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:
Abnormality of male external genitalia (HP:0000032)

Parent Node:
Abnormal testis morphology (HP:0000035)

..Starting node
..Testicular dysgenesis (HP:0008715)

Term ID:

8715

Name:

Testicular dysgenesis

Synonym:

Definition:

Comments:

Reference:

HP:0008715

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the Leydig cells (HP:0010789)

Abnormality of the testis size (HP:0045058)

Anorchism (HP:0030869)

Cryptorchidism (HP:0000028)

Dysplastic testes (HP:0008733)

Hydrocele testis (HP:0000034)

Intratesticular abscess (HP:0025038)

Monorchism (HP:0030868)

Orchitis (HP:0100796)

Primary testicular failure (HP:0008720)

Retractile testis (HP:0012646)

Supernumerary testes (HP:0010470)

Testicular atrophy (HP:0000029)

Testicular fibrosis (HP:0012860)

Testicular lipomatosis (HP:0025476)

Testicular microlithiasis (HP:0012215)

Testicular neoplasm (HP:0010788)

Testicular torsion (HP:0100813)

Vanishing testis (HP:0012870)

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:0008715	HP:0008715	Testicular dysgenesis	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related		166
HP:0008715	HP:0008715	Testicular dysgenesis	0	CBX2 CL E G H	84733	1552	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	3
HP:0008715	HP:0008715	Testicular dysgenesis	0	DHH CL E G H	50846	2865	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	21
HP:0008715	HP:0008715	Testicular dysgenesis	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0008715	HP:0008715	Testicular dysgenesis	0	DHX37 CL E G H	57647	17210	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008715	HP:0008715	Testicular dysgenesis	0	DMRT1 CL E G H	1761	2934	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008715	HP:0008715	Testicular dysgenesis	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	.	87
HP:0008715	HP:0008715	Testicular dysgenesis	0	MAP3K1 CL E G H	4214	6848	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0008715	HP:0008715	Testicular dysgenesis	0	NR0B1 CL E G H	190	7960	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0008715	HP:0008715	Testicular dysgenesis	0	NR5A1 CL E G H	2516	7983	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0008715	HP:0008715	Testicular dysgenesis	0	SOX9 CL E G H	6662	11204	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0008715	HP:0008715	Testicular dysgenesis	0	SRY CL E G H	6736	11311	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0008715	HP:0008715	Testicular dysgenesis	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.	1
HP:0008715	HP:0008715	Testicular dysgenesis	0	WT1 CL E G H	7490	12796	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	177

Genes (13) :ARX CBX2 DHH DHX37 DMRT1 GATA4 MAP3K1 NR0B1 NR5A1 SOX9 SRY TSPYL1 WT1

Diseases (5) :OMIM:300419 ORPHA:242 ORPHA:168563 OMIM:615542 OMIM:608800

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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