Human Phenotype Ontology 
Grandparent Node:
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Alkalosis (HP:0001948)help
Parent Node:
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Hypokalemic alkalosis (HP:0001949)help
Parent Node:
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Metabolic alkalosis (HP:0200114)help
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Hypokalemic metabolic alkalosis (HP:0001960)help
Term ID: 1960
Name: Hypokalemic metabolic alkalosis
Synonym:
Definition:
Comments:
Reference: HP:0001960
Genes and Diseases:
 
       Child Nodes:
........expandHypokalemic hypochloremic metabolic alkalosis (HP:0004909) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness53
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent53
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness9
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent9
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness27
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040281 - Very frequent27
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040282 - Frequent14
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0001960HP:0001960Hypokalemic metabolic alkalosis0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0001960HP:0004909Hypokalemic hypochloremic metabolic alkalosis1BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0001960HP:0004909Hypokalemic hypochloremic metabolic alkalosis1CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0001960HP:0004909Hypokalemic hypochloremic metabolic alkalosis1CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27


Genes (9) :BSND CLCNKA CLCNKB HLA-B HSD11B2 IKZF1 KCNJ1 KCNJ10 SLC12A1

Diseases (9) :OMIM:602522 ORPHA:89938 OMIM:613090 OMIM:607364 ORPHA:36426 ORPHA:320 OMIM:241200 OMIM:612780 OMIM:601678
 

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