Human Phenotype Ontology 
Grandparent Node:
expand
Displacement of the urethral meatus (HP:0100627)help
Parent Node:
expand
Hypospadias (HP:0000047)help
..Starting node
..expand
Penile hypospadias (HP:0003244)help
Term ID: 3244
Name: Penile hypospadias
Synonym:
Definition: Location of the urethral opening on the inferior aspect of the penis.
Comments:
Reference: HP:0003244
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCoronal hypospadias (HP:0008743) help
..expandGlandular hypospadias (HP:0000807) help
..expandMidshaft hypospadias (HP:0012854) help
..expandPenoscrotal hypospadias (HP:0000808) help
..expandPerineal hypospadias (HP:0000051) help
..expandScrotal hypospadias (HP:0012853) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003244HP:0003244Penile hypospadias0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0003244HP:0003244Penile hypospadias0HNRNPH1 CL E G H31875041OMIM:620083
HP:0003244HP:0003244Penile hypospadias0MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent5
HP:0003244HP:0003244Penile hypospadias0MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent185


Genes (4) :EPG5 HNRNPH1 MAMLD1 MTM1

Diseases (3) :OMIM:242840 OMIM:620083 ORPHA:456328
 

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