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:
Ambiguous genitalia (HP:0000062)

..Starting node
..True hermaphroditism (HP:0010459)

Term ID:

10459

Name:

True hermaphroditism

Synonym:

Testicular and ovarian tissue present

Definition:

The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.

Comments:

Reference:

HP:0010459

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ambiguous genitalia, female (HP:0000061)

Ambiguous genitalia, male (HP:0000033)

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

Ovotestis (HP:0012861)

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:0010459	HP:0010459	True hermaphroditism	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0010459	HP:0010459	True hermaphroditism	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0010459	HP:0010459	True hermaphroditism	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0010459	HP:0010459	True hermaphroditism	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0010459	HP:0010459	True hermaphroditism	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0010459	HP:0010459	True hermaphroditism	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0010459	HP:0010459	True hermaphroditism	0	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	38
HP:0010459	HP:0010459	True hermaphroditism	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0010459	HP:0010459	True hermaphroditism	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0010459	HP:0010459	True hermaphroditism	0	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	109
HP:0010459	HP:0010459	True hermaphroditism	0	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	23
HP:0010459	HP:0010459	True hermaphroditism	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0010459	HP:0010459	True hermaphroditism	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0010459	HP:0010459	True hermaphroditism	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0010459	HP:0010459	True hermaphroditism	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0010459	HP:0010459	True hermaphroditism	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0010459	HP:0010459	True hermaphroditism	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0010459	HP:0010459	True hermaphroditism	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0010459	HP:0010459	True hermaphroditism	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0010459	HP:0010459	True hermaphroditism	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0010459	HP:0010459	True hermaphroditism	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0010459	HP:0010459	True hermaphroditism	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177

Genes (21) :B9D1 B9D2 CC2D2A CEP290 CSPP1 MKS1 NR5A1 RPGRIP1 RPGRIP1L SOX9 SRY TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 WT1

Diseases (4) :ORPHA:564 ORPHA:2138 OMIM:400045 OMIM:194080

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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