Human Phenotype
Ontology
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Grandparent Node: Abnormality of acid-base homeostasis (HP:0004360) | Parent Node: Alkalosis (HP:0001948) | ..Starting node ..Hypochloremic metabolic alkalosis (HP:0005977)
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Term ID: |
5977 |
Name: |
Hypochloremic metabolic alkalosis |
Synonym: |
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Definition: |
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Comments: |
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Reference: |
HP:0005977 |
Genes and Diseases: | | Child Nodes: | ........Hypokalemic hypochloremic metabolic alkalosis (HP:0004909) | Sister Nodes: | ..Hypokalemic alkalosis (HP:0001949)
| ..Metabolic alkalosis (HP:0200114)
| ..Respiratory alkalosis (HP:0001950)
| 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:0005977 | HP:0005977 | Hypochloremic metabolic alkalosis | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | | HP:0005977 | HP:0005977 | Hypochloremic metabolic alkalosis | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 9 | | | HP:0005977 | HP:0005977 | Hypochloremic metabolic alkalosis | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 27 | | | HP:0005977 | HP:0005977 | Hypochloremic metabolic alkalosis | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | | HP:0005977 | HP:0004909 | Hypokalemic hypochloremic metabolic alkalosis | 1 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | | HP:0005977 | HP:0004909 | Hypokalemic hypochloremic metabolic alkalosis | 1 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | | HP:0005977 | HP:0004909 | Hypokalemic hypochloremic metabolic alkalosis | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
Genes (4) :BSND CLCNKA CLCNKB SARS2
Diseases (3) :OMIM:602522 OMIM:613090 OMIM:613845 |
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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