Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Neuroblastic tumor (HP:0004376)

Grandparent Node:
Peripheral primitive neuroectodermal neoplasm (HP:0030067)

Parent Node:
Neuroblastoma (HP:0003006)

..Starting node
..Ganglioneuroblastoma (HP:0006747)

Term ID:

6747

Name:

Ganglioneuroblastoma

Synonym:

Definition:

Comments:

Reference:

HP:0006747

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital neuroblastoma (HP:0006742)

Localized neuroblastoma (HP:0006768)

Olfactory esthesioneuroblastoma (HP:0030068)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006747	HP:0006747	Ganglioneuroblastoma	0	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	5
HP:0006747	HP:0006747	Ganglioneuroblastoma	0	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	67
HP:0006747	HP:0006747	Ganglioneuroblastoma	0	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	59
HP:0006747	HP:0006747	Ganglioneuroblastoma	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0006747	HP:0006747	Ganglioneuroblastoma	0	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional
HP:0006747	HP:0006747	Ganglioneuroblastoma	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0006747	HP:0006747	Ganglioneuroblastoma	0	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome	HP:0040281 - Very frequent	86
HP:0006747	HP:0006747	Ganglioneuroblastoma	0	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2		86
HP:0006747	HP:0006747	Ganglioneuroblastoma	0	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	86

Genes (6) :BDNF EDN3 GDNF KIF1B MYO1H PHOX2B

Diseases (5) :ORPHA:661 OMIM:256700 OMIM:209880 ORPHA:2151 OMIM:613013

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