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:
Abnormal urinary electrolyte concentration (HP:0012591)

..Starting node
..Abnormal urine sodium concentration (HP:0012603)

Term ID:

12603

Name:

Abnormal urine sodium concentration

Synonym:

Abnormal urine Na concentration; Abnormal urine Na+ levels

Definition:

An abnormal concentration of sodium in the urine.

Comments:

Reference:

HP:0012603

Genes and Diseases:

Child Nodes:

........

Hyponatriuria (HP:0012604)

........

Hypernatriuria (HP:0012605)

........

Renal sodium wasting (HP:0012606)

Sister Nodes:

Abnormal urine chloride concentration (HP:0012600)

Abnormal urine magnesium concentration (HP:0012607)

Abnormal urine phosphate concentration (HP:0012599)

Abnormal urine potassium concentration (HP:0012598)

Abnormality of urine calcium concentration (HP:0011280)

Renal salt wasting (HP:0000127)

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:0012603	HP:0012603	Abnormal urine sodium concentration	0	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis		67
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent	14
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome		121
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0012603	HP:0012603	Abnormal urine sodium concentration	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0012603	HP:0012604	Hyponatriuria	1	CL E G H
HP:0012603	HP:0012605	Hypernatriuria	1	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis	.	67
HP:0012603	HP:0012605	Hypernatriuria	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0012603	HP:0012605	Hypernatriuria	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0012603	HP:0012605	Hypernatriuria	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0012603	HP:0012605	Hypernatriuria	1	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:0012603	HP:0012605	Hypernatriuria	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0012603	HP:0012606	Renal sodium wasting	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040281 - Very frequent	73
HP:0012603	HP:0012606	Renal sodium wasting	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0012603	HP:0012606	Renal sodium wasting	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0012603	HP:0012606	Renal sodium wasting	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0012603	HP:0012606	Renal sodium wasting	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0012603	HP:0012605	Hypernatriuria	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0012603	HP:0012605	Hypernatriuria	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0012603	HP:0012606	Renal sodium wasting	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0012603	HP:0012605	Hypernatriuria	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0012603	HP:0012606	Renal sodium wasting	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0012603	HP:0012605	Hypernatriuria	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0012603	HP:0012605	Hypernatriuria	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85

Genes (17) :AVPR2 BSND CLCNKA CLCNKB CYP11A1 CYP11B2 EHHADH GATM HSD11B2 KCNJ10 MC2R MRAP NDUFAF6 NNT SLC34A1 STAR TXNRD2

Diseases (11) :OMIM:300539 OMIM:602522 OMIM:613090 ORPHA:168558 ORPHA:289548 ORPHA:556030 ORPHA:3337 ORPHA:320 ORPHA:199343 OMIM:612780 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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