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:
Abnormal external genitalia (HP:0000811)

Parent Node:
Ambiguous genitalia (HP:0000062)

..Starting node
..Ovotestis (HP:0012861)

Term ID:

12861

Name:

Ovotestis

Synonym:

Definition:

A gonad that contains both ovarian follicles and testicular tubular elements.

Comments:

Reference:

HP:0012861

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)

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:0012861	HP:0012861	Ovotestis	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0012861	HP:0012861	Ovotestis	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0012861	HP:0012861	Ovotestis	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0012861	HP:0012861	Ovotestis	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0012861	HP:0012861	Ovotestis	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0012861	HP:0012861	Ovotestis	0	SRY CL E G H	6736	11311	OMIM:400045	46XX sex reversal 1	.	23
HP:0012861	HP:0012861	Ovotestis	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4

Genes (6) :COX7B HCCS NDUFB11 RSPO1 SRY WNT4

Diseases (5) :OMIM:309801 OMIM:610644 ORPHA:1772 OMIM:400045 OMIM:611812

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