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:
Abnormality of the ovary (HP:0000137)

Parent Node:
Abnormal ovarian physiology (HP:0031066)

..Starting node
..Premature ovarian insufficiency (HP:0008209)

Term ID:

8209

Name:

Premature ovarian insufficiency

Synonym:

Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause; Premature ovarian failure; Primary ovarian insufficiency

Definition:

Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.

Comments:

Reference:

HP:0008209

Genes and Diseases:

Child Nodes:

Sister Nodes:

Empty ovarian follicle (HP:0031067)

Female hypogonadism (HP:0000134)

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:0008209	HP:0008209	Premature ovarian insufficiency	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040284 - Very rare	25
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	16
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent	34
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent	342
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A	HP:0040280 - Obligate	6
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	FIGLA CL E G H	344018	24669	OMIM:612310	PREMATURE OVARIAN FAILURE 6; POF6		17
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	FMR1 CL E G H	2332	3775	OMIM:311360	Premature ovarian failure 1	.	30
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040283 - Occasional	30
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	FOXL2 CL E G H	668	1092	OMIM:608996	Premature ovarian failure 3		92
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	50
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional	23
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.	351
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	HFM1 CL E G H	164045	20193	OMIM:615724	Premature ovarian failure 9	.	6
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	HSF2BP CL E G H	11077	5226	OMIM:619245	PREMATURE OVARIAN FAILURE 19; POF19		1
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent	106
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent	61
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4	.	54
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.	3
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10		4
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	25
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	NOBOX CL E G H	135935	22448	OMIM:611548	Premature ovarian failure 5	.	40
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent	85
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent	157
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent	220
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	38
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	NR5A1 CL E G H	2516	7983	OMIM:612964	PREMATURE OVARIAN FAILURE 7; POF7		38
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	5
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B	HP:0040280 - Obligate	31
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B		45
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	2
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040283 - Occasional	43
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent	61
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate	2
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8	.	4
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent	6
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	HP:0040283 - Occasional	113
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent	95
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040280 - Obligate
HP:0008209	HP:0008209	Premature ovarian insufficiency	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10

Genes (69) :AARS2 AIRE ANAPC1 ANAPC7 B4GALNT1 BLM BMP15 BNC1 C14ORF39 CASP10 CEP164 CEP290 CHP1 COL25A1 DCAF17 DIAPH2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ERAL1 ERCC4 FAS FASLG FIGLA FMR1 FOXL2 FSHR GALK1 GALT GGPS1 HFM1 HSF2BP INVS IQCB1 LARS2 LMNA MCM3AP MCM8 MRPS22 NBN NOBOX NPHP1 NPHP3 NPHP4 NR5A1 NUP107 PMM2 POF1B POLG POLG2 POLR3H PRKCD PSMC3IP RASGRP1 RCBTB1 RIN2 SDCCAG8 SPIDR STAG3 THOC6 TRAF3IP1 TTI2 TWNK WDR19 XRCC2 ZFHX4 ZSWIM7

Diseases (55) :OMIM:615889 OMIM:240300 ORPHA:221008 OMIM:618625 OMIM:619699 ORPHA:101006 ORPHA:125 ORPHA:243 OMIM:300510 OMIM:618723 OMIM:619203 ORPHA:3261 ORPHA:3156 OMIM:618438 ORPHA:91411 OMIM:241080 ORPHA:3464 OMIM:300511 OMIM:603896 OMIM:617565 OMIM:610965 OMIM:612310 OMIM:300623 OMIM:311360 ORPHA:261483 OMIM:110100 ORPHA:572333 OMIM:608996 ORPHA:79237 ORPHA:79239 OMIM:230400 OMIM:619518 OMIM:615724 OMIM:619245 OMIM:615300 ORPHA:79474 OMIM:618124 OMIM:612885 OMIM:251260 OMIM:611548 OMIM:612964 OMIM:212065 OMIM:300604 OMIM:157640 OMIM:619425 OMIM:617175 ORPHA:217335 OMIM:619665 OMIM:615723 OMIM:613680 ORPHA:363444 ORPHA:391307 OMIM:609286 OMIM:619146 OMIM:619834

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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