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 penis morphology (HP:0000036)

..Starting node
..Penile freckling (HP:0031447)

Term ID:

31447

Name:

Penile freckling

Synonym:

Definition:

Multiple pigmented macules located on the skin of the penis.

Comments:

Reference:

HP:0031447

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal preputium morphology (HP:0100587)

Abnormality of corpus cavernosum (HP:0100623)

Absent penis (HP:0030261)

Bifid penis (HP:0100599)

Chordee (HP:0000041)

Displacement of the urethral meatus (HP:0100627)

Erectile dysfunction (HP:0100639)

Hypoplasia of penis (HP:0008736)

Long penis (HP:0000040)

Narrow penis (HP:0030262)

Neoplasm of the penis (HP:0100850)

Partial development of the penile shaft (HP:0008708)

Penoscrotal transposition (HP:0100600)

Torsion of the penis (HP:0030263)

Webbed penis (HP:0030264)

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:0031447	HP:0031447	Penile freckling	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0031447	HP:0031447	Penile freckling	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0031447	HP:0031447	Penile freckling	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0031447	HP:0031447	Penile freckling	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.