Human Phenotype Ontology

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:
Abnormality of male external genitalia (HP:0000032)

Parent Node:
Abnormal testis morphology (HP:0000035)

..Starting node
..Testicular torsion (HP:0100813)

Term ID:

100813

Name:

Testicular torsion

Synonym:

Spermatic cord torsion

Definition:

Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.

Comments:

Reference:

HP:0100813

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 dysgenesis (HP:0008715)

Testicular fibrosis (HP:0012860)

Testicular lipomatosis (HP:0025476)

Testicular microlithiasis (HP:0012215)

Testicular neoplasm (HP:0010788)

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:0100813	HP:0100813	Testicular torsion	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0100813	HP:0100813	Testicular torsion	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345

Genes (2) :B4GALT7 HSPG2

Diseases (2) :ORPHA:75496 ORPHA:800

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