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
..Keratan sulfate excretion in urine (HP:0012069)

Term ID:

12069

Name:

Keratan sulfate excretion in urine

Synonym:

Keratan sulphate excretion in urine

Definition:

An increased concentration of keratan sulfate in the urine.

Comments:

Reference:

HP:0012069

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chondroitin sulfate excretion in urine (HP:0012070)

Dermatan sulfate excretion in urine (HP:0008301)

Heparan sulfate excretion in urine (HP:0002159)

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:0012069	HP:0012069	Keratan sulfate excretion in urine	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0012069	HP:0012069	Keratan sulfate excretion in urine	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0012069	HP:0012069	Keratan sulfate excretion in urine	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0012069	HP:0012069	Keratan sulfate excretion in urine	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32

Genes (4) :COL2A1 GALNS GLB1 NGLY1

Diseases (4) :ORPHA:485 OMIM:253000 OMIM:253010 OMIM:615273

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