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
..Hypernatriuria (HP:0012605)

Term ID:

12605

Name:

Hypernatriuria

Synonym:

Increased urinary sodium

Definition:

An increased concentration of sodium(1+) in the urine.

Comments:

Reference:

HP:0012605

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyponatriuria (HP:0012604)

Renal sodium wasting (HP:0012606)

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:0012605	HP:0012605	Hypernatriuria	0	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis	.	67
HP:0012605	HP:0012605	Hypernatriuria	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0012605	HP:0012605	Hypernatriuria	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0012605	HP:0012605	Hypernatriuria	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0012605	HP:0012605	Hypernatriuria	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0012605	HP:0012605	Hypernatriuria	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0012605	HP:0012605	Hypernatriuria	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0012605	HP:0012605	Hypernatriuria	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0012605	HP:0012605	Hypernatriuria	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0012605	HP:0012605	Hypernatriuria	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0012605	HP:0012605	Hypernatriuria	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85

Genes (10) :AVPR2 BSND CLCNKA CLCNKB CYP11A1 MC2R MRAP NNT STAR TXNRD2

Diseases (6) :OMIM:300539 OMIM:602522 OMIM:613090 ORPHA:168558 ORPHA:289548 ORPHA:361

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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