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
..Glandular hypospadias (HP:0000807)

Term ID:

807

Name:

Glandular hypospadias

Synonym:

Definition:

Comments:

Reference:

HP:0000807

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coronal hypospadias (HP:0008743)

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:0000807	HP:0000807	Glandular hypospadias	0	HOXA13 CL E G H	3209	5102	OMIM:176305	Preaxial deficiency, postaxial polydactyly, and hypospadias	.	11
HP:0000807	HP:0000807	Glandular hypospadias	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	5
HP:0000807	HP:0000807	Glandular hypospadias	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040282 - Frequent	69
HP:0000807	HP:0000807	Glandular hypospadias	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent	185
HP:0000807	HP:0000807	Glandular hypospadias	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0000807	HP:0000807	Glandular hypospadias	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0000807	HP:0000807	Glandular hypospadias	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138

Genes (7) :HOXA13 MAMLD1 MKKS MTM1 MYMK MYMX SRCAP

Diseases (5) :OMIM:176305 ORPHA:456328 ORPHA:2473 ORPHA:1358 OMIM:136140

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