Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Long penis (HP:0000040)

Term ID:

Name:

Long penis

Synonym:

Enlarged penis; Long penis

Definition:

Penile length more than 2 SD above the mean for age.

Comments:

Reference:

HP:0000040

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)

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)

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:0000040	HP:0000040	Long penis	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0000040	HP:0000040	Long penis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0000040	HP:0000040	Long penis	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0000040	HP:0000040	Long penis	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0000040	HP:0000040	Long penis	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0000040	HP:0000040	Long penis	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000040	HP:0000040	Long penis	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.	172
HP:0000040	HP:0000040	Long penis	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0000040	HP:0000040	Long penis	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0000040	HP:0000040	Long penis	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent	229
HP:0000040	HP:0000040	Long penis	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0000040	HP:0000040	Long penis	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0000040	HP:0000040	Long penis	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0000040	HP:0000040	Long penis	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040282 - Frequent	67
HP:0000040	HP:0000040	Long penis	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000040	HP:0000040	Long penis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948

Genes (11) :AIP AKT1 CYP11B1 ESCO2 FGFR1 GPR101 INSR KCNH1 LHCGR POLR3A PTEN

Diseases (14) :ORPHA:963 ORPHA:744 OMIM:202010 ORPHA:90795 ORPHA:3103 OMIM:268300 OMIM:190440 OMIM:246200 ORPHA:508 OMIM:262190 ORPHA:769 OMIM:135500 ORPHA:3000 OMIM:264090

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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