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:0007307 | HP:0007307 | Rapid neurologic deterioration | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0007307 | HP:0007307 | Rapid neurologic deterioration | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040281 - Very frequent | | | 80 | | |