Human Phenotype Ontology

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:0000858	HP:0000858	Irregular menstruation	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0000858	HP:0000858	Irregular menstruation	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0000858	HP:0000858	Irregular menstruation	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	95
HP:0000858	HP:0000858	Irregular menstruation	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000858	HP:0000858	Irregular menstruation	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0000858	HP:0000858	Irregular menstruation	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0000858	HP:0000858	Irregular menstruation	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0000858	HP:0000858	Irregular menstruation	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0000858	HP:0000858	Irregular menstruation	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0000858	HP:0000858	Irregular menstruation	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	636
HP:0000858	HP:0000858	Irregular menstruation	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0000858	HP:0000858	Irregular menstruation	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0000858	HP:0000858	Irregular menstruation	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0000858	HP:0000858	Irregular menstruation	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0000858	HP:0000858	Irregular menstruation	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0000858	HP:0000858	Irregular menstruation	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0000858	HP:0000858	Irregular menstruation	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0000858	HP:0000858	Irregular menstruation	0	ERAL1 CL E G H	26284	3424	OMIM:617565	PERRAULT SYNDROME 6; PRLTS6		1
HP:0000858	HP:0000858	Irregular menstruation	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000858	HP:0000858	Irregular menstruation	0	FMR1 CL E G H	2332	3775	OMIM:311360	Premature ovarian failure 1	.	30
HP:0000858	HP:0000858	Irregular menstruation	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0000858	HP:0000858	Irregular menstruation	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0000858	HP:0000858	Irregular menstruation	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0000858	HP:0000858	Irregular menstruation	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0000858	HP:0000858	Irregular menstruation	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0000858	HP:0000858	Irregular menstruation	0	HSF2BP CL E G H	11077	5226	OMIM:619245	PREMATURE OVARIAN FAILURE 19; POF19		1
HP:0000858	HP:0000858	Irregular menstruation	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0000858	HP:0000858	Irregular menstruation	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0000858	HP:0000858	Irregular menstruation	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type		645
HP:0000858	HP:0000858	Irregular menstruation	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040281 - Very frequent	462
HP:0000858	HP:0000858	Irregular menstruation	0	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	HP:0040283 - Occasional	79
HP:0000858	HP:0000858	Irregular menstruation	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0000858	HP:0000858	Irregular menstruation	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040283 - Occasional	113
HP:0000858	HP:0000858	Irregular menstruation	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0000858	HP:0000858	Irregular menstruation	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0000858	HP:0000858	Irregular menstruation	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0000858	HP:0000858	Irregular menstruation	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0000858	HP:0000858	Irregular menstruation	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0000858	HP:0000858	Irregular menstruation	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0000858	HP:0000858	Irregular menstruation	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0000858	HP:0000858	Irregular menstruation	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040283 - Occasional	134
HP:0000858	HP:0000858	Irregular menstruation	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0000858	HP:0000858	Irregular menstruation	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0000858	HP:0000858	Irregular menstruation	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000858	HP:0000858	Irregular menstruation	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0000858	HP:0000858	Irregular menstruation	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent	110
HP:0000858	HP:0000858	Irregular menstruation	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0000858	HP:0100607	Dysmenorrhea	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent	95
HP:0000858	HP:0100607	Dysmenorrhea	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0000858	HP:0100607	Dysmenorrhea	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0000858	HP:0100607	Dysmenorrhea	1	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:0000858	HP:0100607	Dysmenorrhea	1	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:0000858	HP:0100607	Dysmenorrhea	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent	5
HP:0000858	HP:0100607	Dysmenorrhea	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0000858	HP:0100607	Dysmenorrhea	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0000858	HP:0100607	Dysmenorrhea	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional	645
HP:0000858	HP:0100607	Dysmenorrhea	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0000858	HP:0100607	Dysmenorrhea	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0000858	HP:0100607	Dysmenorrhea	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0000858	HP:0100607	Dysmenorrhea	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0000858	HP:0100607	Dysmenorrhea	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0000858	HP:0100607	Dysmenorrhea	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42