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:
Abnormal urinary electrolyte concentration (HP:0012591)

Parent Node:
Abnormal urine sodium concentration (HP:0012603)

..Starting node
..Renal sodium wasting (HP:0012606)

Term ID:

12606

Name:

Renal sodium wasting

Synonym:

Kidney sodium wasting; Renal Na wasting; Renal Na+ wasting

Definition:

An abnormally increased sodium concentration in the urine in the presence of hyponatremia.

Comments:

Reference:

HP:0012606

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypernatriuria (HP:0012605)

Hyponatriuria (HP:0012604)

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:0012606	HP:0012606	Renal sodium wasting	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040281 - Very frequent	73
HP:0012606	HP:0012606	Renal sodium wasting	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0012606	HP:0012606	Renal sodium wasting	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0012606	HP:0012606	Renal sodium wasting	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0012606	HP:0012606	Renal sodium wasting	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0012606	HP:0012606	Renal sodium wasting	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0012606	HP:0012606	Renal sodium wasting	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47

Genes (6) :CYP11B2 EHHADH GATM KCNJ10 NDUFAF6 SLC34A1

Diseases (4) :ORPHA:556030 ORPHA:3337 ORPHA:199343 OMIM:612780

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