Human Phenotype Ontology

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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 urine homeostasis (HP:0003110)

Parent Node:
Proteinuria (HP:0000093)

..Starting node
..Low-molecular-weight proteinuria (HP:0003126)

Term ID:

3126

Name:

Low-molecular-weight proteinuria

Synonym:

Tubular proteinuria

Definition:

Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).

Comments:

Reference:

HP:0003126

Genes and Diseases:

Child Nodes:

Sister Nodes:

Albuminuria (HP:0012592)

Bence Jones Proteinuria (HP:0030156)

Beta 2-microglobulinuria (HP:0025466)

Heavy proteinuria (HP:0012597)

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:0003126	HP:0003126	Low-molecular-weight proteinuria	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I	.	112
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis		112
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3		2
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0003126	HP:0003126	Low-molecular-weight proteinuria	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47

Genes (7) :CLCN5 CTNS EHHADH GATM NDUFAF6 OCRL SLC34A1

Diseases (10) :OMIM:300009 OMIM:300554 OMIM:310468 OMIM:308990 OMIM:219800 ORPHA:411629 ORPHA:411634 OMIM:615605 ORPHA:3337 OMIM:300555

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

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