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)

Grandparent Node:
Abnormality of the male genitalia (HP:0010461)

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

..Starting node
..Male pseudohermaphroditism (HP:0000037)

Term ID:

Name:

Male pseudohermaphroditism

Synonym:

Definition:

Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.

Comments:

Reference:

HP:0000037

Genes and Diseases:

Child Nodes:

........

Incomplete male pseudohermaphroditism (HP:0008656)

Sister Nodes:

Abnormal penis morphology (HP:0000036)

Abnormal testis morphology (HP:0000035)

Abnormality of the scrotum (HP:0000045)

Abnormality of the urethra (HP:0000795)

Ambiguous genitalia, male (HP:0000033)

Female external genitalia in individual with 46,XY karyotype (HP:0008730)

Neoplasm of the male external genitalia (HP:0100848)

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:0000037	HP:0000037	Male pseudohermaphroditism	0	AKR1C2 CL E G H	1646	385	OMIM:614279	46,xy sex reversal 8	.	7
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	AKR1C4 CL E G H	1109	387	OMIM:614279	46,xy sex reversal 8	.	3
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	AMH CL E G H	268	464	ORPHA:2856	Persistent Müllerian duct syndrome	HP:0040282 - Frequent	9
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	AMHR2 CL E G H	269	465	ORPHA:2856	Persistent Müllerian duct syndrome	HP:0040282 - Frequent	8
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	AR CL E G H	367	644	OMIM:312300	Reifenstein syndrome	.	125
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040281 - Very frequent	169
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	CBX2 CL E G H	84733	1552	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	3
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0000037	HP:0000037	Male pseudohermaphroditism	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:0000037	HP:0000037	Male pseudohermaphroditism	0	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.	2
HP:0000037	HP:0000037	Male pseudohermaphroditism	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:0000037	HP:0000037	Male pseudohermaphroditism	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:0000037	HP:0000037	Male pseudohermaphroditism	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:0000037	HP:0000037	Male pseudohermaphroditism	0	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	.	53
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	DHH CL E G H	50846	2865	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	21
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	DHX37 CL E G H	57647	17210	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome	HP:0040281 - Very frequent	2
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	DMRT1 CL E G H	1761	2934	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	HSD17B3 CL E G H	3293	5212	ORPHA:752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	HP:0040281 - Very frequent	31
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	HSD17B3 CL E G H	3293	5212	OMIM:264300	Pseudohermaphroditism, male, with gynecomastia	.	31
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	.	34
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	MAP3K1 CL E G H	4214	6848	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040283 - Occasional	17
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	NR0B1 CL E G H	190	7960	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	NR5A1 CL E G H	2516	7983	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	SOX9 CL E G H	6662	11204	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent	109
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	SRY CL E G H	6736	11311	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	WT1 CL E G H	7490	12796	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome	HP:0040281 - Very frequent	177
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040280 - Obligate	177
HP:0000037	HP:0000037	Male pseudohermaphroditism	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0000037	HP:0008656	Incomplete male pseudohermaphroditism	1	CL E G H

Genes (43) :AKR1C2 AKR1C4 AMH AMHR2 AR ATRX B9D1 B9D2 CBX2 CC2D2A CEP290 COX7B CSPP1 CYB5A CYP11A1 CYP17A1 DHH DHX37 DMRT1 HCCS HHAT HSD17B3 HSD3B2 MAP3K1 MKS1 MNX1 NDUFB11 NR0B1 NR5A1 RPGRIP1 RPGRIP1L SOX9 SRY TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 WT1

Diseases (27) :OMIM:614279 ORPHA:2856 OMIM:312300 ORPHA:847 ORPHA:564 ORPHA:242 ORPHA:2556 ORPHA:90796 OMIM:250790 ORPHA:168558 ORPHA:289548 OMIM:202110 ORPHA:983 ORPHA:1422 OMIM:600092 ORPHA:752 OMIM:264300 OMIM:201810 ORPHA:90791 ORPHA:1552 ORPHA:140 OMIM:400044 ORPHA:220 OMIM:194080 OMIM:136680 ORPHA:347 OMIM:608978

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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