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:0001986 | HP:0001986 | Hypertonic dehydration | 0 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0001986 | HP:0001986 | Hypertonic dehydration | 0 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 75 | | |
HP:0001986 | HP:0001986 | Hypertonic dehydration | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | . | | | 67 | | |
HP:0001986 | HP:0001986 | Hypertonic dehydration | 0 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 67 | | |
HP:0001986 | HP:0001986 | Hypertonic dehydration | 0 | CA12 CL E G H | 771 | 1371 | OMIM:143860 | Hyperchlorhidrosis, isolated | | | | 4 | | |
HP:0001986 | HP:0001986 | Hypertonic dehydration | 0 | SLC5A1 CL E G H | 6523 | 11036 | OMIM:606824 | Glucose/galactose malabsorption | . | | | 74 | | |
HP:0001986 | HP:0001986 | Hypertonic dehydration | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0001986 | HP:0004906 | Hypernatremic dehydration | 1 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040281 - Very frequent | | | 75 | | |
HP:0001986 | HP:0004906 | Hypernatremic dehydration | 1 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040281 - Very frequent | | | 67 | | |
HP:0001986 | HP:0004906 | Hypernatremic dehydration | 1 | CA12 CL E G H | 771 | 1371 | OMIM:143860 | Hyperchlorhidrosis, isolated | . | | | 4 | | |
HP:0001986 | HP:0004906 | Hypernatremic dehydration | 1 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |