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
..Retractile testis (HP:0012646)

Term ID:

12646

Name:

Retractile testis

Synonym:

Retractile testicle

Definition:

A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.

Comments:

Reference:

HP:0012646

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)

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)

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:0012646	HP:0012646	Retractile testis	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent	2
HP:0012646	HP:0012646	Retractile testis	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16

Genes (2) :POLA1 TBCD

Diseases (2) :ORPHA:163976 OMIM:617193

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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