Human Phenotype Ontology

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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal circulating polysaccharide concentration (HP:0011012)

Parent Node:
obsolete Abnormality of glycoprotein metabolism (HP:0004367)

..Starting node
..obsolete Abnormality of proteoglycan metabolism (HP:0004355)

Term ID:

4355

Name:

obsolete Abnormality of proteoglycan metabolism

Synonym:

Definition:

Comments:

Reference:

HP:0004355

Genes and Diseases:

Child Nodes:

........

Increased serum iduronate sulfatase activity (HP:0003538)

Sister Nodes:

Reduced level of N-acetylglucosaminyltransferase II (HP:0003655)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004355	HP:0004355	obsolete Abnormality of proteoglycan metabolism	0	CL E G H

Genes (0) :

Diseases (0) :

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