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
..Scrotal hyperpigmentation (HP:0012855)

Term ID:

12855

Name:

Scrotal hyperpigmentation

Synonym:

Hyperpigmentation of the scrotum; Hyperpigmented scrotum; Increased pigmentation in scrotum

Definition:

Increased pigmentation (skin color) of the scrotum.

Comments:

Reference:

HP:0012855

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal scrotal rugation (HP:0012856)

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 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:0012855	HP:0012855	Scrotal hyperpigmentation	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0012855	HP:0012855	Scrotal hyperpigmentation	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0012855	HP:0012855	Scrotal hyperpigmentation	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0012855	HP:0012855	Scrotal hyperpigmentation	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2

Genes (4) :KRT5 POFUT1 POGLUT1 PSENEN

Diseases (1) :ORPHA:79145

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