Human Phenotype Ontology 
Grandparent Node:
expand
Sarcoma (HP:0100242)help
Parent Node:
expand
Neoplasm of striated muscle (HP:0009728)help
Parent Node:
expand
Soft tissue sarcoma (HP:0030448)help
..Starting node
..expand
Rhabdomyosarcoma (HP:0002859)help
Term ID: 2859
Name: Rhabdomyosarcoma
Synonym:
Definition:
Comments:
Reference: HP:0002859
Genes and Diseases:
 
       Child Nodes:
........expandEmbryonal rhabdomyosarcoma (HP:0006743) help
........expandAlveolar rhabdomyosarcoma (HP:0006779) help
........expandOrbital rhabdomyosarcoma (HP:0500092) help

 Sister Nodes: 
..expandAlveolar soft part sarcoma (HP:0012218) help
..expandAngiosarcoma (HP:0200058) help
..expandFibroma (HP:0010614) help
..expandFibrosarcoma (HP:0100244) help
..expandLeiomyosarcoma (HP:0100243) help
..expandNeurofibrosarcoma (HP:0100697) help
..expandSynovial sarcoma (HP:0012570) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002859HP:0002859Rhabdomyosarcoma0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1291149602860
HP:0002859HP:0002859Rhabdomyosarcoma0DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM114517098606241
HP:0002859HP:0002859Rhabdomyosarcoma0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1345173190020
HP:0002859HP:0002859Rhabdomyosarcoma0MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM112037127120436
HP:0002859HP:0002859Rhabdomyosarcoma0MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM112647325609309
HP:0002859HP:0002859Rhabdomyosarcoma0MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM16027329600678
HP:0002859HP:0002859Rhabdomyosarcoma0NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM11487652602667
HP:0002859HP:0002859Rhabdomyosarcoma0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM130117765613113
HP:0002859HP:0002859Rhabdomyosarcoma0PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM13639122600259
HP:0002859HP:0002859Rhabdomyosarcoma1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1291149602860
HP:0002859HP:0002859Rhabdomyosarcoma1DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM114517098606241
HP:0002859HP:0002859Rhabdomyosarcoma1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1345173190020
HP:0002859HP:0002859Rhabdomyosarcoma1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM112037127120436
HP:0002859HP:0002859Rhabdomyosarcoma1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM112647325609309
HP:0002859HP:0002859Rhabdomyosarcoma1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM16027329600678
HP:0002859HP:0002859Rhabdomyosarcoma1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM11487652602667
HP:0002859HP:0002859Rhabdomyosarcoma1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM130117765613113
HP:0002859HP:0002859Rhabdomyosarcoma1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM13639122600259
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002859HP:0002859Rhabdomyosarcoma0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0201148602452
HP:0002859HP:0002859Rhabdomyosarcoma0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA0291149602860
HP:0002859HP:0002859Rhabdomyosarcoma0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA061151603719
HP:0002859HP:0002859Rhabdomyosarcoma0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA0530794607951
HP:0002859HP:0002859Rhabdomyosarcoma0MC1R CL E G H4157626ORPHA01096929155555
HP:0002859HP:0002859Rhabdomyosarcoma0NBN CL E G H4683647ORPHA01487652602667
HP:0002859HP:0002859Rhabdomyosarcoma0NRAS CL E G H4893626ORPHA0147989164790
HP:0002859HP:0002859Rhabdomyosarcoma0PTCH1 CL E G H572777301ORPHA05299585601309
HP:0002859HP:0002859Rhabdomyosarcoma0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA0212307604507
HP:0002859HP:0002859Rhabdomyosarcoma1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0201148602452
HP:0002859HP:0002859Rhabdomyosarcoma1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA0291149602860
HP:0002859HP:0002859Rhabdomyosarcoma1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA061151603719
HP:0002859HP:0002859Rhabdomyosarcoma1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA0530794607951
HP:0002859HP:0002859Rhabdomyosarcoma1MC1R CL E G H4157626ORPHA01096929155555
HP:0002859HP:0002859Rhabdomyosarcoma1NBN CL E G H4683647ORPHA01487652602667
HP:0002859HP:0002859Rhabdomyosarcoma1NRAS CL E G H4893626ORPHA0147989164790
HP:0002859HP:0002859Rhabdomyosarcoma1PTCH1 CL E G H572777301ORPHA05299585601309
HP:0002859HP:0002859Rhabdomyosarcoma1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA0212307604507


Genes (21) :BUB1 BUB1B BUB3 CEP57 DICER1 FOXO1 HRAS KEAP1 MC1R MLH1 MSH2 MSH6 NBN NF1 NRAS PAX3 PAX7 PMS2 PTCH1 SLC22A18 TRIP13

Diseases (14) :1052 257300 601200 218040 626 276300 647 251260 162200 77301 276399 180295 268220 268210
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.