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:0003550 | HP:0003550 | Predominantly lower limb lymphedema | 0 | CELSR1 CL E G H | 9620 | 1850 | OMIM:619319 | LYMPHATIC MALFORMATION 9; LMPHM9 | | | | 13 | | |
HP:0003550 | HP:0003550 | Predominantly lower limb lymphedema | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0003550 | HP:0003550 | Predominantly lower limb lymphedema | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:90186 | Meige disease | HP:0040282 - Frequent | | | 3 | | |
HP:0003550 | HP:0003550 | Predominantly lower limb lymphedema | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:153100 | Lymphatic malformation 1 | | | | 90 | | |
HP:0003550 | HP:0003550 | Predominantly lower limb lymphedema | 0 | FLT4 CL E G H | 2324 | 3767 | ORPHA:79452 | Milroy disease | HP:0040282 - Frequent | | | 90 | | |
HP:0003550 | HP:0003550 | Predominantly lower limb lymphedema | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | . | | | 20 | | |
HP:0003550 | HP:0003550 | Predominantly lower limb lymphedema | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0003550 | HP:0003550 | Predominantly lower limb lymphedema | 0 | GJC2 CL E G H | 57165 | 17494 | ORPHA:79452 | Milroy disease | HP:0040282 - Frequent | | | 37 | | |
HP:0003550 | HP:0003550 | Predominantly lower limb lymphedema | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | . | | | 7 | | |
HP:0003550 | HP:0003550 | Predominantly lower limb lymphedema | 0 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | HP:0040281 - Very frequent | | | 7 | | |