Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Neoplasm of striated muscle (HP:0009728)help
..Starting node
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Rhabdomyoma (HP:0009730)help
Term ID: 9730
Name: Rhabdomyoma
Synonym:
Definition: A benign tumor of striated muscle.
Comments:
Reference: HP:0009730
Genes and Diseases:
 
       Child Nodes:
........expandCardiac rhabdomyoma (HP:0009729) help

 Sister Nodes: 
..expandRhabdomyosarcoma (HP:0002859) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009730HP:0009730Rhabdomyoma0 CL E G H
HP:0009730HP:0009730Rhabdomyoma1 CL E G H


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.