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:
Puberty and gonadal disorders (HP:0008373)

Parent Node:
Irregular menstruation (HP:0000858)

..Starting node
..Dysmenorrhea (HP:0100607)

Term ID:

100607

Name:

Dysmenorrhea

Synonym:

Painful menstruation

Definition:

Pain during menstruation that interferes with daily activities.

Comments:

Reference:

HP:0100607

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the menstrual cycle (HP:0000140)

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:0100607	HP:0100607	Dysmenorrhea	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent	95
HP:0100607	HP:0100607	Dysmenorrhea	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0100607	HP:0100607	Dysmenorrhea	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0100607	HP:0100607	Dysmenorrhea	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0100607	HP:0100607	Dysmenorrhea	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0100607	HP:0100607	Dysmenorrhea	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent	5
HP:0100607	HP:0100607	Dysmenorrhea	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0100607	HP:0100607	Dysmenorrhea	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0100607	HP:0100607	Dysmenorrhea	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional	645
HP:0100607	HP:0100607	Dysmenorrhea	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0100607	HP:0100607	Dysmenorrhea	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0100607	HP:0100607	Dysmenorrhea	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0100607	HP:0100607	Dysmenorrhea	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0100607	HP:0100607	Dysmenorrhea	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0100607	HP:0100607	Dysmenorrhea	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42

Genes (14) :AIP ANTXR1 CDKN1C CYB5A CYP17A1 GPR101 HMGA2 IGF2 LMNA PHKA2 PHKB PHKG2 PLAG1 PPARG

Diseases (9) :ORPHA:963 ORPHA:2067 ORPHA:397590 ORPHA:90796 ORPHA:280365 ORPHA:2348 ORPHA:264580 ORPHA:79240 ORPHA:79083

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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