Human Phenotype Ontology

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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:
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
..Metrorrhagia (HP:0100608)

Term ID:

100608

Name:

Metrorrhagia

Synonym:

Abnormal uterus bleeding; Intermenstrual bleeding; Menstrual spotting

Definition:

Bleeding at irregular intervals.

Comments:

Reference:

HP:0100608

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amenorrhea (HP:0000141)

Delayed menarche (HP:0012569)

Menometrorrhagia (HP:0400008)

Menorrhagia (HP:0000132)

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:0100608	HP:0100608	Metrorrhagia	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	101
HP:0100608	HP:0100608	Metrorrhagia	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040284 - Very rare	159
HP:0100608	HP:0100608	Metrorrhagia	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	4
HP:0100608	HP:0100608	Metrorrhagia	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0100608	HP:0100608	Metrorrhagia	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0100608	HP:0100608	Metrorrhagia	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	4
HP:0100608	HP:0100608	Metrorrhagia	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare
HP:0100608	HP:0100608	Metrorrhagia	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	12
HP:0100608	HP:0100608	Metrorrhagia	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare
HP:0100608	HP:0100608	Metrorrhagia	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	3
HP:0100608	HP:0100608	Metrorrhagia	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	134
HP:0100608	HP:0100608	Metrorrhagia	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	2
HP:0100608	HP:0100608	Metrorrhagia	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	110
HP:0100608	HP:0100608	Metrorrhagia	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	12
HP:0100608	HP:0100608	Metrorrhagia	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	22
HP:0100608	HP:0100608	Metrorrhagia	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040284 - Very rare	1

Genes (16) :BCOR F5 FIP1L1 FLI1 HPS5 IRF2BP2 NABP1 NPM1 NUMA1 PML PRKAR1A RARA STAT3 STAT5B TBL1XR1 ZBTB16

Diseases (4) :ORPHA:520 ORPHA:326 ORPHA:370348 OMIM:614074

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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