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 mucopolysaccharide metabolism (HP:0011020)

Grandparent Node:
Urinary glycosaminoglycan excretion (HP:0003541)

Parent Node:
Mucopolysacchariduria (HP:0008155)

..Starting node
..Dermatan sulfate excretion in urine (HP:0008301)

Term ID:

8301

Name:

Dermatan sulfate excretion in urine

Synonym:

Dermatan sulphate excretion in urine

Definition:

An increased concentration of dermatan sulfate in the urine.

Comments:

Reference:

HP:0008301

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chondroitin sulfate excretion in urine (HP:0012070)

Heparan sulfate excretion in urine (HP:0002159)

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:0008301	HP:0008301	Dermatan sulfate excretion in urine	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0008301	HP:0008301	Dermatan sulfate excretion in urine	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0008301	HP:0008301	Dermatan sulfate excretion in urine	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0008301	HP:0008301	Dermatan 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:0008301	HP:0008301	Dermatan 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:0008301	HP:0008301	Dermatan sulfate excretion in urine	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0008301	HP:0008301	Dermatan sulfate excretion in urine	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0008301	HP:0008301	Dermatan sulfate excretion in urine	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115

Genes (5) :ARSB ARSK GUSB IDS IDUA

Diseases (8) :OMIM:253200 OMIM:619698 OMIM:253220 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 OMIM:607015

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