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 blood cation concentration (HP:0010929)

Parent Node:
Abnormal blood monovalent inorganic cation concentration (HP:0010930)

..Starting node
..Abnormal blood sodium concentration (HP:0010931)

Term ID:

10931

Name:

Abnormal blood sodium concentration

Synonym:

Abnormal blood Na+ levels; Abnormal circulating Na concentration; Abnormality of sodium homeostasis

Definition:

An abnormal concentration of sodium.

Comments:

Reference:

HP:0010931

Genes and Diseases:

Child Nodes:

........

Hyponatremia (HP:0002902)

........

Hypernatremia (HP:0003228)

........

Increased intracellular sodium (HP:0003575)

Sister Nodes:

Abnormal blood potassium concentration (HP:0011042)

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:0010931	HP:0010931	Abnormal blood sodium concentration	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency		62
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus		75
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus		67
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis		67
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated		4
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0010931	HP:0010931	Abnormal blood 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:0010931	HP:0010931	Abnormal blood sodium concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency		73
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige		16
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome		172
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease		1
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency		13
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant		109
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9		1
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive		67
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital		89
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption		74
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis		20
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency		57
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23		3
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis		6
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis		3
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis		2
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0010931	HP:0010931	Abnormal blood sodium concentration	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis		5
HP:0010931	HP:0002902	Hyponatremia	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0010931	HP:0002902	Hyponatremia	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare	68
HP:0010931	HP:0002902	Hyponatremia	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent	46
HP:0010931	HP:0003228	Hypernatremia	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0010931	HP:0003228	Hypernatremia	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040281 - Very frequent	75
HP:0010931	HP:0003228	Hypernatremia	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0010931	HP:0003228	Hypernatremia	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0010931	HP:0003228	Hypernatremia	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040281 - Very frequent	67
HP:0010931	HP:0002902	Hyponatremia	1	AVPR2 CL E G H	554	897	OMIM:300539	Nephrogenic syndrome of inappropriate antidiuresis	.	67
HP:0010931	HP:0002902	Hyponatremia	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0010931	HP:0002902	Hyponatremia	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	53
HP:0010931	HP:0002902	Hyponatremia	1	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.	4
HP:0010931	HP:0002902	Hyponatremia	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0010931	HP:0002902	Hyponatremia	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	9
HP:0010931	HP:0002902	Hyponatremia	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0010931	HP:0002902	Hyponatremia	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	27
HP:0010931	HP:0002902	Hyponatremia	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional	72
HP:0010931	HP:0002902	Hyponatremia	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0010931	HP:0002902	Hyponatremia	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0010931	HP:0002902	Hyponatremia	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:0010931	HP:0002902	Hyponatremia	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:0010931	HP:0002902	Hyponatremia	1	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0010931	HP:0002902	Hyponatremia	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040281 - Very frequent	73
HP:0010931	HP:0002902	Hyponatremia	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0010931	HP:0003228	Hypernatremia	1	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.	16
HP:0010931	HP:0002902	Hyponatremia	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0010931	HP:0002902	Hyponatremia	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare	65
HP:0010931	HP:0002902	Hyponatremia	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional	133
HP:0010931	HP:0003228	Hypernatremia	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0010931	HP:0002902	Hyponatremia	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0010931	HP:0002902	Hyponatremia	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0010931	HP:0002902	Hyponatremia	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0010931	HP:0002902	Hyponatremia	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0010931	HP:0002902	Hyponatremia	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0010931	HP:0002902	Hyponatremia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0010931	HP:0002902	Hyponatremia	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient	.	6
HP:0010931	HP:0002902	Hyponatremia	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0010931	HP:0002902	Hyponatremia	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0010931	HP:0002902	Hyponatremia	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0010931	HP:0002902	Hyponatremia	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0010931	HP:0002902	Hyponatremia	1	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	HP:0040283 - Occasional	13
HP:0010931	HP:0002902	Hyponatremia	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0010931	HP:0002902	Hyponatremia	1	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0010931	HP:0002902	Hyponatremia	1	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.	1
HP:0010931	HP:0002902	Hyponatremia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0010931	HP:0002902	Hyponatremia	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0010931	HP:0002902	Hyponatremia	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0010931	HP:0002902	Hyponatremia	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0010931	HP:0002902	Hyponatremia	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0010931	HP:0002902	Hyponatremia	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0010931	HP:0002902	Hyponatremia	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.	58
HP:0010931	HP:0002902	Hyponatremia	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0010931	HP:0002902	Hyponatremia	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0010931	HP:0002902	Hyponatremia	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional	263
HP:0010931	HP:0002902	Hyponatremia	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	67
HP:0010931	HP:0002902	Hyponatremia	1	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0010931	HP:0002902	Hyponatremia	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	61
HP:0010931	HP:0002902	Hyponatremia	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	57
HP:0010931	HP:0002902	Hyponatremia	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0010931	HP:0003228	Hypernatremia	1	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040282 - Frequent	74
HP:0010931	HP:0002902	Hyponatremia	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0010931	HP:0003228	Hypernatremia	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0010931	HP:0002902	Hyponatremia	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0010931	HP:0002902	Hyponatremia	1	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040281 - Very frequent	57
HP:0010931	HP:0002902	Hyponatremia	1	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23	.	3
HP:0010931	HP:0002902	Hyponatremia	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0010931	HP:0002902	Hyponatremia	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0010931	HP:0002902	Hyponatremia	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0010931	HP:0002902	Hyponatremia	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0010931	HP:0002902	Hyponatremia	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5

Genes (58) :ALAD ALG12 ALG8 AQP2 ARNT2 AVPR2 BSND CA12 CLCNKA CLCNKB CPOX CTNS CYP11A1 CYP11B2 DSG1 DZIP1L EIF2AK3 ELP1 FGFR1 FOCAD GEMIN4 HMBS HSD3B2 IRF4 LYST MAGED2 MC2R MRAP NFKB2 NNT NR0B1 NR3C2 NUP214 OCRL PAX2 PBX1 PKHD1 PLVAP PPOX PRF1 SAMD9 SARS2 SCN4A SCNN1A SCNN1B SCNN1G SLC26A3 SLC5A1 STAR SYK TBK1 TBX19 TDP2 TICAM1 TLR3 TRAF3 TXNRD2 UNC93B1

Diseases (54) :ORPHA:100924 ORPHA:79324 ORPHA:79325 OMIM:125800 ORPHA:223 OMIM:615926 OMIM:304800 OMIM:300539 OMIM:602522 ORPHA:89938 OMIM:143860 OMIM:613090 ORPHA:79273 OMIM:219800 ORPHA:411634 ORPHA:168558 ORPHA:289548 OMIM:203400 ORPHA:556030 OMIM:610600 OMIM:615508 ORPHA:731 ORPHA:1667 ORPHA:1764 OMIM:615465 OMIM:619991 OMIM:617913 ORPHA:79276 ORPHA:90791 ORPHA:3452 ORPHA:167 OMIM:300971 ORPHA:361 ORPHA:293978 OMIM:614736 OMIM:300200 OMIM:177735 OMIM:618426 ORPHA:534 ORPHA:97362 OMIM:618183 ORPHA:79473 OMIM:603553 OMIM:617053 OMIM:613845 ORPHA:682 ORPHA:171876 OMIM:264350 OMIM:214700 ORPHA:35710 OMIM:619381 ORPHA:1930 ORPHA:199296 OMIM:616949

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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