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
..Mild proteinuria (HP:0012595)

Term ID:

12595

Name:

Mild proteinuria

Synonym:

Definition:

Mildly increased levels of protein in the urine (150-500 mg per day in adults).

Comments:

Reference:

HP:0012595

Genes and Diseases:

Child Nodes:

Sister Nodes:

Albuminuria (HP:0012592)

Bence Jones Proteinuria (HP:0030156)

Beta 2-microglobulinuria (HP:0025466)

Heavy proteinuria (HP:0012597)

Low-molecular-weight proteinuria (HP:0003126)

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:0012595	HP:0012595	Mild proteinuria	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012595	HP:0012595	Mild proteinuria	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0012595	HP:0012595	Mild proteinuria	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	56
HP:0012595	HP:0012595	Mild proteinuria	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	57
HP:0012595	HP:0012595	Mild proteinuria	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0012595	HP:0012595	Mild proteinuria	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	HP:0040283 - Occasional	95

Genes (6) :KARS1 PAX2 SLC22A12 SLC2A9 VPS50 WDR19

Diseases (5) :OMIM:619147 OMIM:120330 ORPHA:94088 OMIM:619685 OMIM:614377

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