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
..Obstructive azoospermia (HP:0011962)

Term ID:

11962

Name:

Obstructive azoospermia

Synonym:

Definition:

Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.

Comments:

Reference:

HP:0011962

Genes and Diseases:

Child Nodes:

Sister Nodes:

Non-obstructive azoospermia (HP:0011961)

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:0011962	HP:0011962	Obstructive azoospermia	0	ADGRG2 CL E G H	10149	4516	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	5
HP:0011962	HP:0011962	Obstructive azoospermia	0	C14ORF39 CL E G H	317761	19849	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0011962	HP:0011962	Obstructive azoospermia	0	CCDC34 CL E G H	91057	25079	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0011962	HP:0011962	Obstructive azoospermia	0	CFTR CL E G H	1080	1884	ORPHA:48	Congenital bilateral absence of vas deferens	HP:0040281 - Very frequent	1371
HP:0011962	HP:0011962	Obstructive azoospermia	0	CFTR CL E G H	1080	1884	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	1371
HP:0011962	HP:0011962	Obstructive azoospermia	0	CLDN2 CL E G H	9075	2041	OMIM:301060	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS; OAZON		2
HP:0011962	HP:0011962	Obstructive azoospermia	0	FANCM CL E G H	57697	23168	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	107
HP:0011962	HP:0011962	Obstructive azoospermia	0	KLHL10 CL E G H	317719	18829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	3
HP:0011962	HP:0011962	Obstructive azoospermia	0	MEIOB CL E G H	254528	28569	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0011962	HP:0011962	Obstructive azoospermia	0	NANOS1 CL E G H	340719	23044	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	4
HP:0011962	HP:0011962	Obstructive azoospermia	0	NR5A1 CL E G H	2516	7983	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	38
HP:0011962	HP:0011962	Obstructive azoospermia	0	PNLDC1 CL E G H	154197	21185	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0011962	HP:0011962	Obstructive azoospermia	0	SOHLH1 CL E G H	402381	27845	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	3
HP:0011962	HP:0011962	Obstructive azoospermia	0	SYCE1 CL E G H	93426	28852	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	4
HP:0011962	HP:0011962	Obstructive azoospermia	0	SYCP3 CL E G H	50511	18130	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	12
HP:0011962	HP:0011962	Obstructive azoospermia	0	TAF4B CL E G H	6875	11538	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	1
HP:0011962	HP:0011962	Obstructive azoospermia	0	TDRD9 CL E G H	122402	20122	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent
HP:0011962	HP:0011962	Obstructive azoospermia	0	TEX11 CL E G H	56159	11733	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	5
HP:0011962	HP:0011962	Obstructive azoospermia	0	TEX14 CL E G H	56155	11737	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	1
HP:0011962	HP:0011962	Obstructive azoospermia	0	TEX15 CL E G H	56154	11738	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	1
HP:0011962	HP:0011962	Obstructive azoospermia	0	XRCC2 CL E G H	7516	12829	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	125
HP:0011962	HP:0011962	Obstructive azoospermia	0	ZMYND15 CL E G H	84225	20997	ORPHA:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0040282 - Frequent	1

Genes (21) :ADGRG2 C14ORF39 CCDC34 CFTR CLDN2 FANCM KLHL10 MEIOB NANOS1 NR5A1 PNLDC1 SOHLH1 SYCE1 SYCP3 TAF4B TDRD9 TEX11 TEX14 TEX15 XRCC2 ZMYND15

Diseases (3) :ORPHA:48 ORPHA:399805 OMIM:301060

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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