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:
Abnormality of the scrotum (HP:0000045)

..Starting node
..Abnormal scrotal rugation (HP:0012856)

Term ID:

12856

Name:

Abnormal scrotal rugation

Synonym:

Definition:

Anomaly of the folded ridges (wrinkles) of skin of the scrotum.

Comments:

Reference:

HP:0012856

Genes and Diseases:

Child Nodes:

........

Increased scrotal rugation (HP:0012857)

........

Decreased scrotal rugation (HP:0012858)

Sister Nodes:

Absent scrotum (HP:0008707)

Accessory scrotum (HP:0030274)

Bifid scrotum (HP:0000048)

Ectopic scrotum (HP:0030275)

Neoplasm of the scrotum (HP:0100849)

obsolete Small scrotum (HP:0030276)

Penoscrotal transposition (HP:0100600)

Prominent scrotal raphe (HP:0003246)

Scrotal hyperpigmentation (HP:0012855)

Scrotal pain (HP:0030155)

Shawl scrotum (HP:0000049)

Small scrotum (HP:0000046)

Vaginal hematocele (HP:0100674)

Vaginal hydrocele (HP:0100673)

Vaginal lymphocele (HP:0100676)

Vaginal pyocele (HP:0100675)

Varicocele (HP:0012871)

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:0012856	HP:0012856	Abnormal scrotal rugation	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0012856	HP:0012856	Abnormal scrotal rugation	0	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	38
HP:0012856	HP:0012856	Abnormal scrotal rugation	0	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	109
HP:0012856	HP:0012856	Abnormal scrotal rugation	0	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	23
HP:0012856	HP:0012856	Abnormal scrotal rugation	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0012856	HP:0012857	Increased scrotal rugation	1	CL E G H
HP:0012856	HP:0012858	Decreased scrotal rugation	1	CL E G H

Genes (5) :MINPP1 NR5A1 SOX9 SRY TOE1

Diseases (2) :ORPHA:284339 ORPHA:2138

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