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:
Displacement of the urethral meatus (HP:0100627)

Parent Node:
Hypospadias (HP:0000047)

..Starting node
..Midshaft hypospadias (HP:0012854)

Term ID:

12854

Name:

Midshaft hypospadias

Synonym:

Definition:

Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.

Comments:

Reference:

HP:0012854

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coronal hypospadias (HP:0008743)

Glandular hypospadias (HP:0000807)

Penile hypospadias (HP:0003244)

Penoscrotal hypospadias (HP:0000808)

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:0012854	HP:0012854	Midshaft hypospadias	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040283 - Occasional	31
HP:0012854	HP:0012854	Midshaft hypospadias	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040283 - Occasional	31

Genes (1) :CYP11A1

Diseases (2) :ORPHA:168558 ORPHA:289548

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