Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormality of mucopolysaccharide metabolism (HP:0011020)

Grandparent Node:
Urinary glycosaminoglycan excretion (HP:0003541)

Parent Node:
Mucopolysacchariduria (HP:0008155)

..Starting node
..Heparan sulfate excretion in urine (HP:0002159)

Term ID:

2159

Name:

Heparan sulfate excretion in urine

Synonym:

Heparan sulphate excretion in urine

Definition:

An increased concentration of heparan sulfates in the urine.

Comments:

Reference:

HP:0002159

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chondroitin sulfate excretion in urine (HP:0012070)

Dermatan sulfate excretion in urine (HP:0008301)

Keratan sulfate excretion in urine (HP:0012069)

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:0002159	HP:0002159	Heparan sulfate excretion in urine	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040281 - Very frequent	86
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent	86
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0002159	HP:0002159	Heparan sulfate excretion in urine	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1

Genes (9) :GNS GUSB HGSNAT IDS IDUA NAGLU NGLY1 SGSH VPS33A

Diseases (12) :OMIM:252940 OMIM:253220 OMIM:252930 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 OMIM:607015 OMIM:252920 OMIM:615273 OMIM:252900 ORPHA:505248

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen