| Human Phenotype
Ontology
|
Grandparent Node:
 Abnormality of urine homeostasis (HP:0003110) | Parent Node:
Abnormal urinary electrolyte concentration (HP:0012591) | ..Starting node
..Abnormal urine chloride concentration (HP:0012600)
|
| Term ID: |
12600 |
| Name: |
Abnormal urine chloride concentration |
| Synonym: |
Abnormal urine Cl concentration; Abnormal urine Cl- concentration |
| Definition: |
An abnormal concentration of chloride in the urine. |
| Comments: |
|
| Reference: |
HP:0012600 |
| Genes and Diseases: | |
Child Nodes: | ........Hyperchloriduria (HP:0002914)
| ........Hypochloriduria (HP:0012601)
| ........Renal chloride wasting (HP:0012602)
|
Sister Nodes: | ..Abnormal urine magnesium concentration (HP:0012607)
| ..Abnormal urine phosphate concentration (HP:0012599)
| ..Abnormal urine potassium concentration (HP:0012598)
| ..Abnormal urine sodium concentration (HP:0012603)
| ..Abnormality of urine calcium concentration (HP:0011280)
| ..Renal salt wasting (HP:0000127)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0012600 | HP:0012600 | Abnormal urine chloride concentration | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | | | HP:0012600 | HP:0012600 | Abnormal urine chloride concentration | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 9 | | | | HP:0012600 | HP:0012600 | Abnormal urine chloride concentration | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | | | | 27 | | | | HP:0012600 | HP:0012600 | Abnormal urine chloride concentration | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 27 | | | | HP:0012600 | HP:0012600 | Abnormal urine chloride concentration | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | | | HP:0012600 | HP:0012600 | Abnormal urine chloride concentration | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | | | | 75 | | | | HP:0012600 | HP:0012601 | Hypochloriduria | 1 | CL E G H | | | | | | | | | | | | HP:0012600 | HP:0012602 | Renal chloride wasting | 1 | CL E G H | | | | | | | | | | | | HP:0012600 | HP:0002914 | Hyperchloriduria | 1 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | | | HP:0012600 | HP:0002914 | Hyperchloriduria | 1 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | | | HP:0012600 | HP:0002914 | Hyperchloriduria | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | . | | | 27 | | | | HP:0012600 | HP:0002914 | Hyperchloriduria | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | | | HP:0012600 | HP:0002914 | Hyperchloriduria | 1 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | | | HP:0012600 | HP:0002914 | Hyperchloriduria | 1 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
Genes (5) :BSND CLCNKA CLCNKB KCNJ1 SLC12A1
Diseases (5) :OMIM:602522 OMIM:613090 OMIM:607364 OMIM:241200 OMIM:601678 |
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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