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
..Coronal hypospadias (HP:0008743)

Term ID:

8743

Name:

Coronal hypospadias

Synonym:

Subcoronal hypospadias

Definition:

A mild form of hypospadias in which the urethra opens just under the corona glandis.

Comments:

Reference:

HP:0008743

Genes and Diseases:

Child Nodes:

Sister Nodes:

Glandular hypospadias (HP:0000807)

Midshaft hypospadias (HP:0012854)

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:0008743	HP:0008743	Coronal hypospadias	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0008743	HP:0008743	Coronal hypospadias	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0008743	HP:0008743	Coronal hypospadias	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0008743	HP:0008743	Coronal hypospadias	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0008743	HP:0008743	Coronal hypospadias	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040281 - Very frequent	28

Genes (5) :FGF10 FGFR2 FGFR3 PAICS TBX22

Diseases (3) :OMIM:149730 OMIM:619859 ORPHA:921

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