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:0030081 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 253 | | |
HP:0030081 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 253 | | |
HP:0030081 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 253 | | |
HP:0030081 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0030081 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040283 - Occasional | | | 69 | | |
HP:0030081 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 81 | | |
HP:0030081 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 81 | | |
HP:0030081 | HP:0030081 | Punctate periventricular T2 hyperintense foci | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 81 | | |