Human Phenotype Ontology 
Grandparent Node:
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Sarcoma (HP:0100242)help
Parent Node:
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Neoplasm of striated muscle (HP:0009728)help
Parent Node:
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Soft tissue sarcoma (HP:0030448)help
..Starting node
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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 1257300CN031748OMIM16171149602860
HP:0002859HP:0002859Rhabdomyosarcoma0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0002859HP:0002859Rhabdomyosarcoma0DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM1388817098606241
HP:0002859HP:0002859Rhabdomyosarcoma0DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM1344017098606241
HP:0002859HP:0002859Rhabdomyosarcoma0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14675173190020
HP:0002859HP:0002859Rhabdomyosarcoma0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14115173190020
HP:0002859HP:0002859Rhabdomyosarcoma0MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM137637127120436
HP:0002859HP:0002859Rhabdomyosarcoma0MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM135407127120436
HP:0002859HP:0002859Rhabdomyosarcoma0MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM149647325609309
HP:0002859HP:0002859Rhabdomyosarcoma0MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM146077325609309
HP:0002859HP:0002859Rhabdomyosarcoma0MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM162197329600678
HP:0002859HP:0002859Rhabdomyosarcoma0MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM157177329600678
HP:0002859HP:0002859Rhabdomyosarcoma0NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM126407652602667
HP:0002859HP:0002859Rhabdomyosarcoma0NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM124027652602667
HP:0002859HP:0002859Rhabdomyosarcoma0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM191517765613113
HP:0002859HP:0002859Rhabdomyosarcoma0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM180607765613113
HP:0002859HP:0002859Rhabdomyosarcoma0PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM134219122600259
HP:0002859HP:0002859Rhabdomyosarcoma0PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM131549122600259
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM16171149602860
HP:0002859HP:0500092Orbital rhabdomyosarcoma1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM16171149602860
HP:0002859HP:0500092Orbital rhabdomyosarcoma1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM16171149602860
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM1388817098606241
HP:0002859HP:0500092Orbital rhabdomyosarcoma1DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM1388817098606241
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM1344017098606241
HP:0002859HP:0500092Orbital rhabdomyosarcoma1DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM1344017098606241
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM1388817098606241
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM1344017098606241
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14675173190020
HP:0002859HP:0500092Orbital rhabdomyosarcoma1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14675173190020
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14115173190020
HP:0002859HP:0500092Orbital rhabdomyosarcoma1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14115173190020
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14675173190020
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14115173190020
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM137637127120436
HP:0002859HP:0500092Orbital rhabdomyosarcoma1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM137637127120436
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM135407127120436
HP:0002859HP:0500092Orbital rhabdomyosarcoma1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM135407127120436
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM137637127120436
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM135407127120436
HP:0002859HP:0500092Orbital rhabdomyosarcoma1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM149647325609309
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM149647325609309
HP:0002859HP:0500092Orbital rhabdomyosarcoma1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM146077325609309
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM146077325609309
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM149647325609309
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM146077325609309
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM162197329600678
HP:0002859HP:0500092Orbital rhabdomyosarcoma1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM162197329600678
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM157177329600678
HP:0002859HP:0500092Orbital rhabdomyosarcoma1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM157177329600678
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM162197329600678
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM157177329600678
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM126407652602667
HP:0002859HP:0500092Orbital rhabdomyosarcoma1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM126407652602667
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM124027652602667
HP:0002859HP:0500092Orbital rhabdomyosarcoma1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM124027652602667
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM126407652602667
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM124027652602667
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM191517765613113
HP:0002859HP:0500092Orbital rhabdomyosarcoma1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM191517765613113
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM180607765613113
HP:0002859HP:0500092Orbital rhabdomyosarcoma1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM180607765613113
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM191517765613113
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM180607765613113
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM134219122600259
HP:0002859HP:0500092Orbital rhabdomyosarcoma1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM134219122600259
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM131549122600259
HP:0002859HP:0500092Orbital rhabdomyosarcoma1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM131549122600259
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM134219122600259
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM131549122600259
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002859HP:0002859Rhabdomyosarcoma0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0881148602452
HP:0002859HP:0002859Rhabdomyosarcoma0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0861148602452
HP:0002859HP:0002859Rhabdomyosarcoma0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA06171149602860
HP:0002859HP:0002859Rhabdomyosarcoma0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA05111149602860
HP:0002859HP:0002859Rhabdomyosarcoma0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA0511151603719
HP:0002859HP:0002859Rhabdomyosarcoma0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA027530794607951
HP:0002859HP:0002859Rhabdomyosarcoma0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA021230794607951
HP:0002859HP:0002859Rhabdomyosarcoma0MC1R CL E G H4157626ORPHA04286929155555
HP:0002859HP:0002859Rhabdomyosarcoma0MC1R CL E G H4157626ORPHA03766929155555
HP:0002859HP:0002859Rhabdomyosarcoma0NBN CL E G H4683647ORPHA026407652602667
HP:0002859HP:0002859Rhabdomyosarcoma0NBN CL E G H4683647ORPHA024027652602667
HP:0002859HP:0002859Rhabdomyosarcoma0NRAS CL E G H4893626ORPHA02267989164790
HP:0002859HP:0002859Rhabdomyosarcoma0NRAS CL E G H4893626ORPHA02127989164790
HP:0002859HP:0002859Rhabdomyosarcoma0PTCH1 CL E G H572777301ORPHA029889585601309
HP:0002859HP:0002859Rhabdomyosarcoma0PTCH1 CL E G H572777301ORPHA026289585601309
HP:0002859HP:0002859Rhabdomyosarcoma0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA021912307604507
HP:0002859HP:0002859Rhabdomyosarcoma0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA021312307604507
HP:0002859HP:0500092Orbital rhabdomyosarcoma1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0881148602452
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0881148602452
HP:0002859HP:0500092Orbital rhabdomyosarcoma1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0861148602452
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0861148602452
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0881148602452
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA0861148602452
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA06171149602860
HP:0002859HP:0500092Orbital rhabdomyosarcoma1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA06171149602860
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA05111149602860
HP:0002859HP:0500092Orbital rhabdomyosarcoma1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA05111149602860
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA06171149602860
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA05111149602860
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA0511151603719
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA0511151603719
HP:0002859HP:0500092Orbital rhabdomyosarcoma1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA0511151603719
HP:0002859HP:0500092Orbital rhabdomyosarcoma1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA027530794607951
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA027530794607951
HP:0002859HP:0500092Orbital rhabdomyosarcoma1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA021230794607951
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA021230794607951
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA027530794607951
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA021230794607951
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1MC1R CL E G H4157626ORPHA04286929155555
HP:0002859HP:0500092Orbital rhabdomyosarcoma1MC1R CL E G H4157626ORPHA04286929155555
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1MC1R CL E G H4157626ORPHA03766929155555
HP:0002859HP:0500092Orbital rhabdomyosarcoma1MC1R CL E G H4157626ORPHA03766929155555
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1MC1R CL E G H4157626ORPHA04286929155555
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1MC1R CL E G H4157626ORPHA03766929155555
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1NBN CL E G H4683647ORPHA026407652602667
HP:0002859HP:0500092Orbital rhabdomyosarcoma1NBN CL E G H4683647ORPHA026407652602667
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1NBN CL E G H4683647ORPHA024027652602667
HP:0002859HP:0500092Orbital rhabdomyosarcoma1NBN CL E G H4683647ORPHA024027652602667
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1NBN CL E G H4683647ORPHA026407652602667
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1NBN CL E G H4683647ORPHA024027652602667
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1NRAS CL E G H4893626ORPHA02267989164790
HP:0002859HP:0500092Orbital rhabdomyosarcoma1NRAS CL E G H4893626ORPHA02267989164790
HP:0002859HP:0500092Orbital rhabdomyosarcoma1NRAS CL E G H4893626ORPHA02127989164790
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1NRAS CL E G H4893626ORPHA02127989164790
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1NRAS CL E G H4893626ORPHA02267989164790
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1NRAS CL E G H4893626ORPHA02127989164790
HP:0002859HP:0500092Orbital rhabdomyosarcoma1PTCH1 CL E G H572777301ORPHA029889585601309
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1PTCH1 CL E G H572777301ORPHA029889585601309
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1PTCH1 CL E G H572777301ORPHA026289585601309
HP:0002859HP:0500092Orbital rhabdomyosarcoma1PTCH1 CL E G H572777301ORPHA026289585601309
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1PTCH1 CL E G H572777301ORPHA029889585601309
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1PTCH1 CL E G H572777301ORPHA026289585601309
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA021912307604507
HP:0002859HP:0500092Orbital rhabdomyosarcoma1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA021912307604507
HP:0002859HP:0006779Alveolar rhabdomyosarcoma1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA021312307604507
HP:0002859HP:0500092Orbital rhabdomyosarcoma1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA021312307604507
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA021912307604507
HP:0002859HP:0006743Embryonal rhabdomyosarcoma1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA021312307604507


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 August 2021 release.