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:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis		43
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent	120
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7		54
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome		115
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB		72
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency		80
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency		80
HP:0003541	HP:0003541	Urinary glycosaminoglycan excretion	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0003541	HP:0008155	Mucopolysacchariduria	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0003541	HP:0008155	Mucopolysacchariduria	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0003541	HP:0008155	Mucopolysacchariduria	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0003541	HP:0008155	Mucopolysacchariduria	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent	43
HP:0003541	HP:0008155	Mucopolysacchariduria	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0003541	HP:0008155	Mucopolysacchariduria	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0003541	HP:0008155	Mucopolysacchariduria	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0003541	HP:0008155	Mucopolysacchariduria	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0003541	HP:0008155	Mucopolysacchariduria	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040282 - Frequent	54
HP:0003541	HP:0008155	Mucopolysacchariduria	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0003541	HP:0008155	Mucopolysacchariduria	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0003541	HP:0008155	Mucopolysacchariduria	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0003541	HP:0008155	Mucopolysacchariduria	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0003541	HP:0008155	Mucopolysacchariduria	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0003541	HP:0008155	Mucopolysacchariduria	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent	115
HP:0003541	HP:0008155	Mucopolysacchariduria	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0003541	HP:0008155	Mucopolysacchariduria	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0003541	HP:0008155	Mucopolysacchariduria	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040281 - Very frequent	115
HP:0003541	HP:0008155	Mucopolysacchariduria	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB		72
HP:0003541	HP:0008155	Mucopolysacchariduria	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0003541	HP:0008155	Mucopolysacchariduria	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0003541	HP:0008155	Mucopolysacchariduria	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040282 - Frequent	37
HP:0003541	HP:0008155	Mucopolysacchariduria	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0003541	HP:0008155	Mucopolysacchariduria	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent	80
HP:0003541	HP:0008155	Mucopolysacchariduria	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0003541	HP:0008155	Mucopolysacchariduria	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0003541	HP:0008301	Dermatan sulfate excretion in urine	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0003541	HP:0008301	Dermatan sulfate excretion in urine	2	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0003541	HP:0012069	Keratan sulfate excretion in urine	2	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0003541	HP:0012070	Chondroitin sulfate excretion in urine	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003541	HP:0012069	Keratan sulfate excretion in urine	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003541	HP:0012069	Keratan sulfate excretion in urine	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0003541	HP:0008301	Dermatan sulfate excretion in urine	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0003541	HP:0008301	Dermatan sulfate excretion in urine	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent	86
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent	86
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent	86
HP:0003541	HP:0008301	Dermatan sulfate excretion in urine	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent	86
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0003541	HP:0008301	Dermatan sulfate excretion in urine	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0003541	HP:0008301	Dermatan sulfate excretion in urine	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0003541	HP:0008301	Dermatan sulfate excretion in urine	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0003541	HP:0012069	Keratan sulfate excretion in urine	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0003541	HP:0012070	Chondroitin sulfate excretion in urine	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0003541	HP:0002159	Heparan sulfate excretion in urine	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1