Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal external genitalia (HP:0000811)

Parent Node:
Abnormality of male external genitalia (HP:0000032)

Parent Node:
Ambiguous genitalia (HP:0000062)

..Starting node
..Ambiguous genitalia, male (HP:0000033)

Term ID:

Name:

Ambiguous genitalia, male

Synonym:

Ambiguous genitalia in males

Definition:

Ambiguous genitalia in an individual with XY genetic gender.

Comments:

Reference:

HP:0000033

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ambiguous genitalia, female (HP:0000061)

Gonadal tissue inappropriate for external genitalia or chromosomal sex (HP:0003248)

Ovotestis (HP:0012861)

True hermaphroditism (HP:0010459)

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:0000033	HP:0000033	Ambiguous genitalia, male	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040283 - Occasional	2
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040283 - Occasional	53
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	SRD5A2 CL E G H	6716	11285	ORPHA:753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	HP:0040281 - Very frequent	86
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	SRD5A2 CL E G H	6716	11285	OMIM:264600	Pseudovaginal perineoscrotal hypospadias	.	86
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.	1
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0000033	HP:0000033	Ambiguous genitalia, male	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040280 - Obligate	177

Genes (12) :CYB5A CYP11A1 CYP17A1 DHCR24 HSD3B2 MKS1 SC5D SRD5A2 SRY TBX15 TSPYL1 WT1

Diseases (15) :ORPHA:90796 ORPHA:168558 ORPHA:289548 ORPHA:90793 OMIM:602398 ORPHA:90791 OMIM:249000 OMIM:607330 ORPHA:753 OMIM:264600 ORPHA:1772 OMIM:260660 OMIM:608800 OMIM:194080 ORPHA:347

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

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