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:
Displacement of the urethral meatus (HP:0100627)

Parent Node:
Hypospadias (HP:0000047)

..Starting node
..Perineal hypospadias (HP:0000051)

Term ID:

Name:

Perineal hypospadias

Synonym:

Definition:

Hypospadias with location of the urethral meatus in the perineal region.

Comments:

Reference:

HP:0000051

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coronal hypospadias (HP:0008743)

Glandular hypospadias (HP:0000807)

Midshaft hypospadias (HP:0012854)

Penile hypospadias (HP:0003244)

Penoscrotal hypospadias (HP:0000808)

Scrotal hypospadias (HP:0012853)

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:0000051	HP:0000051	Perineal hypospadias	0	AR CL E G H	367	644	OMIM:300633	Hypospadias 1, X-linked	.	125
HP:0000051	HP:0000051	Perineal hypospadias	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0000051	HP:0000051	Perineal hypospadias	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome		125
HP:0000051	HP:0000051	Perineal hypospadias	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional	25
HP:0000051	HP:0000051	Perineal hypospadias	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	.	87
HP:0000051	HP:0000051	Perineal hypospadias	0	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	HP:0040281 - Very frequent	86
HP:0000051	HP:0000051	Perineal hypospadias	0	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias	.	86

Genes (4) :AR DNAJC19 GATA4 SRD5A2

Diseases (7) :OMIM:300633 ORPHA:90797 OMIM:312300 ORPHA:66634 OMIM:615542 ORPHA:753 OMIM:264600

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