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:
Abnormal penis morphology (HP:0000036)

Grandparent Node:
Abnormality of the urethra (HP:0000795)

Parent Node:
Displacement of the urethral meatus (HP:0100627)

..Starting node
..Epispadias (HP:0000039)

Term ID:

Name:

Epispadias

Synonym:

Definition:

Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.

Comments:

Reference:

HP:0000039

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anteriorly displaced urethral meatus (HP:0008648)

Hypospadias (HP:0000047)

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:0000039	HP:0000039	Epispadias	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0000039	HP:0000039	Epispadias	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0000039	HP:0000039	Epispadias	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000039	HP:0000039	Epispadias	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0000039	HP:0000039	Epispadias	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0000039	HP:0000039	Epispadias	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0000039	HP:0000039	Epispadias	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0000039	HP:0000039	Epispadias	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0000039	HP:0000039	Epispadias	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0000039	HP:0000039	Epispadias	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0000039	HP:0000039	Epispadias	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0000039	HP:0000039	Epispadias	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0000039	HP:0000039	Epispadias	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0000039	HP:0000039	Epispadias	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0000039	HP:0000039	Epispadias	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000039	HP:0000039	Epispadias	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0000039	HP:0000039	Epispadias	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0000039	HP:0000039	Epispadias	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0000039	HP:0000039	Epispadias	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0000039	HP:0000039	Epispadias	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040283 - Occasional	196
HP:0000039	HP:0000039	Epispadias	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0000039	HP:0000039	Epispadias	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0000039	HP:0000039	Epispadias	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0000039	HP:0000039	Epispadias	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0000039	HP:0000039	Epispadias	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0000039	HP:0000039	Epispadias	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0000039	HP:0000039	Epispadias	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0000039	HP:0000039	Epispadias	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0000039	HP:0000039	Epispadias	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0000039	HP:0000039	Epispadias	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0000039	HP:0000039	Epispadias	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0000039	HP:0000039	Epispadias	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98

Genes (29) :ANKRD11 C2CD3 CDC45 CDC6 CDT1 COX7B DVL1 DVL3 DYNC2LI1 EVC EVC2 FZD2 GLI1 GMNN HCCS ISL1 KRAS NDUFB11 ORC1 ORC4 ORC6 PIEZO2 PRKACA PRKACB PTDSS1 SMAD4 SRY TP63 WNT5A

Diseases (14) :OMIM:148050 ORPHA:434179 OMIM:615948 ORPHA:2554 ORPHA:2556 ORPHA:3107 ORPHA:289 OMIM:225500 ORPHA:93930 ORPHA:3339 ORPHA:2461 ORPHA:2658 ORPHA:2588 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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