Human Phenotype Ontology

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

Grandparent Node:
Abnormal spermatogenesis (HP:0008669)

Parent Node:
Azoospermia (HP:0000027)

..Starting node
..Non-obstructive azoospermia (HP:0011961)

Term ID:

11961

Name:

Non-obstructive azoospermia

Synonym:

Testicular azoospermia

Definition:

Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.

Comments:

Reference:

HP:0011961

Genes and Diseases:

Child Nodes:

Sister Nodes:

Obstructive azoospermia (HP:0011962)

Pretesticular azoospermia (HP:0011963)

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:0011961	HP:0011961	Non-obstructive azoospermia	0	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1371
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	DAZ1 CL E G H	1617	2682	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	DAZ2 CL E G H	57055	15964	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	DAZ3 CL E G H	57054	15965	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	DAZ4 CL E G H	57135	15966	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	DDX3Y CL E G H	8653	2699	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	107
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0011961	HP:0011961	Non-obstructive azoospermia	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:0011961	HP:0011961	Non-obstructive azoospermia	0	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	38
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	RBMY1A1 CL E G H	5940	9912	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	RNF212 CL E G H	285498	27729	OMIM:619673	SPERMATOGENIC FAILURE 62; SPGF62		4
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	3
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	STAG3 CL E G H	10734	11356	OMIM:619672	SPERMATOGENIC FAILURE 61; SPGF61		4
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	4
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	12
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	5
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	TSPY1 CL E G H	7258	12381	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	USP9Y CL E G H	8287	12633	ORPHA:1646	Partial chromosome Y deletion	HP:0040281 - Very frequent	2
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	125
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040281 - Very frequent	1
HP:0011961	HP:0011961	Non-obstructive azoospermia	0	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71

Genes (53) :C14ORF39 CCDC34 CFTR CHD7 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y DUSP6 FANCM FGF17 FGF8 FGFR1 GNRH1 GNRHR HS6ST1 KISS1 KISS1R KLHL10 MEIOB MOV10L1 MSH4 MSH5 NANOS1 NR5A1 NSMF PNLDC1 PROK2 PROKR2 RBMY1A1 RNF212 SHOC1 SOHLH1 SPRY4 STAG3 SYCE1 SYCP3 TAC3 TACR3 TAF4B TDRD9 TERB1 TERB2 TEX11 TEX14 TEX15 TSPY1 USP9Y WDR11 XRCC2 ZMYND15 ZSWIM7

Diseases (16) :ORPHA:399805 ORPHA:432 ORPHA:1646 OMIM:617706 OMIM:619878 OMIM:108420 OMIM:619937 ORPHA:399808 OMIM:619528 OMIM:619673 OMIM:619949 OMIM:619672 OMIM:616950 OMIM:619646 OMIM:619645 OMIM:619831

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

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