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:
Abnormality of glycosaminoglycan metabolism (HP:0004371)

Grandparent Node:
Abnormality of urine homeostasis (HP:0003110)

Parent Node:
Abnormality of mucopolysaccharide metabolism (HP:0011020)

Parent Node:
Urinary glycosaminoglycan excretion (HP:0003541)

..Starting node
..Mucopolysacchariduria (HP:0008155)

Term ID:

8155

Name:

Mucopolysacchariduria

Synonym:

Definition:

Excessive amounts of mucopolysaccharide in the urine.

Comments:

Reference:

HP:0008155

Genes and Diseases:

Child Nodes:

........

Heparan sulfate excretion in urine (HP:0002159)

........

Dermatan sulfate excretion in urine (HP:0008301)

........

Keratan sulfate excretion in urine (HP:0012069)

........

Chondroitin sulfate excretion in urine (HP:0012070)

Sister Nodes:

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

Genes (19) :ARSB ARSK COL2A1 FUCA1 GALNS GLB1 GNPTAB GNS GUSB HGSNAT IDS IDUA NAGLU NGLY1 PIK3C2A RMRP SGSH SUMF1 VPS33A

Diseases (26) :OMIM:253200 OMIM:619698 ORPHA:485 ORPHA:349 OMIM:253000 OMIM:253010 OMIM:252500 OMIM:252940 ORPHA:584 OMIM:253220 OMIM:252930 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 ORPHA:93473 OMIM:607015 ORPHA:93474 OMIM:252920 OMIM:615273 OMIM:618440 ORPHA:175 OMIM:252900 OMIM:272200 ORPHA:585 ORPHA:505248

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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