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 morphology of female internal genitalia (HP:0000008)

Grandparent Node:
Irregular menstruation (HP:0000858)

Parent Node:
Abnormality of the menstrual cycle (HP:0000140)

..Starting node
..Oligomenorrhea (HP:0000876)

Term ID:

876

Name:

Oligomenorrhea

Synonym:

Light or infrequent menstrual periods

Definition:

Infrequent menses (less than 6 per year or more than 35 days between cycles).

Comments:

Reference:

HP:0000876

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amenorrhea (HP:0000141)

Delayed menarche (HP:0012569)

Menometrorrhagia (HP:0400008)

Menorrhagia (HP:0000132)

Metrorrhagia (HP:0100608)

Polymenorrhea (HP:0400007)

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:0000876	HP:0000876	Oligomenorrhea	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	85
HP:0000876	HP:0000876	Oligomenorrhea	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0000876	HP:0000876	Oligomenorrhea	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040282 - Frequent	12
HP:0000876	HP:0000876	Oligomenorrhea	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0000876	HP:0000876	Oligomenorrhea	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0000876	HP:0000876	Oligomenorrhea	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	105
HP:0000876	HP:0000876	Oligomenorrhea	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	11
HP:0000876	HP:0000876	Oligomenorrhea	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	48
HP:0000876	HP:0000876	Oligomenorrhea	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0000876	HP:0000876	Oligomenorrhea	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0000876	HP:0000876	Oligomenorrhea	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2	.	3
HP:0000876	HP:0000876	Oligomenorrhea	0	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0000876	HP:0000876	Oligomenorrhea	0	FANCM CL E G H	57697	23168	OMIM:618096	Premature ovarian failure 15	.	107
HP:0000876	HP:0000876	Oligomenorrhea	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare
HP:0000876	HP:0000876	Oligomenorrhea	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0000876	HP:0000876	Oligomenorrhea	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040282 - Frequent	23
HP:0000876	HP:0000876	Oligomenorrhea	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0000876	HP:0000876	Oligomenorrhea	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0000876	HP:0000876	Oligomenorrhea	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0000876	HP:0000876	Oligomenorrhea	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1	.	8
HP:0000876	HP:0000876	Oligomenorrhea	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000876	HP:0000876	Oligomenorrhea	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000876	HP:0000876	Oligomenorrhea	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0000876	HP:0000876	Oligomenorrhea	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0000876	HP:0000876	Oligomenorrhea	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0000876	HP:0000876	Oligomenorrhea	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000876	HP:0000876	Oligomenorrhea	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000876	HP:0000876	Oligomenorrhea	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000876	HP:0000876	Oligomenorrhea	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13	.	5
HP:0000876	HP:0000876	Oligomenorrhea	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000876	HP:0000876	Oligomenorrhea	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0000876	HP:0000876	Oligomenorrhea	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040282 - Frequent	79
HP:0000876	HP:0000876	Oligomenorrhea	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0000876	HP:0000876	Oligomenorrhea	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0000876	HP:0000876	Oligomenorrhea	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0000876	HP:0000876	Oligomenorrhea	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.	19
HP:0000876	HP:0000876	Oligomenorrhea	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040282 - Frequent	19
HP:0000876	HP:0000876	Oligomenorrhea	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	42
HP:0000876	HP:0000876	Oligomenorrhea	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0000876	HP:0000876	Oligomenorrhea	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0000876	HP:0000876	Oligomenorrhea	0	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia	HP:0040281 - Very frequent	2
HP:0000876	HP:0000876	Oligomenorrhea	0	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA	HP:0040283 - Occasional	2
HP:0000876	HP:0000876	Oligomenorrhea	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000876	HP:0000876	Oligomenorrhea	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000876	HP:0000876	Oligomenorrhea	0	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	HP:0040283 - Occasional	10
HP:0000876	HP:0000876	Oligomenorrhea	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000876	HP:0000876	Oligomenorrhea	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000876	HP:0000876	Oligomenorrhea	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare	14
HP:0000876	HP:0000876	Oligomenorrhea	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0000876	HP:0000876	Oligomenorrhea	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0000876	HP:0000876	Oligomenorrhea	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0000876	HP:0000876	Oligomenorrhea	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7

Genes (45) :AGPAT2 AIP AKT2 ATRX BRAF BSCL2 CAV1 CAVIN1 CDH23 CIDEC CISD2 ERCC6 FANCM FOS FOXL2 FSHB GALT GNAS H6PD HERC2 IPW LARS2 LHB LIPE MAGEL2 MKRN3 MKRN3-AS1 MSH5 NPAP1 NR3C1 PHKA2 PHKB PHKG2 PLIN1 PPARG PRLR PWAR1 PWRN1 RNF216 SNORD115-1 SNORD116-1 STUB1 TP53 USP48 USP8

Diseases (30) :ORPHA:528 OMIM:219090 ORPHA:79085 ORPHA:96253 ORPHA:435651 OMIM:604928 OMIM:616946 OMIM:618096 ORPHA:572333 ORPHA:52901 ORPHA:79239 ORPHA:79443 ORPHA:79444 OMIM:604931 OMIM:176270 OMIM:615300 OMIM:228300 ORPHA:435660 OMIM:617442 ORPHA:786 ORPHA:264580 ORPHA:79240 OMIM:613877 ORPHA:280356 OMIM:604367 ORPHA:79083 ORPHA:397685 OMIM:615555 OMIM:212840 ORPHA:412057

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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