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:
Displacement of the urethral meatus (HP:0100627)

Parent Node:
Hypospadias (HP:0000047)

..Starting node
..Penoscrotal hypospadias (HP:0000808)

Term ID:

808

Name:

Penoscrotal hypospadias

Synonym:

Definition:

A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.

Comments:

Reference:

HP:0000808

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coronal hypospadias (HP:0008743)

Glandular hypospadias (HP:0000807)

Midshaft hypospadias (HP:0012854)

Penile hypospadias (HP:0003244)

Perineal hypospadias (HP:0000051)

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:0000808	HP:0000808	Penoscrotal hypospadias	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3	.	3
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	MAMLD1 CL E G H	10046	2568	OMIM:300758	Hypospadias 2, X-linked	.	5
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4	.	38
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	NR5A1 CL E G H	2516	7983	OMIM:612965	46XY sex reversal 3		38
HP:0000808	HP:0000808	Penoscrotal hypospadias	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23

Genes (10) :ARCN1 CDH11 COLEC10 DHCR7 HSD3B2 MAMLD1 MTM1 MYRF NR5A1 SRY

Diseases (12) :OMIM:617164 ORPHA:1299 OMIM:211380 OMIM:248340 OMIM:270400 ORPHA:90791 OMIM:300758 ORPHA:456328 OMIM:618280 OMIM:617480 OMIM:612965 ORPHA:1772

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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