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
..Menometrorrhagia (HP:0400008)

Term ID:

400008

Name:

Menometrorrhagia

Synonym:

Definition:

Prolonged/excessive menses and bleeding at irregular intervals.

Comments:

Reference:

HP:0400008

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amenorrhea (HP:0000141)

Delayed menarche (HP:0012569)

Menorrhagia (HP:0000132)

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:0400008	HP:0400008	Menometrorrhagia	0	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent	47
HP:0400008	HP:0400008	Menometrorrhagia	0	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent	62
HP:0400008	HP:0400008	Menometrorrhagia	0	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent	34
HP:0400008	HP:0400008	Menometrorrhagia	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	69
HP:0400008	HP:0400008	Menometrorrhagia	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040283 - Occasional	80

Genes (5) :FGA FGB FGG ITGA2B ITGB3

Diseases (2) :ORPHA:98880 ORPHA:849

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