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:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | CELSR1 CL E G H | 9620 | 1850 | OMIM:619319 | LYMPHATIC MALFORMATION 9; LMPHM9 | | | | 13 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:153100 | Lymphatic malformation 1 | | | | 90 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | | | | 51 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | | | | 36 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 1090 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:606690 | LYMPHANGIOLEIOMYOMATOSIS | | | | 1090 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:606690 | LYMPHANGIOLEIOMYOMATOSIS | | | | 2738 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 2738 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0100766 | HP:0100766 | Abnormal lymphatic vessel morphology | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0100766 | HP:0045006 | Aplasia of lymphatic vessels | 1 | CL E G H | | | | | | | | | | |
HP:0100766 | HP:0031278 | Abnormal thoracic duct morphology | 1 | CL E G H | | | | | | | | | | |
HP:0100766 | HP:0031842 | Lymphangiectasis | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0100766 | HP:0031842 | Lymphangiectasis | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0100766 | HP:0031842 | Lymphangiectasis | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0100766 | HP:0033986 | Tortuous lymphatic vessels | 1 | CELSR1 CL E G H | 9620 | 1850 | OMIM:619319 | LYMPHATIC MALFORMATION 9; LMPHM9 | | | | 13 | | |
HP:0100766 | HP:0031842 | Lymphangiectasis | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0100766 | HP:0031842 | Lymphangiectasis | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0100766 | HP:0003759 | Hypoplasia of lymphatic vessels | 1 | FLT4 CL E G H | 2324 | 3767 | OMIM:153100 | Lymphatic malformation 1 | | | | 90 | | |
HP:0100766 | HP:0031842 | Lymphangiectasis | 1 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0100766 | HP:0031842 | Lymphangiectasis | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0100766 | HP:0012797 | Lymphatic vessel neoplasm | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0100766 | HP:0012797 | Lymphatic vessel neoplasm | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0100766 | HP:0031842 | Lymphangiectasis | 1 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | . | | | 51 | | |
HP:0100766 | HP:0031842 | Lymphangiectasis | 1 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | | | | 36 | | |
HP:0100766 | HP:0031842 | Lymphangiectasis | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0100766 | HP:0012797 | Lymphatic vessel neoplasm | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 1090 | | |
HP:0100766 | HP:0012797 | Lymphatic vessel neoplasm | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:606690 | LYMPHANGIOLEIOMYOMATOSIS | | | | 1090 | | |
HP:0100766 | HP:0012797 | Lymphatic vessel neoplasm | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0100766 | HP:0012797 | Lymphatic vessel neoplasm | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0100766 | HP:0012797 | Lymphatic vessel neoplasm | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:606690 | LYMPHANGIOLEIOMYOMATOSIS | | | | 2738 | | |
HP:0100766 | HP:0012797 | Lymphatic vessel neoplasm | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 2738 | | |
HP:0100766 | HP:0012797 | Lymphatic vessel neoplasm | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0100766 | HP:0012797 | Lymphatic vessel neoplasm | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0100766 | HP:0006273 | Pancreatic lymphangiectasis | 2 | CL E G H | | | | | | | | | | |
HP:0100766 | HP:0006521 | Pulmonary lymphangiectasia | 2 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100766 | HP:0006531 | Pleural lymphangiectasia | 2 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0100766 | HP:0005183 | Pericardial lymphangiectasia | 2 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0100766 | HP:0002593 | Intestinal lymphangiectasia | 2 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0100766 | HP:0008229 | Thyroid lymphangiectasia | 2 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0100766 | HP:0006521 | Pulmonary lymphangiectasia | 2 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0100766 | HP:0005183 | Pericardial lymphangiectasia | 2 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0100766 | HP:0006521 | Pulmonary lymphangiectasia | 2 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0100766 | HP:0002593 | Intestinal lymphangiectasia | 2 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0100766 | HP:0006521 | Pulmonary lymphangiectasia | 2 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0100766 | HP:0006521 | Pulmonary lymphangiectasia | 2 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0100766 | HP:0012798 | Pulmonary lymphangiomyomatosis | 2 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0100766 | HP:0012798 | Pulmonary lymphangiomyomatosis | 2 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0100766 | HP:0002593 | Intestinal lymphangiectasia | 2 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | | | | 36 | | |
HP:0100766 | HP:0006521 | Pulmonary lymphangiectasia | 2 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0100766 | HP:0012798 | Pulmonary lymphangiomyomatosis | 2 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040282 - Frequent | | | 1090 | | |
HP:0100766 | HP:0012798 | Pulmonary lymphangiomyomatosis | 2 | TSC1 CL E G H | 7248 | 12362 | OMIM:606690 | LYMPHANGIOLEIOMYOMATOSIS | . | | | 1090 | | |
HP:0100766 | HP:0012798 | Pulmonary lymphangiomyomatosis | 2 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0100766 | HP:0012798 | Pulmonary lymphangiomyomatosis | 2 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0100766 | HP:0012798 | Pulmonary lymphangiomyomatosis | 2 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040282 - Frequent | | | 2738 | | |
HP:0100766 | HP:0012798 | Pulmonary lymphangiomyomatosis | 2 | TSC2 CL E G H | 7249 | 12363 | OMIM:606690 | LYMPHANGIOLEIOMYOMATOSIS | . | | | 2738 | | |
HP:0100766 | HP:0012798 | Pulmonary lymphangiomyomatosis | 2 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0100766 | HP:0012798 | Pulmonary lymphangiomyomatosis | 2 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |