Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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 | | |