORPHA:393	46,XX testicular disorder of sex development		24
HP:0045058	HP:0045058	Abnormality of the testis size	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0045058	HP:0045058	Abnormality of the testis size	0	SOX9 CL E G H	6662	11204	ORPHA:393	46,XX testicular disorder of sex development		109
HP:0045058	HP:0045058	Abnormality of the testis size	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0045058	HP:0045058	Abnormality of the testis size	0	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		5
HP:0045058	HP:0045058	Abnormality of the testis size	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome		5
HP:0045058	HP:0045058	Abnormality of the testis size	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0045058	HP:0045058	Abnormality of the testis size	0	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0045058	HP:0045058	Abnormality of the testis size	0	SRY CL E G H	6736	11311	ORPHA:393	46,XX testicular disorder of sex development		23
HP:0045058	HP:0045058	Abnormality of the testis size	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0045058	HP:0045058	Abnormality of the testis size	0	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		4
HP:0045058	HP:0045058	Abnormality of the testis size	0	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		12
HP:0045058	HP:0045058	Abnormality of the testis size	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0045058	HP:0045058	Abnormality of the testis size	0	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia		34
HP:0045058	HP:0045058	Abnormality of the testis size	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome		34
HP:0045058	HP:0045058	Abnormality of the testis size	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0045058	HP:0045058	Abnormality of the testis size	0	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0045058	HP:0045058	Abnormality of the testis size	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0045058	HP:0045058	Abnormality of the testis size	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0045058	HP:0045058	Abnormality of the testis size	0	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0045058	HP:0045058	Abnormality of the testis size	0	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		5
HP:0045058	HP:0045058	Abnormality of the testis size	0	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0045058	HP:0045058	Abnormality of the testis size	0	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0045058	HP:0045058	Abnormality of the testis size	0	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25		1
HP:0045058	HP:0045058	Abnormality of the testis size	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0045058	HP:0045058	Abnormality of the testis size	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0045058	HP:0045058	Abnormality of the testis size	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0045058	HP:0045058	Abnormality of the testis size	0	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0045058	Abnormality of the testis size	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0045058	HP:0045058	Abnormality of the testis size	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome		33
HP:0045058	HP:0045058	Abnormality of the testis size	0	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0045058	HP:0045058	Abnormality of the testis size	0	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia		10
HP:0045058	HP:0045058	Abnormality of the testis size	0	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		10
HP:0045058	HP:0045058	Abnormality of the testis size	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome		10
HP:0045058	HP:0045058	Abnormality of the testis size	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0045058	HP:0045058	Abnormality of the testis size	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0045058	HP:0045058	Abnormality of the testis size	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0045058	HP:0045058	Abnormality of the testis size	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0045058	HP:0045058	Abnormality of the testis size	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0045058	HP:0045058	Abnormality of the testis size	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0045058	HP:0045058	Abnormality of the testis size	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0045058	HP:0045058	Abnormality of the testis size	0	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		125
HP:0045058	HP:0045058	Abnormality of the testis size	0	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0045058	HP:0045058	Abnormality of the testis size	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome		10
HP:0045058	HP:0045058	Abnormality of the testis size	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0045058	HP:0045058	Abnormality of the testis size	0	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0045058	HP:0045058	Abnormality of the testis size	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0045058	HP:0000053	Macroorchidism	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040282 - Frequent	76
HP:0045058	HP:0000053	Macroorchidism	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0045058	HP:0000053	Macroorchidism	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0045058	HP:0000053	Macroorchidism	1	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent	166
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome		114
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1371
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		515
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0045058	HP:0000053	Macroorchidism	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0045058	HP:0000053	Macroorchidism	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0045058	HP:0000053	Macroorchidism	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency		60
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome	HP:0040281 - Very frequent	2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		4
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		4
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		107
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28		107
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia		2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		3
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		17
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		172
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0045058	HP:0000053	Macroorchidism	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0045058	HP:0000053	Macroorchidism	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent	30
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome		30
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GDF6 CL E G H	392255	4221	OMIM:613094	MICROPHTHALMIA, ISOLATED 4; MCOP4		64
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0045058	HP:0000053	Macroorchidism	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent	101
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		15
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		15
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		92
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		92
HP:0045058	HP:0000053	Macroorchidism	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		8
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0045058	HP:0000053	Macroorchidism	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		3
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia		14
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		14
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0045058	HP:0000053	Macroorchidism	1	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040283 - Occasional	67
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male		67
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0045058	HP:0000053	Macroorchidism	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0045058	HP:0000053	Macroorchidism	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040281 - Very frequent	950
HP:0045058	HP:0000053	Macroorchidism	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0045058	HP:0000053	Macroorchidism	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	228
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		4
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation		4
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0045058	HP:0000053	Macroorchidism	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional	1952
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NR0B1 CL E G H	190	7960	ORPHA:393	46,XX testicular disorder of sex development		48
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NR5A1 CL E G H	2516	7983	ORPHA:393	46,XX testicular disorder of sex development		38
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		38
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia		6
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0045058	HP:0000053	Macroorchidism	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type		23
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency		37
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type		2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type		28
HP:0045058	HP:0000053	Macroorchidism	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome		9
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		9
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome		34
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0045058	HP:0000053	Macroorchidism	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0045058	HP:0000053	Macroorchidism	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome		14
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		16
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		3
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome		61
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SOX3 CL E G H	6658	11199	ORPHA:393	46,XX testicular disorder of sex development		24
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SOX9 CL E G H	6662	11204	ORPHA:393	46,XX testicular disorder of sex development		109
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		5
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome		5
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		5
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SRY CL E G H	6736	11311	ORPHA:393	46,XX testicular disorder of sex development		23
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		4
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		12
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		6
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia		34
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome		34
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		34
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		5
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25		1
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0045058	HP:0000053	Macroorchidism	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0045058	HP:0000053	Macroorchidism	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	33
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion		2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia		10
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia		10
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome		10
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism		10
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		125
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0045058	HP:0000053	Macroorchidism	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	10
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation		1
HP:0045058	HP:0010468	Aplasia/Hypoplasia of the testes	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0045058	HP:0008734	Decreased testicular size	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0045058	HP:0008734	Decreased testicular size	2	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0045058	HP:0008734	Decreased testicular size	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	65
HP:0045058	HP:0008734	Decreased testicular size	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0045058	HP:0008734	Decreased testicular size	2	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0045058	HP:0008734	Decreased testicular size	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0045058	HP:0008734	Decreased testicular size	2	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0045058	HP:0008734	Decreased testicular size	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	HP:0040283 - Occasional	17
HP:0045058	HP:0008734	Decreased testicular size	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0045058	HP:0010469	Absent testis	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0045058	HP:0010469	Absent testis	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0045058	HP:0008734	Decreased testicular size	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0045058	HP:0010469	Absent testis	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	2	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0045058	HP:0008734	Decreased testicular size	2	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0045058	HP:0008734	Decreased testicular size	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	2	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	HP:0040281 - Very frequent	114
HP:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	2	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	515
HP:0045058	HP:0008734	Decreased testicular size	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0045058	HP:0008734	Decreased testicular size	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040282 - Frequent	4
HP:0045058	HP:0008734	Decreased testicular size	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	HP:0040283 - Occasional	17
HP:0045058	HP:0008734	Decreased testicular size	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0045058	HP:0008734	Decreased testicular size	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0045058	HP:0008734	Decreased testicular size	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0045058	HP:0008734	Decreased testicular size	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040282 - Frequent	2
HP:0045058	HP:0008734	Decreased testicular size	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0045058	HP:0008734	Decreased testicular size	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0045058	HP:0008734	Decreased testicular size	2	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0045058	HP:0008734	Decreased testicular size	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040282 - Frequent	53
HP:0045058	HP:0002050	Macroorchidism, postpubertal	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040282 - Frequent	60
HP:0045058	HP:0008734	Decreased testicular size	2	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0045058	HP:0008734	Decreased testicular size	2	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0045058	HP:0008734	Decreased testicular size	2	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0045058	HP:0008734	Decreased testicular size	2	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0045058	HP:0008734	Decreased testicular size	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0045058	HP:0008734	Decreased testicular size	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0045058	HP:0008734	Decreased testicular size	2	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	36
HP:0045058	HP:0008734	Decreased testicular size	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0045058	HP:0008734	Decreased testicular size	2	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0045058	HP:0008734	Decreased testicular size	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0045058	HP:0010469	Absent testis	2	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome	HP:0040281 - Very frequent	2
HP:0045058	HP:0008734	Decreased testicular size	2	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome	HP:0040281 - Very frequent	2
HP:0045058	HP:0008734	Decreased testicular size	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0045058	HP:0008734	Decreased testicular size	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0045058	HP:0008734	Decreased testicular size	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0045058	HP:0008734	Decreased testicular size	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0045058	HP:0008734	Decreased testicular size	2	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	4
HP:0045058	HP:0008734	Decreased testicular size	2	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0045058	HP:0008734	Decreased testicular size	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0045058	HP:0008734	Decreased testicular size	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0045058	HP:0008734	Decreased testicular size	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0045058	HP:0010469	Absent testis	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0045058	HP:0008734	Decreased testicular size	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0045058	HP:0008734	Decreased testicular size	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0045058	HP:0008734	Decreased testicular size	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0045058	HP:0010469	Absent testis	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0045058	HP:0010469	Absent testis	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0045058	HP:0010469	Absent testis	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0045058	HP:0010469	Absent testis	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0045058	HP:0010469	Absent testis	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0045058	HP:0010469	Absent testis	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0045058	HP:0010469	Absent testis	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0045058	HP:0010469	Absent testis	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0045058	HP:0010469	Absent testis	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0045058	HP:0010469	Absent testis	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	2	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0045058	HP:0008734	Decreased testicular size	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0045058	HP:0008734	Decreased testicular size	2	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia	.	2
HP:0045058	HP:0008734	Decreased testicular size	2	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	2
HP:0045058	HP:0008734	Decreased testicular size	2	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	2
HP:0045058	HP:0008734	Decreased testicular size	2	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	3
HP:0045058	HP:0008734	Decreased testicular size	2	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	3
HP:0045058	HP:0008734	Decreased testicular size	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0045058	HP:0008734	Decreased testicular size	2	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	17
HP:0045058	HP:0008734	Decreased testicular size	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0045058	HP:0008734	Decreased testicular size	2	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	172
HP:0045058	HP:0008734	Decreased testicular size	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0045058	HP:0008734	Decreased testicular size	2	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0045058	HP:0008640	Congenital macroorchidism	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0045058	HP:0002050	Macroorchidism, postpubertal	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0045058	HP:0008734	Decreased testicular size	2	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent	30
HP:0045058	HP:0008734	Decreased testicular size	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0045058	HP:0008734	Decreased testicular size	2	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia	.	23
HP:0045058	HP:0008734	Decreased testicular size	2	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0045058	HP:0008734	Decreased testicular size	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0045058	HP:0008734	Decreased testicular size	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0045058	HP:0010469	Absent testis	2	GDF6 CL E G H	392255	4221	OMIM:613094	MICROPHTHALMIA, ISOLATED 4; MCOP4		64
HP:0045058	HP:0008734	Decreased testicular size	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0045058	HP:0008734	Decreased testicular size	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0045058	HP:0008734	Decreased testicular size	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270
HP:0045058	HP:0008734	Decreased testicular size	2	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0045058	HP:0008734	Decreased testicular size	2	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	15
HP:0045058	HP:0008734	Decreased testicular size	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0045058	HP:0008734	Decreased testicular size	2	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	92
HP:0045058	HP:0008734	Decreased testicular size	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0045058	HP:0008734	Decreased testicular size	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0045058	HP:0008734	Decreased testicular size	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0045058	HP:0008734	Decreased testicular size	2	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	21
HP:0045058	HP:0008734	Decreased testicular size	2	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	.	8
HP:0045058	HP:0008734	Decreased testicular size	2	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	8
HP:0045058	HP:0008734	Decreased testicular size	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0045058	HP:0008734	Decreased testicular size	2	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0045058	HP:0008734	Decreased testicular size	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0045058	HP:0008734	Decreased testicular size	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0045058	HP:0008734	Decreased testicular size	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0045058	HP:0008734	Decreased testicular size	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0045058	HP:0008734	Decreased testicular size	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0045058	HP:0008734	Decreased testicular size	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0045058	HP:0008734	Decreased testicular size	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0045058	HP:0008734	Decreased testicular size	2	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0045058	HP:0008734	Decreased testicular size	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	2	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0045058	HP:0008734	Decreased testicular size	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0045058	HP:0008734	Decreased testicular size	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0045058	HP:0008734	Decreased testicular size	2	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male	.	67
HP:0045058	HP:0008734	Decreased testicular size	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0045058	HP:0010469	Absent testis	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0045058	HP:0008734	Decreased testicular size	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0045058	HP:0008734	Decreased testicular size	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0045058	HP:0008734	Decreased testicular size	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0045058	HP:0008734	Decreased testicular size	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0045058	HP:0008734	Decreased testicular size	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0045058	HP:0008734	Decreased testicular size	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0045058	HP:0008734	Decreased testicular size	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0045058	HP:0008734	Decreased testicular size	2	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10	.	4
HP:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0045058	HP:0008734	Decreased testicular size	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0045058	HP:0008734	Decreased testicular size	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0045058	HP:0008734	Decreased testicular size	2	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0045058	HP:0008734	Decreased testicular size	2	NR0B1 CL E G H	190	7960	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	48
HP:0045058	HP:0008734	Decreased testicular size	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0045058	HP:0008734	Decreased testicular size	2	NR5A1 CL E G H	2516	7983	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	38
HP:0045058	HP:0008734	Decreased testicular size	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	2	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	.	6
HP:0045058	HP:0008734	Decreased testicular size	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0045058	HP:0008734	Decreased testicular size	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0045058	HP:0008734	Decreased testicular size	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0045058	HP:0008734	Decreased testicular size	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0045058	HP:0008734	Decreased testicular size	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0045058	HP:0008734	Decreased testicular size	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0045058	HP:0010469	Absent testis	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0045058	HP:0008734	Decreased testicular size	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0045058	HP:0008734	Decreased testicular size	2	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040282 - Frequent	23
HP:0045058	HP:0008734	Decreased testicular size	2	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.	37
HP:0045058	HP:0008734	Decreased testicular size	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	2	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0045058	HP:0008734	Decreased testicular size	2	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent	2
HP:0045058	HP:0008734	Decreased testicular size	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0045058	HP:0008734	Decreased testicular size	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0045058	HP:0008734	Decreased testicular size	2	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent	28
HP:0045058	HP:0008734	Decreased testicular size	2	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	.	9
HP:0045058	HP:0008734	Decreased testicular size	2	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0045058	HP:0008734	Decreased testicular size	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0045058	HP:0008734	Decreased testicular size	2	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0045058	HP:0008734	Decreased testicular size	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0045058	HP:0008734	Decreased testicular size	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0045058	HP:0008734	Decreased testicular size	2	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0045058	HP:0008734	Decreased testicular size	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0045058	HP:0010469	Absent testis	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0045058	HP:0010469	Absent testis	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0045058	HP:0008734	Decreased testicular size	2	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0045058	HP:0010469	Absent testis	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0045058	HP:0008734	Decreased testicular size	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0045058	HP:0008734	Decreased testicular size	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0045058	HP:0008734	Decreased testicular size	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0045058	HP:0008734	Decreased testicular size	2	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0045058	HP:0008734	Decreased testicular size	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0045058	HP:0008734	Decreased testicular size	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0045058	HP:0008734	Decreased testicular size	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0045058	HP:0008734	Decreased testicular size	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent	34
HP:0045058	HP:0008734	Decreased testicular size	2	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	.	14
HP:0045058	HP:0008734	Decreased testicular size	2	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	14
HP:0045058	HP:0008734	Decreased testicular size	2	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	16
HP:0045058	HP:0008734	Decreased testicular size	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0045058	HP:0008734	Decreased testicular size	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040281 - Very frequent	68
HP:0045058	HP:0008734	Decreased testicular size	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0045058	HP:0010469	Absent testis	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0045058	HP:0008734	Decreased testicular size	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0045058	HP:0008734	Decreased testicular size	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0045058	HP:0008734	Decreased testicular size	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0045058	HP:0008734	Decreased testicular size	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:0045058	HP:0008734	Decreased testicular size	2	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	61
HP:0045058	HP:0008734	Decreased testicular size	2	SOX3 CL E G H	6658	11199	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	24
HP:0045058	HP:0008734	Decreased testicular size	2	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0045058	HP:0008734	Decreased testicular size	2	SOX9 CL E G H	6662	11204	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	109
HP:0045058	HP:0008734	Decreased testicular size	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0045058	HP:0008734	Decreased testicular size	2	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	5
HP:0045058	HP:0008734	Decreased testicular size	2	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	5
HP:0045058	HP:0008734	Decreased testicular size	2	SPRY4 CL E G H	81848	15533