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:
Abnormal bleeding (HP:0001892)

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

..Starting node
..Menorrhagia (HP:0000132)

Term ID:

132

Name:

Menorrhagia

Synonym:

Abnormally heavy bleeding during menstruation; Abnormally heavy periods; Hypermenorrhea

Definition:

Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.

Comments:

Reference:

HP:0000132

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amenorrhea (HP:0000141)

Delayed menarche (HP:0012569)

Menometrorrhagia (HP:0400008)

Metrorrhagia (HP:0100608)

Oligomenorrhea (HP:0000876)

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:0000132	HP:0000132	Menorrhagia	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0000132	HP:0000132	Menorrhagia	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000132	HP:0000132	Menorrhagia	0	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0000132	HP:0000132	Menorrhagia	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040283 - Occasional	33
HP:0000132	HP:0000132	Menorrhagia	0	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.	33
HP:0000132	HP:0000132	Menorrhagia	0	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040282 - Frequent	132
HP:0000132	HP:0000132	Menorrhagia	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0000132	HP:0000132	Menorrhagia	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0000132	HP:0000132	Menorrhagia	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional	44
HP:0000132	HP:0000132	Menorrhagia	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0000132	HP:0000132	Menorrhagia	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0000132	HP:0000132	Menorrhagia	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0000132	HP:0000132	Menorrhagia	0	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency	HP:0040282 - Frequent	70
HP:0000132	HP:0000132	Menorrhagia	0	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency	.	70
HP:0000132	HP:0000132	Menorrhagia	0	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040282 - Frequent	303
HP:0000132	HP:0000132	Menorrhagia	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional	303
HP:0000132	HP:0000132	Menorrhagia	0	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21	.	8
HP:0000132	HP:0000132	Menorrhagia	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	23
HP:0000132	HP:0000132	Menorrhagia	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0000132	HP:0000132	Menorrhagia	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0000132	HP:0000132	Menorrhagia	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	8
HP:0000132	HP:0000132	Menorrhagia	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0000132	HP:0000132	Menorrhagia	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0000132	HP:0000132	Menorrhagia	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	21
HP:0000132	HP:0000132	Menorrhagia	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0000132	HP:0000132	Menorrhagia	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0000132	HP:0000132	Menorrhagia	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0000132	HP:0000132	Menorrhagia	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia	.	69
HP:0000132	HP:0000132	Menorrhagia	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0000132	HP:0000132	Menorrhagia	0	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24		80
HP:0000132	HP:0000132	Menorrhagia	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80
HP:0000132	HP:0000132	Menorrhagia	0	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0000132	HP:0000132	Menorrhagia	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040283 - Occasional	56
HP:0000132	HP:0000132	Menorrhagia	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040283 - Occasional	77
HP:0000132	HP:0000132	Menorrhagia	0	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of	.	77
HP:0000132	HP:0000132	Menorrhagia	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0000132	HP:0000132	Menorrhagia	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0000132	HP:0000132	Menorrhagia	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0000132	HP:0000132	Menorrhagia	0	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder	.	50
HP:0000132	HP:0000132	Menorrhagia	0	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19	.	2
HP:0000132	HP:0000132	Menorrhagia	0	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia	HP:0040283 - Occasional	2
HP:0000132	HP:0000132	Menorrhagia	0	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA	HP:0040283 - Occasional	2
HP:0000132	HP:0000132	Menorrhagia	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040282 - Frequent	39
HP:0000132	HP:0000132	Menorrhagia	0	SERPINE1 CL E G H	5054	8583	OMIM:613329	Plasminogen activator inhibitor-1 deficiency	.	39
HP:0000132	HP:0000132	Menorrhagia	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0000132	HP:0000132	Menorrhagia	0	SLFN14 CL E G H	342618	32689	OMIM:616913	Bleeding disorder, platelet-type, 20	.	6
HP:0000132	HP:0000132	Menorrhagia	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0000132	HP:0000132	Menorrhagia	0	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2	.	533
HP:0000132	HP:0000132	Menorrhagia	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533

Genes (31) :BLOC1S3 BLOC1S5 DIAPH1 F10 F11 F13A1 F13B F2 F5 F7 F8 FLI1 GP1BA GP1BB GP6 GP9 HPS4 HPS5 ITGA2B ITGB3 LMAN1 MCFD2 MYH9 NBEAL2 PLAU PRKACG PRLR SERPINE1 SLC37A4 SLFN14 VWF

Diseases (42) :OMIM:614077 OMIM:619172 OMIM:124900 ORPHA:328 OMIM:227600 ORPHA:329 ORPHA:331 ORPHA:325 OMIM:613679 ORPHA:326 OMIM:227400 ORPHA:327 OMIM:227500 ORPHA:177926 ORPHA:169802 OMIM:617443 ORPHA:274 OMIM:153670 OMIM:231200 OMIM:614201 OMIM:614073 OMIM:614074 OMIM:273800 ORPHA:849 OMIM:619271 OMIM:619267 ORPHA:35909 OMIM:613625 OMIM:155100 ORPHA:182050 OMIM:139090 OMIM:601709 OMIM:616176 ORPHA:397685 OMIM:615555 ORPHA:465 OMIM:613329 ORPHA:79259 OMIM:616913 OMIM:193400 OMIM:613554 OMIM:277480

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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