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 urine homeostasis (HP:0003110)

Parent Node:
Proteinuria (HP:0000093)

..Starting node
..Heavy proteinuria (HP:0012597)

Term ID:

12597

Name:

Heavy proteinuria

Synonym:

Severly high blood protein levels

Definition:

Severely increased levels of protein in the urine (1000-3000 mg per day in adults).

Comments:

Reference:

HP:0012597

Genes and Diseases:

Child Nodes:

Sister Nodes:

Albuminuria (HP:0012592)

Bence Jones Proteinuria (HP:0030156)

Beta 2-microglobulinuria (HP:0025466)

Low-molecular-weight proteinuria (HP:0003126)

Mild proteinuria (HP:0012595)

Moderate proteinuria (HP:0012596)

Nephrotic range proteinuria (HP:0012593)

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:0012597	HP:0012597	Heavy proteinuria	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040281 - Very frequent	54
HP:0012597	HP:0012597	Heavy proteinuria	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040281 - Very frequent	54
HP:0012597	HP:0012597	Heavy proteinuria	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1

Genes (3) :COQ2 PDSS2 VPS33A

Diseases (2) :ORPHA:255249 ORPHA:505248

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