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:
Abnormal circulating polysaccharide concentration (HP:0011012)

Parent Node:
Abnormality of glycosaminoglycan metabolism (HP:0004371)

..Starting node
..Abnormality of mucopolysaccharide metabolism (HP:0011020)

Term ID:

11020

Name:

Abnormality of mucopolysaccharide metabolism

Synonym:

Definition:

An abnormality of the metabolism of mucopolysaccharide.

Comments:

Reference:

HP:0011020

Genes and Diseases:

Child Nodes:

........

Cellular metachromasia (HP:0003653)

................... HP:0003610 Fibroblast metachromasia

........

Mucopolysacchariduria (HP:0008155)

................... HP:0002159 Heparan sulfate excretion in urine
................... HP:0008301 Dermatan sulfate excretion in urine
................... HP:0012069 Keratan sulfate excretion in urine
................... HP:0012070 Chondroitin sulfate excretion in urine

Sister Nodes:

Urinary glycosaminoglycan excretion (HP:0003541)

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:0011020	HP:0011020	Abnormality of mucopolysaccharide metabolism	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0011020	HP:0011020	Abnormality of mucopolysaccharide metabolism	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0011020	HP:0011020	Abnormality of mucopolysaccharide metabolism	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0011020	HP:0011020	Abnormality of mucopolysaccharide metabolism	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent	78
HP:0011020	HP:0011020	Abnormality of mucopolysaccharide metabolism	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0011020	HP:0003653	Cellular metachromasia	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0011020	HP:0003653	Cellular metachromasia	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0011020	HP:0003610	Fibroblast metachromasia	2	CL E G H

Genes (4) :GNS HGSNAT MCOLN1 PIK3C2A

Diseases (5) :OMIM:252940 OMIM:252930 OMIM:252650 ORPHA:578 ORPHA:557003

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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