Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
External genital hypoplasia (HP:0003241)

Parent Node:
Aplasia/Hypoplasia of the testes (HP:0010468)

Parent Node:
Hypoplastic male external genitalia (HP:0000050)

..Starting node
..Decreased testicular size (HP:0008734)

Term ID:

8734

Name:

Decreased testicular size

Synonym:

Decreased testicular size; Hypoplastic testes; Small testes; Small testis; Testicular hypoplasia

Definition:

Reduced volume of the testicle (the male gonad).

Comments:

Reference:

HP:0008734

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of penis (HP:0008736)

Small scrotum (HP:0000046)

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:0008734	HP:0008734	Decreased testicular size	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0008734	HP:0008734	Decreased testicular size	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0008734	HP:0008734	Decreased testicular size	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	65
HP:0008734	HP:0008734	Decreased testicular size	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0008734	HP:0008734	Decreased testicular size	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0008734	HP:0008734	Decreased testicular size	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0008734	HP:0008734	Decreased testicular size	0	AXL CL E G H	558	905	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0008734	HP:0008734	Decreased testicular size	0	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:0008734	HP:0008734	Decreased testicular size	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0008734	HP:0008734	Decreased testicular size	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0008734	HP:0008734	Decreased testicular size	0	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	CCDC141 CL E G H	285025	26821	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0008734	HP:0008734	Decreased testicular size	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0008734	HP:0008734	Decreased testicular size	0	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	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:0008734	HP:0008734	Decreased testicular size	0	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1371
HP:0008734	HP:0008734	Decreased testicular size	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	515
HP:0008734	HP:0008734	Decreased testicular size	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0008734	HP:0008734	Decreased testicular size	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040282 - Frequent	4
HP:0008734	HP:0008734	Decreased testicular size	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	HP:0040283 - Occasional	17
HP:0008734	HP:0008734	Decreased testicular size	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0008734	HP:0008734	Decreased testicular size	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0008734	HP:0008734	Decreased testicular size	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0008734	HP:0008734	Decreased testicular size	0	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:0008734	HP:0008734	Decreased testicular size	0	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:0008734	HP:0008734	Decreased testicular size	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0008734	HP:0008734	Decreased testicular size	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0008734	HP:0008734	Decreased testicular size	0	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:0008734	HP:0008734	Decreased testicular size	0	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0008734	HP:0008734	Decreased testicular size	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0008734	HP:0008734	Decreased testicular size	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	36
HP:0008734	HP:0008734	Decreased testicular size	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0008734	HP:0008734	Decreased testicular size	0	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008734	HP:0008734	Decreased testicular size	0	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome	HP:0040281 - Very frequent	2
HP:0008734	HP:0008734	Decreased testicular size	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0008734	HP:0008734	Decreased testicular size	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0008734	HP:0008734	Decreased testicular size	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0008734	HP:0008734	Decreased testicular size	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0008734	HP:0008734	Decreased testicular size	0	DUSP6 CL E G H	1848	3072	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	4
HP:0008734	HP:0008734	Decreased testicular size	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0008734	HP:0008734	Decreased testicular size	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0008734	HP:0008734	Decreased testicular size	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0008734	HP:0008734	Decreased testicular size	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0008734	HP:0008734	Decreased testicular size	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0008734	HP:0008734	Decreased testicular size	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0008734	HP:0008734	Decreased testicular size	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0008734	HP:0008734	Decreased testicular size	0	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	107
HP:0008734	HP:0008734	Decreased testicular size	0	FANCM CL E G H	57697	23168	OMIM:618086	Spermatogenic failure 28	.	107
HP:0008734	HP:0008734	Decreased testicular size	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0008734	HP:0008734	Decreased testicular size	0	FEZF1 CL E G H	389549	22788	OMIM:616030	Hypogonadotropic hypogonadism 22 with or without anosmia	.	2
HP:0008734	HP:0008734	Decreased testicular size	0	FEZF1 CL E G H	389549	22788	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	2
HP:0008734	HP:0008734	Decreased testicular size	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	2
HP:0008734	HP:0008734	Decreased testicular size	0	FGF17 CL E G H	8822	3673	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	3
HP:0008734	HP:0008734	Decreased testicular size	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	3
HP:0008734	HP:0008734	Decreased testicular size	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0008734	HP:0008734	Decreased testicular size	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	17
HP:0008734	HP:0008734	Decreased testicular size	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0008734	HP:0008734	Decreased testicular size	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	172
HP:0008734	HP:0008734	Decreased testicular size	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0008734	HP:0008734	Decreased testicular size	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	4
HP:0008734	HP:0008734	Decreased testicular size	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040281 - Very frequent	30
HP:0008734	HP:0008734	Decreased testicular size	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0008734	HP:0008734	Decreased testicular size	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia	.	23
HP:0008734	HP:0008734	Decreased testicular size	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0008734	HP:0008734	Decreased testicular size	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0008734	HP:0008734	Decreased testicular size	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0008734	HP:0008734	Decreased testicular size	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0008734	HP:0008734	Decreased testicular size	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0008734	HP:0008734	Decreased testicular size	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270
HP:0008734	HP:0008734	Decreased testicular size	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0008734	HP:0008734	Decreased testicular size	0	GNRH1 CL E G H	2796	4419	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	15
HP:0008734	HP:0008734	Decreased testicular size	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0008734	HP:0008734	Decreased testicular size	0	GNRHR CL E G H	2798	4421	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	92
HP:0008734	HP:0008734	Decreased testicular size	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0008734	HP:0008734	Decreased testicular size	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.	37
HP:0008734	HP:0008734	Decreased testicular size	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0008734	HP:0008734	Decreased testicular size	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	21
HP:0008734	HP:0008734	Decreased testicular size	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	.	8
HP:0008734	HP:0008734	Decreased testicular size	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	8
HP:0008734	HP:0008734	Decreased testicular size	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0008734	HP:0008734	Decreased testicular size	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0008734	HP:0008734	Decreased testicular size	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0008734	HP:0008734	Decreased testicular size	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0008734	HP:0008734	Decreased testicular size	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0008734	HP:0008734	Decreased testicular size	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0008734	HP:0008734	Decreased testicular size	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0008734	HP:0008734	Decreased testicular size	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0008734	HP:0008734	Decreased testicular size	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0008734	HP:0008734	Decreased testicular size	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.	14
HP:0008734	HP:0008734	Decreased testicular size	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0008734	HP:0008734	Decreased testicular size	0	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0008734	HP:0008734	Decreased testicular size	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0008734	HP:0008734	Decreased testicular size	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0008734	HP:0008734	Decreased testicular size	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0008734	HP:0008734	Decreased testicular size	0	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male	.	67
HP:0008734	HP:0008734	Decreased testicular size	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0008734	HP:0008734	Decreased testicular size	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0008734	HP:0008734	Decreased testicular size	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0008734	HP:0008734	Decreased testicular size	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0008734	HP:0008734	Decreased testicular size	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0008734	HP:0008734	Decreased testicular size	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0008734	HP:0008734	Decreased testicular size	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0008734	HP:0008734	Decreased testicular size	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0008734	HP:0008734	Decreased testicular size	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10	.	4
HP:0008734	HP:0008734	Decreased testicular size	0	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0008734	HP:0008734	Decreased testicular size	0	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008734	HP:0008734	Decreased testicular size	0	NANOS1 CL E G H	340719	23044	ORPHA:399808	Male infertility with teratozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008734	HP:0008734	Decreased testicular size	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0008734	HP:0008734	Decreased testicular size	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0008734	HP:0008734	Decreased testicular size	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0008734	HP:0008734	Decreased testicular size	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	NR0B1 CL E G H	190	7960	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	48
HP:0008734	HP:0008734	Decreased testicular size	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0008734	HP:0008734	Decreased testicular size	0	NR5A1 CL E G H	2516	7983	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	38
HP:0008734	HP:0008734	Decreased testicular size	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0008734	HP:0008734	Decreased testicular size	0	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	38
HP:0008734	HP:0008734	Decreased testicular size	0	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	.	6
HP:0008734	HP:0008734	Decreased testicular size	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0008734	HP:0008734	Decreased testicular size	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0008734	HP:0008734	Decreased testicular size	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0008734	HP:0008734	Decreased testicular size	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0008734	HP:0008734	Decreased testicular size	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0008734	HP:0008734	Decreased testicular size	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0008734	HP:0008734	Decreased testicular size	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0008734	HP:0008734	Decreased testicular size	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040282 - Frequent	23
HP:0008734	HP:0008734	Decreased testicular size	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.	37
HP:0008734	HP:0008734	Decreased testicular size	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0008734	HP:0008734	Decreased testicular size	0	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0008734	HP:0008734	Decreased testicular size	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent	2
HP:0008734	HP:0008734	Decreased testicular size	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0008734	HP:0008734	Decreased testicular size	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0008734	HP:0008734	Decreased testicular size	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent	28
HP:0008734	HP:0008734	Decreased testicular size	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	.	9
HP:0008734	HP:0008734	Decreased testicular size	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	9
HP:0008734	HP:0008734	Decreased testicular size	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0008734	HP:0008734	Decreased testicular size	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0008734	HP:0008734	Decreased testicular size	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0008734	HP:0008734	Decreased testicular size	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0008734	HP:0008734	Decreased testicular size	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0008734	HP:0008734	Decreased testicular size	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0008734	HP:0008734	Decreased testicular size	0	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0008734	HP:0008734	Decreased testicular size	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0008734	HP:0008734	Decreased testicular size	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0008734	HP:0008734	Decreased testicular size	0	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0008734	HP:0008734	Decreased testicular 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:0008734	HP:0008734	Decreased testicular size	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0008734	HP:0008734	Decreased testicular size	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0008734	HP:0008734	Decreased testicular size	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent	34
HP:0008734	HP:0008734	Decreased testicular size	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	.	14
HP:0008734	HP:0008734	Decreased testicular size	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	14
HP:0008734	HP:0008734	Decreased testicular size	0	SEMA3E CL E G H	9723	10727	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	16
HP:0008734	HP:0008734	Decreased testicular size	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0008734	HP:0008734	Decreased testicular size	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040281 - Very frequent	68
HP:0008734	HP:0008734	Decreased testicular size	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0008734	HP:0008734	Decreased testicular size	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0008734	HP:0008734	Decreased testicular size	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0008734	HP:0008734	Decreased testicular size	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0008734	HP:0008734	Decreased testicular size	0	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0008734	HP:0008734	Decreased testicular size	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	61
HP:0008734	HP:0008734	Decreased testicular size	0	SOX3 CL E G H	6658	11199	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	24
HP:0008734	HP:0008734	Decreased testicular size	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0008734	HP:0008734	Decreased testicular size	0	SOX9 CL E G H	6662	11204	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	109
HP:0008734	HP:0008734	Decreased testicular size	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0008734	HP:0008734	Decreased testicular size	0	SPRY4 CL E G H	81848	15533	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	5
HP:0008734	HP:0008734	Decreased testicular size	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	5
HP:0008734	HP:0008734	Decreased testicular size	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0008734	HP:0008734	Decreased testicular size	0	SRA1 CL E G H	10011	11281	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.
HP:0008734	HP:0008734	Decreased testicular size	0	SRY CL E G H	6736	11311	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	23
HP:0008734	HP:0008734	Decreased testicular size	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0008734	HP:0008734	Decreased testicular size	0	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0008734	HP:0008734	Decreased testicular size	0	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	12
HP:0008734	HP:0008734	Decreased testicular size	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0008734	HP:0008734	Decreased testicular size	0	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia	.	34
HP:0008734	HP:0008734	Decreased testicular size	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	34
HP:0008734	HP:0008734	Decreased testicular size	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0008734	HP:0008734	Decreased testicular size	0	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008734	HP:0008734	Decreased testicular size	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0008734	HP:0008734	Decreased testicular size	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0008734	HP:0008734	Decreased testicular size	0	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	5
HP:0008734	HP:0008734	Decreased testicular size	0	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008734	HP:0008734	Decreased testicular size	0	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008734	HP:0008734	Decreased testicular size	0	TEX15 CL E G H	56154	11738	OMIM:617960	Spermatogenic failure 25	.	1
HP:0008734	HP:0008734	Decreased testicular size	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0008734	HP:0008734	Decreased testicular size	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0008734	HP:0008734	Decreased testicular size	0	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0008734	HP:0008734	Decreased testicular size	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0008734	HP:0008734	Decreased testicular size	0	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent	2
HP:0008734	HP:0008734	Decreased testicular size	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008734	HP:0008734	Decreased testicular size	0	WDR11 CL E G H	55717	13831	OMIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia	HP:0040283 - Occasional	10
HP:0008734	HP:0008734	Decreased testicular size	0	WDR11 CL E G H	55717	13831	OMIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	.	10
HP:0008734	HP:0008734	Decreased testicular size	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040281 - Very frequent	10
HP:0008734	HP:0008734	Decreased testicular size	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0008734	HP:0008734	Decreased testicular size	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0008734	HP:0008734	Decreased testicular size	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0008734	HP:0008734	Decreased testicular size	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0008734	HP:0008734	Decreased testicular size	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86
HP:0008734	HP:0008734	Decreased testicular size	0	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	125
HP:0008734	HP:0008734	Decreased testicular size	0	XRCC2 CL E G H	7516	12829	OMIM:619145	SPERMATOGENIC FAILURE 50; SPGF50		125
HP:0008734	HP:0008734	Decreased testicular size	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0008734	HP:0008734	Decreased testicular size	0	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0008734	HP:0008734	Decreased testicular size	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF

Genes (148) :ALMS1 ANOS1 ARL6 ARX ATRX AXL B4GAT1 BBS1 BRCC3 C14ORF39 CCDC141 CCDC28B CCDC34 CDKN1C CFTR CHD7 CHRM3 CTDP1 CUL4B CUL7 CYB5A CYP11A1 CYP11B1 CYP17A1 DAZ1 DAZ2 DAZ3 DAZ4 DCAF17 DCC DDB2 DDX3Y DHX37 DKC1 DMRT3 DMXL2 DNAJC19 DUSP6 ERCC2 ERCC3 ERCC4 ERCC5 FAM111A FANCM FBN1 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 FOXA2 FSHB GATA4 GBA2 GLI2 GLI3 GNRH1 GNRHR HDAC8 HESX1 HS6ST1 HSD3B2 HSPG2 IL17RD KCNJ6 KDM5C KISS1 KISS1R KLHL10 LEP LEPR LHCGR LHX4 MAGEL2 MAP3K1 MAP3K7 MBTPS2 MCM8 MEIOB NAA10 NANOS1 NDN NDNF NR0B1 NR5A1 NSMF OCA2 OGT OTX2 PHF6 PHF8 PHGDH PMM2 PNLDC1 POLA1 POU1F1 PQBP1 PROK2 PROKR2 PROP1 RAB18 RBMY1A1 RLIM RPL10 RPL10L RSPO1 SAMD9 SATB2 SEMA3A SEMA3E SIM1 SLC29A3 SLC39A4 SNRPN SOHLH1 SOX10 SOX3 SOX9 SPRY4 SRA1 SRY SYCE1 SYCP3 TAC3 TACR3 TAF4B TBC1D20 TCTN3 TDRD9 TEX11 TEX14 TEX15 THOC2 TOGARAM1 TSPY1 TYMS USP9Y VAMP7 WDR11 WT1 WWOX XPA XPC XRCC2 ZFPM2 ZMYND15 ZPR1

Diseases (100) :ORPHA:64 OMIM:308700 ORPHA:478 OMIM:209900 OMIM:300215 OMIM:309580 OMIM:146110 OMIM:615287 ORPHA:280679 ORPHA:399805 ORPHA:436144 ORPHA:432 ORPHA:2970 OMIM:604168 OMIM:300354 ORPHA:85293 OMIM:273750 ORPHA:90796 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:1646 ORPHA:3464 OMIM:241080 ORPHA:910 ORPHA:251510 ORPHA:983 OMIM:305000 ORPHA:453533 OMIM:610198 ORPHA:93325 OMIM:618086 ORPHA:284979 OMIM:616030 ORPHA:261483 ORPHA:95494 OMIM:229070 ORPHA:52901 ORPHA:320391 ORPHA:672 OMIM:146510 OMIM:614841 OMIM:300882 OMIM:614880 ORPHA:90791 ORPHA:800 OMIM:255800 ORPHA:435628 OMIM:300534 ORPHA:85279 OMIM:614837 OMIM:614962 ORPHA:66628 ORPHA:179494 OMIM:176410 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:157800 ORPHA:85284 OMIM:612885 OMIM:300855 ORPHA:399808 ORPHA:393 OMIM:614838 OMIM:300997 ORPHA:127 ORPHA:85287 OMIM:601815 ORPHA:79318 OMIM:619528 ORPHA:163976 OMIM:309500 ORPHA:93950 OMIM:610628 ORPHA:90695 OMIM:614222 OMIM:300978 OMIM:300998 ORPHA:459070 OMIM:619689 OMIM:610644 OMIM:617053 ORPHA:251019 ORPHA:251028 OMIM:614897 ORPHA:398079 ORPHA:168569 OMIM:201100 OMIM:614840 OMIM:615663 ORPHA:2753 OMIM:617960 ORPHA:457240 OMIM:619185 OMIM:620040 OMIM:614858 OMIM:619145 OMIM:619321

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

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