Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of striated muscle (HP:0009728)help
Parent Node:
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Neoplasm of the heart (HP:0100544)help
Parent Node:
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Rhabdomyoma (HP:0009730)help
..Starting node
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Cardiac rhabdomyoma (HP:0009729)help
Term ID: 9729
Name: Cardiac rhabdomyoma
Synonym:
Definition: A benign tumor of cardiac striated muscle.
Comments:
Reference: HP:0009729
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009729HP:0009729Cardiac rhabdomyoma0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM15299585601309
HP:0009729HP:0009729Cardiac rhabdomyoma0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1119586603673
HP:0009729HP:0009729Cardiac rhabdomyoma0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14716466607035
HP:0009729HP:0009729Cardiac rhabdomyoma0TSC1 CL E G H7248191100Tuberous sclerosis 1191100C1854465OMIM140412362605284
HP:0009729HP:0009729Cardiac rhabdomyoma0TSC2 CL E G H7249613254Tuberous sclerosis 2613254C1860707OMIM1126912363191092
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009729HP:0009729Cardiac rhabdomyoma0TSC1 CL E G H7248805ORPHA040412362605284
HP:0009729HP:0009729Cardiac rhabdomyoma0TSC2 CL E G H7249805ORPHA0126912363191092


Genes (5) :PTCH1 PTCH2 SUFU TSC1 TSC2

Diseases (4) :109400 805 191100 613254
 

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