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

..Starting node
..Male urethral meatus stenosis (HP:0032077)

Term ID:

32077

Name:

Male urethral meatus stenosis

Synonym:

Meatal stenosis; Meatus stenosis

Definition:

An abnormal narrowing of the urethral opening (meatus) of the penis.

Comments:

Reference:

HP:0032077

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032077	HP:0032077	Male urethral meatus stenosis	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0032077	HP:0032077	Male urethral meatus stenosis	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0032077	HP:0032077	Male urethral meatus stenosis	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0032077	HP:0032077	Male urethral meatus stenosis	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136

Genes (4) :MED25 PTPRF SIN3A SPRED1

Diseases (4) :ORPHA:464738 OMIM:616001 OMIM:613406 ORPHA:137605

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