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:0006463 | HP:0006463 | Rickets of the lower limbs | 0 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 48 | | |
HP:0006463 | HP:0006463 | Rickets of the lower limbs | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 151 | | |
HP:0006463 | HP:0006463 | Rickets of the lower limbs | 0 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | HP:0040283 - Occasional | | | 107 | | |