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
..Webbed penis (HP:0030264)

Term ID:

30264

Name:

Webbed penis

Synonym:

Webbed penis

Definition:

Ventral skinfold extending from penis to scrotum.

Comments:

Reference:

HP:0030264

Genes and Diseases:

Child Nodes:

........

Wide penis (HP:0030265)

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)

Penile freckling (HP:0031447)

Penoscrotal transposition (HP:0100600)

Torsion of the penis (HP:0030263)

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:0030264	HP:0030264	Webbed penis	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0030264	HP:0030264	Webbed penis	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0030264	HP:0030264	Webbed penis	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0030264	HP:0030264	Webbed penis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0030264	HP:0030264	Webbed penis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0030264	HP:0030265	Wide penis	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040283 - Occasional	95
HP:0030264	HP:0030265	Wide penis	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040283 - Occasional	5
HP:0030264	HP:0030265	Wide penis	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138

Genes (4) :AIP GPR101 POLR3A ZEB2

Diseases (4) :ORPHA:963 ORPHA:3455 ORPHA:261552 ORPHA:261537

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