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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009729HP:0009729Cardiac rhabdomyoma0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0009729HP:0009729Cardiac rhabdomyoma0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0009729HP:0009729Cardiac rhabdomyoma0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0009729HP:0009729Cardiac rhabdomyoma0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0009729HP:0009729Cardiac rhabdomyoma0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0009729HP:0009729Cardiac rhabdomyoma0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0009729HP:0009729Cardiac rhabdomyoma0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0009729HP:0009729Cardiac rhabdomyoma0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0009729HP:0009729Cardiac rhabdomyoma0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0009729HP:0009729Cardiac rhabdomyoma0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738


Genes (7) :IFNG PTCH1 PTCH2 SOX6 SUFU TSC1 TSC2

Diseases (5) :ORPHA:805 OMIM:613254 OMIM:109400 OMIM:618971 OMIM:191100
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.