Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of striated muscle (HP:0009728)help
Grandparent Node:
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Soft tissue sarcoma (HP:0030448)help
Parent Node:
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Rhabdomyosarcoma (HP:0002859)help
..Starting node
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Alveolar rhabdomyosarcoma (HP:0006779)help
Term ID: 6779
Name: Alveolar rhabdomyosarcoma
Synonym:
Definition:
Comments:
Reference: HP:0006779
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEmbryonal rhabdomyosarcoma (HP:0006743) help
..expandOrbital rhabdomyosarcoma (HP:0500092) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006779HP:0006779Alveolar rhabdomyosarcoma0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040284 - Very rare670
HP:0006779HP:0006779Alveolar rhabdomyosarcoma0FOXO1 CL E G H23083819OMIM:268220Rhabdomyosarcoma 2, alveolar.1
HP:0006779HP:0006779Alveolar rhabdomyosarcoma0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040284 - Very rare
HP:0006779HP:0006779Alveolar rhabdomyosarcoma0PAX3 CL E G H50778617OMIM:268220Rhabdomyosarcoma 2, alveolar.59
HP:0006779HP:0006779Alveolar rhabdomyosarcoma0PAX7 CL E G H50818621OMIM:268220Rhabdomyosarcoma 2, alveolar.


Genes (5) :DICER1 FOXO1 KEAP1 PAX3 PAX7

Diseases (2) :ORPHA:276399 OMIM:268220
 

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