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 acid-base homeostasis (HP:0004360)

Parent Node:
Alkalosis (HP:0001948)

..Starting node
..Metabolic alkalosis (HP:0200114)

Term ID:

200114

Name:

Metabolic alkalosis

Synonym:

Definition:

Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.

Comments:

Reference:

HP:0200114

Genes and Diseases:

Child Nodes:

........

Hypokalemic metabolic alkalosis (HP:0001960)

................... HP:0004909 Hypokalemic hypochloremic metabolic alkalosis

Sister Nodes:

Hypochloremic metabolic alkalosis (HP:0005977)

Hypokalemic alkalosis (HP:0001949)

Respiratory alkalosis (HP:0001950)

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:0200114	HP:0200114	Metabolic alkalosis	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0200114	HP:0200114	Metabolic alkalosis	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0200114	HP:0200114	Metabolic alkalosis	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.	51
HP:0200114	HP:0200114	Metabolic alkalosis	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0200114	HP:0200114	Metabolic alkalosis	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040283 - Occasional	44
HP:0200114	HP:0200114	Metabolic alkalosis	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0200114	HP:0200114	Metabolic alkalosis	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0200114	HP:0200114	Metabolic alkalosis	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0200114	HP:0200114	Metabolic alkalosis	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0200114	HP:0200114	Metabolic alkalosis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0200114	HP:0200114	Metabolic alkalosis	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0200114	HP:0200114	Metabolic alkalosis	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0200114	HP:0200114	Metabolic alkalosis	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess		14
HP:0200114	HP:0200114	Metabolic alkalosis	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.	14
HP:0200114	HP:0200114	Metabolic alkalosis	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0200114	HP:0200114	Metabolic alkalosis	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0200114	HP:0200114	Metabolic alkalosis	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0200114	HP:0200114	Metabolic alkalosis	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0200114	HP:0200114	Metabolic alkalosis	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional	128
HP:0200114	HP:0200114	Metabolic alkalosis	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0200114	HP:0200114	Metabolic alkalosis	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040282 - Frequent	79
HP:0200114	HP:0200114	Metabolic alkalosis	0	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	.	79
HP:0200114	HP:0200114	Metabolic alkalosis	0	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3	.	67
HP:0200114	HP:0200114	Metabolic alkalosis	0	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1	.	61
HP:0200114	HP:0200114	Metabolic alkalosis	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2	.	57
HP:0200114	HP:0200114	Metabolic alkalosis	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0200114	HP:0200114	Metabolic alkalosis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0200114	HP:0200114	Metabolic alkalosis	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	53
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	9
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	27
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent	14
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0200114	HP:0001960	Hypokalemic metabolic alkalosis	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0200114	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0200114	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0200114	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27

Genes (19) :BSND CACNA1D CLCN2 CLCNKA CLCNKB HLA-B HSD11B2 IKZF1 KCNJ1 KCNJ10 KCNJ5 NARS2 NR3C1 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC26A3

Diseases (23) :OMIM:602522 ORPHA:89938 OMIM:615474 ORPHA:369929 ORPHA:404 OMIM:613090 OMIM:607364 ORPHA:358 ORPHA:36426 ORPHA:320 OMIM:218030 OMIM:241200 ORPHA:199343 OMIM:612780 ORPHA:251274 OMIM:616239 ORPHA:786 OMIM:615962 OMIM:618126 OMIM:177200 OMIM:618114 OMIM:601678 OMIM:214700

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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