Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Aplasia/Hypoplasia of the ovary (HP:0010462)

Parent Node:
Hypoplasia of the ovary (HP:0008724)

..Starting node
..Streak ovary (HP:0010464)

Term ID:

10464

Name:

Streak ovary

Synonym:

Definition:

A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.

Comments:

Reference:

HP:0010464

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0010464	HP:0010464	Streak ovary	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	16
HP:0010464	HP:0010464	Streak ovary	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0010464	HP:0010464	Streak ovary	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0010464	HP:0010464	Streak ovary	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0010464	HP:0010464	Streak ovary	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0010464	HP:0010464	Streak ovary	0	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7	HP:0040282 - Frequent	21
HP:0010464	HP:0010464	Streak ovary	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010464	HP:0010464	Streak ovary	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0010464	HP:0010464	Streak ovary	0	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0010464	HP:0010464	Streak ovary	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0010464	HP:0010464	Streak ovary	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0010464	HP:0010464	Streak ovary	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	50
HP:0010464	HP:0010464	Streak ovary	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0010464	HP:0010464	Streak ovary	0	HARS2 CL E G H	23438	4817	OMIM:614926	PERRAULT SYNDROME 2; PRLTS2		29
HP:0010464	HP:0010464	Streak ovary	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0010464	HP:0010464	Streak ovary	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	25
HP:0010464	HP:0010464	Streak ovary	0	NOBOX CL E G H	135935	22448	OMIM:611548	Premature ovarian failure 5		40
HP:0010464	HP:0010464	Streak ovary	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0010464	HP:0010464	Streak ovary	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	38
HP:0010464	HP:0010464	Streak ovary	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0010464	HP:0010464	Streak ovary	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	5
HP:0010464	HP:0010464	Streak ovary	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0010464	HP:0010464	Streak ovary	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0010464	HP:0010464	Streak ovary	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010464	HP:0010464	Streak ovary	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0010464	HP:0010464	Streak ovary	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0010464	HP:0010464	Streak ovary	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0010464	HP:0010464	Streak ovary	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0010464	HP:0010464	Streak ovary	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0010464	HP:0010464	Streak ovary	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0010464	HP:0010464	Streak ovary	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0010464	HP:0010464	Streak ovary	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0010464	HP:0010464	Streak ovary	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0010464	HP:0010464	Streak ovary	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040282 - Frequent	177
HP:0010464	HP:0010464	Streak ovary	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0010464	HP:0010464	Streak ovary	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0010464	HP:0010464	Streak ovary	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0010464	HP:0010464	Streak ovary	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0010464	HP:0010464	Streak ovary	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10

Genes (32) :BMP15 BNC1 DCAF17 DHH DHX37 DMRT3 ERAL1 FIGLA FOXL2 FSHR GATA4 HARS2 MAP3K1 MRPS22 NOBOX NR0B1 NR5A1 NUP107 PAX6 POLR3H PPP1R12A PSMC3IP SETBP1 SOX9 SPIDR SRY STAG3 VAMP7 WT1 WWOX ZFPM2 ZSWIM7

Diseases (18) :ORPHA:243 OMIM:300510 ORPHA:3464 ORPHA:168563 OMIM:233420 ORPHA:251510 OMIM:617565 OMIM:612310 ORPHA:572333 OMIM:614926 OMIM:611548 OMIM:194072 OMIM:618820 ORPHA:798 ORPHA:1772 OMIM:615723 ORPHA:347 OMIM:619834

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen