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
..Beta 2-microglobulinuria (HP:0025466)

Term ID:

25466

Name:

Beta 2-microglobulinuria

Synonym:

Definition:

Increased level of beta 2-microglobulins in the urine.

Comments:

Reference:

HP:0025466

Genes and Diseases:

Child Nodes:

Sister Nodes:

Albuminuria (HP:0012592)

Bence Jones Proteinuria (HP:0030156)

Heavy proteinuria (HP:0012597)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025466	HP:0025466	Beta 2-microglobulinuria	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	112
HP:0025466	HP:0025466	Beta 2-microglobulinuria	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral	39
HP:0025466	HP:0025466	Beta 2-microglobulinuria	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral	3

Genes (3) :CLCN5 PAX2 PBX1

Diseases (2) :OMIM:308990 ORPHA:97362

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