Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 617 | 1149 | 602860 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 511 | 1149 | 602860 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | DICER1 CL E G H | 23405 | 601200 | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 601200 | CN072455 | OMIM | 1 | | 3888 | 17098 | 606241 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | DICER1 CL E G H | 23405 | 601200 | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 601200 | CN072455 | OMIM | 1 | | 3440 | 17098 | 606241 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 467 | 5173 | 190020 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 411 | 5173 | 190020 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3763 | 7127 | 120436 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3540 | 7127 | 120436 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4964 | 7325 | 609309 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4607 | 7325 | 609309 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 6219 | 7329 | 600678 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 5717 | 7329 | 600678 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 2640 | 7652 | 602667 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 2402 | 7652 | 602667 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 9151 | 7765 | 613113 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 8060 | 7765 | 613113 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3421 | 9122 | 600259 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3154 | 9122 | 600259 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 617 | 1149 | 602860 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 511 | 1149 | 602860 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 617 | 1149 | 602860 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 617 | 1149 | 602860 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 511 | 1149 | 602860 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 511 | 1149 | 602860 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | DICER1 CL E G H | 23405 | 601200 | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 601200 | CN072455 | OMIM | 1 | | 3888 | 17098 | 606241 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | DICER1 CL E G H | 23405 | 601200 | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 601200 | CN072455 | OMIM | 1 | | 3440 | 17098 | 606241 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | DICER1 CL E G H | 23405 | 601200 | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 601200 | CN072455 | OMIM | 1 | | 3888 | 17098 | 606241 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | DICER1 CL E G H | 23405 | 601200 | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 601200 | CN072455 | OMIM | 1 | | 3888 | 17098 | 606241 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | DICER1 CL E G H | 23405 | 601200 | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 601200 | CN072455 | OMIM | 1 | | 3440 | 17098 | 606241 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | DICER1 CL E G H | 23405 | 601200 | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 601200 | CN072455 | OMIM | 1 | | 3440 | 17098 | 606241 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 467 | 5173 | 190020 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 411 | 5173 | 190020 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 467 | 5173 | 190020 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 467 | 5173 | 190020 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 411 | 5173 | 190020 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 411 | 5173 | 190020 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3763 | 7127 | 120436 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3540 | 7127 | 120436 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3763 | 7127 | 120436 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3763 | 7127 | 120436 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3540 | 7127 | 120436 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | MLH1 CL E G H | 4292 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3540 | 7127 | 120436 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4964 | 7325 | 609309 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4607 | 7325 | 609309 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4964 | 7325 | 609309 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4964 | 7325 | 609309 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4607 | 7325 | 609309 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | MSH2 CL E G H | 4436 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 4607 | 7325 | 609309 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 6219 | 7329 | 600678 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 5717 | 7329 | 600678 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 6219 | 7329 | 600678 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 6219 | 7329 | 600678 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 5717 | 7329 | 600678 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | MSH6 CL E G H | 2956 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 5717 | 7329 | 600678 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 2640 | 7652 | 602667 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 2402 | 7652 | 602667 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 2640 | 7652 | 602667 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 2640 | 7652 | 602667 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 2402 | 7652 | 602667 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 2402 | 7652 | 602667 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 9151 | 7765 | 613113 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 8060 | 7765 | 613113 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 9151 | 7765 | 613113 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 9151 | 7765 | 613113 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 8060 | 7765 | 613113 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 8060 | 7765 | 613113 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3421 | 9122 | 600259 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3154 | 9122 | 600259 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3421 | 9122 | 600259 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3421 | 9122 | 600259 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3154 | 9122 | 600259 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | PMS2 CL E G H | 5395 | 276300 | Turcot syndrome | 276300 | C0265325 | OMIM | 1 | | 3154 | 9122 | 600259 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 88 | 1148 | 602452 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 86 | 1148 | 602452 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 617 | 1149 | 602860 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 511 | 1149 | 602860 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 51 | 1151 | 603719 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 275 | 30794 | 607951 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 212 | 30794 | 607951 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 428 | 6929 | 155555 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 376 | 6929 | 155555 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 0 | | 2640 | 7652 | 602667 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 0 | | 2402 | 7652 | 602667 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 226 | 7989 | 164790 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 212 | 7989 | 164790 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 0 | | 2988 | 9585 | 601309 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 0 | | 2628 | 9585 | 601309 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | TRIP13 CL E G H | 9319 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 219 | 12307 | 604507 |
HP:0002859 | HP:0002859 | Rhabdomyosarcoma | 0 | TRIP13 CL E G H | 9319 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 213 | 12307 | 604507 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 88 | 1148 | 602452 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 86 | 1148 | 602452 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 88 | 1148 | 602452 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 88 | 1148 | 602452 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 86 | 1148 | 602452 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 86 | 1148 | 602452 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 617 | 1149 | 602860 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 511 | 1149 | 602860 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 617 | 1149 | 602860 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 617 | 1149 | 602860 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 511 | 1149 | 602860 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 511 | 1149 | 602860 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 51 | 1151 | 603719 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 51 | 1151 | 603719 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 51 | 1151 | 603719 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 275 | 30794 | 607951 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 212 | 30794 | 607951 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 275 | 30794 | 607951 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 275 | 30794 | 607951 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 212 | 30794 | 607951 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 212 | 30794 | 607951 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 428 | 6929 | 155555 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 376 | 6929 | 155555 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 428 | 6929 | 155555 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 428 | 6929 | 155555 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 376 | 6929 | 155555 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 376 | 6929 | 155555 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 0 | | 2640 | 7652 | 602667 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 0 | | 2402 | 7652 | 602667 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 0 | | 2640 | 7652 | 602667 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 0 | | 2640 | 7652 | 602667 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 0 | | 2402 | 7652 | 602667 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 0 | | 2402 | 7652 | 602667 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 226 | 7989 | 164790 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 212 | 7989 | 164790 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 226 | 7989 | 164790 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 226 | 7989 | 164790 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 212 | 7989 | 164790 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 212 | 7989 | 164790 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 0 | | 2988 | 9585 | 601309 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 0 | | 2628 | 9585 | 601309 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 0 | | 2988 | 9585 | 601309 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 0 | | 2988 | 9585 | 601309 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 0 | | 2628 | 9585 | 601309 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 0 | | 2628 | 9585 | 601309 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | TRIP13 CL E G H | 9319 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 219 | 12307 | 604507 |
HP:0002859 | HP:0006743 | Embryonal rhabdomyosarcoma | 1 | TRIP13 CL E G H | 9319 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 213 | 12307 | 604507 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | TRIP13 CL E G H | 9319 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 219 | 12307 | 604507 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | TRIP13 CL E G H | 9319 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 219 | 12307 | 604507 |
HP:0002859 | HP:0006779 | Alveolar rhabdomyosarcoma | 1 | TRIP13 CL E G H | 9319 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 213 | 12307 | 604507 |
HP:0002859 | HP:0500092 | Orbital rhabdomyosarcoma | 1 | TRIP13 CL E G H | 9319 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 0 | | 213 | 12307 | 604507 |