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:0007131 | HP:0007131 | Acute demyelinating polyneuropathy | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0007131 | HP:0007131 | Acute demyelinating polyneuropathy | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | HP:0040280 - Obligate | | | 79 | | |
HP:0007131 | HP:0007131 | Acute demyelinating polyneuropathy | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040283 - Occasional | | | 79 | | |
HP:0007131 | HP:0007131 | Acute demyelinating polyneuropathy | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:139393 | GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS | | | | 79 | | |
HP:0007131 | HP:0007131 | Acute demyelinating polyneuropathy | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |