Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0100242 | HP:0100242 | Sarcoma | 0 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0100242 | Sarcoma | 0 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0030448 | Soft tissue sarcoma | 1 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0006765 | Chondrosarcoma | 1 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0008663 | Renal sarcoma | 1 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0012254 | Ewing sarcoma | 1 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0002669 | Osteosarcoma | 1 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0010614 | Fibroma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0010614 | Fibroma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0010614 | Fibroma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0010614 | Fibroma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0010614 | Fibroma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0010614 | Fibroma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0010614 | Fibroma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0010614 | Fibroma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0010614 | Fibroma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0010614 | Fibroma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0010614 | Fibroma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0010614 | Fibroma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0010614 | Fibroma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0010614 | Fibroma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0010614 | Fibroma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0010614 | Fibroma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0010614 | Fibroma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0010614 | Fibroma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0010614 | Fibroma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0010614 | Fibroma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0010614 | Fibroma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0200058 | Angiosarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0100244 | Fibrosarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0010614 | Fibroma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0100697 | Neurofibrosarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0002859 | Rhabdomyosarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0012218 | Alveolar soft part sarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0100243 | Leiomyosarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0012570 | Synovial sarcoma | 2 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2594 | 16627 | 604373 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | CHEK2 CL E G H | 11200 | 609265 | Li-Fraumeni syndrome 2 | 609265 | C1836482 | OMIM | 1 | | 2851 | 16627 | 604373 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 60 | 3508 | 133450 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | EWSR1 CL E G H | 2130 | 83469 | | | | ORPHA | 1 | | 62 | 3508 | 133450 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 124 | 4220 | 601146 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | GDF5 CL E G H | 8200 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 149 | 4220 | 601146 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1735 | 6342 | 164920 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 1490 | 6342 | 164920 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1929 | 8803 | 173490 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 1680 | 8803 | 173490 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 926 | 10681 | 185470 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 824 | 10681 | 185470 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 575 | 10682 | 602413 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 526 | 10682 | 602413 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0001067 | Neurofibromas | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0006743 | Embryonal rhabdomyosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0010618 | Ovarian fibroma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0010616 | Lung fibroma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0000169 | Gingival fibromatosis | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0009724 | Subungual fibromas | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0010619 | Fibroadenoma of the breast | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0030426 | Ossifying fibroma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0100242 | HP:0006779 | Alveolar rhabdomyosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0010617 | Cardiac fibroma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0500092 | Orbital rhabdomyosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0100245 | Desmoid tumors | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0002891 | Uterine leiomyosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0200059 | Metastatic angiosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0100804 | Ungual fibroma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0010615 | Angiofibromas | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0006755 | Cutaneous leiomyosarcoma | 3 | WT1 CL E G H | 7490 | 83469 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0100242 | HP:0005220 | Multiple intestinal neurofibromatosis | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0009595 | Occasional neurofibromas | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0009732 | Plexiform neurofibroma | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0009720 | Adenoma sebaceum | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0030427 | Ossifying fibroma of the jaw | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0100698 | Subcutaneous neurofibromas | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0007576 | Palmar neurofibromas | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0007524 | Atypical neurofibromatosis | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0006751 | Paraspinal neurofibromas | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0009735 | Spinal neurofibromas | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0030427 | Ossifying fibroma of the jaw | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0100698 | Subcutaneous neurofibromas | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0007576 | Palmar neurofibromas | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0007524 | Atypical neurofibromatosis | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0006751 | Paraspinal neurofibromas | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0009735 | Spinal neurofibromas | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0009720 | Adenoma sebaceum | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0100242 | HP:0005220 | Multiple intestinal neurofibromatosis | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0009595 | Occasional neurofibromas | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0009732 | Plexiform neurofibroma | 4 | BMPR1B CL E G H | 658 | 2098 | Ellis Yale Winter syndrome | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0100242 | HP:0005220 | Multiple intestinal neurofibromatosis | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0009595 | Occasional neurofibromas | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0009732 | Plexiform neurofibroma | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0009720 | Adenoma sebaceum | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0030427 | Ossifying fibroma of the jaw | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0100698 | Subcutaneous neurofibromas | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0007576 | Palmar neurofibromas | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0007524 | Atypical neurofibromatosis | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0006751 | Paraspinal neurofibromas | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0009735 | Spinal neurofibromas | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0100242 | HP:0100698 | Subcutaneous neurofibromas | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0007576 | Palmar neurofibromas | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0007524 | Atypical neurofibromatosis | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0100242 | HP:0006751 | Paraspinal neurofibromas | 4 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | |