Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of the peripheral nervous system (HP:0100007)help
Parent Node:
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Neoplasm of the autonomic nervous system (HP:0030450)help
..Starting node
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Ganglioneuroma (HP:0003005)help
Term ID: 3005
Name: Ganglioneuroma
Synonym:
Definition: A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.
Comments:
Reference: HP:0003005
Genes and Diseases:
 
       Child Nodes:
........expandPresacral ganglioneuroma (HP:0031455) help

 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:0003005HP:0003005Ganglioneuroma0ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040283 - Occasional15
HP:0003005HP:0003005Ganglioneuroma0BDNF CL E G H6271033ORPHA:661Ondine syndromeHP:0040283 - Occasional5
HP:0003005HP:0003005Ganglioneuroma0EDN3 CL E G H19083178ORPHA:661Ondine syndromeHP:0040283 - Occasional67
HP:0003005HP:0003005Ganglioneuroma0GDNF CL E G H26684232ORPHA:661Ondine syndromeHP:0040283 - Occasional59
HP:0003005HP:0003005Ganglioneuroma0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0003005HP:0003005Ganglioneuroma0MYO1H CL E G H28344613879ORPHA:661Ondine syndromeHP:0040283 - Occasional
HP:0003005HP:0003005Ganglioneuroma0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease.86
HP:0003005HP:0003005Ganglioneuroma0PHOX2B CL E G H89299143ORPHA:99803Haddad syndromeHP:0040283 - Occasional86
HP:0003005HP:0003005Ganglioneuroma0PHOX2B CL E G H89299143OMIM:613013Neuroblastoma, susceptibility to, 286
HP:0003005HP:0003005Ganglioneuroma0PHOX2B CL E G H89299143ORPHA:661Ondine syndromeHP:0040283 - Occasional86
HP:0003005HP:0003005Ganglioneuroma0RET CL E G H59799967ORPHA:99803Haddad syndromeHP:0040283 - Occasional572
HP:0003005HP:0003005Ganglioneuroma0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0003005HP:0031455Presacral ganglioneuroma1 CL E G H


Genes (8) :ASCL1 BDNF EDN3 GDNF KIF1B MYO1H PHOX2B RET

Diseases (6) :ORPHA:99803 ORPHA:661 OMIM:256700 OMIM:209880 OMIM:613013 OMIM:162300
 

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