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:
Urethral obstruction (HP:0000796)

Parent Node:
Urethral stenosis (HP:0008661)

..Starting node
..Urethral stricture (HP:0012227)

Term ID:

12227

Name:

Urethral stricture

Synonym:

Definition:

Narrowing of the urethra associated with inflammation or scar tissue.

Comments:

Reference:

HP:0012227

Genes and Diseases:

Child Nodes:

........

Fossa navicularis urethral stricture (HP:0025413)

........

Pendulous urethral stricture (HP:0025414)

........

Bulbar urethral stricture (HP:0025415)

Sister Nodes:

Urethral sphincter sclerosis (HP:0008664)

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:0012227	HP:0012227	Urethral stricture	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0012227	HP:0012227	Urethral stricture	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0012227	HP:0012227	Urethral stricture	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0012227	HP:0012227	Urethral stricture	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0012227	HP:0012227	Urethral stricture	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0012227	HP:0012227	Urethral stricture	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	79
HP:0012227	HP:0012227	Urethral stricture	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent	124
HP:0012227	HP:0012227	Urethral stricture	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0012227	HP:0012227	Urethral stricture	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0012227	HP:0012227	Urethral stricture	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0012227	HP:0012227	Urethral stricture	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0012227	HP:0012227	Urethral stricture	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0012227	HP:0012227	Urethral stricture	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0012227	HP:0012227	Urethral stricture	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0012227	HP:0012227	Urethral stricture	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0012227	HP:0012227	Urethral stricture	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0012227	HP:0012227	Urethral stricture	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0012227	HP:0012227	Urethral stricture	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0012227	HP:0025413	Fossa navicularis urethral stricture	1	CL E G H
HP:0012227	HP:0025415	Bulbar urethral stricture	1	CL E G H
HP:0012227	HP:0025414	Pendulous urethral stricture	1	CL E G H

Genes (17) :CDC45 COL7A1 FERMT1 FLT4 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2 MKKS MMP1 PKP1 PLEC POLA1 TERT TINF2 ZMYM2

Diseases (14) :OMIM:617063 ORPHA:79408 ORPHA:79409 ORPHA:2908 OMIM:153100 ORPHA:79403 ORPHA:79404 ORPHA:2473 ORPHA:158668 OMIM:226670 OMIM:301220 OMIM:613989 OMIM:613990 OMIM:619522

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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