Human Phenotype Ontology

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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:
Abnormal peripheral nervous system morphology (HP:0000759)

Grandparent Node:
Neoplasm of the nervous system (HP:0004375)

Parent Node:
Neoplasm of the peripheral nervous system (HP:0100007)

..Starting node
..Neoplasm of the autonomic nervous system (HP:0030450)

Term ID:

30450

Name:

Neoplasm of the autonomic nervous system

Synonym:

Definition:

A tumor that arises from an element of the autonomic nervous system.

Comments:

Reference:

HP:0030450

Genes and Diseases:

Child Nodes:

........

Ganglioneuroma (HP:0003005)

................... HP:0031455 Presacral ganglioneuroma

Sister Nodes:

Neuroendocrine neoplasm (HP:0100634)

Neurofibromas (HP:0001067)

Neuroma (HP:0030430)

Peripheral neuroepithelioma (HP:0006717)

Schwannoma (HP:0100008)

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:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome		15
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome		5
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome		67
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome		59
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to		202
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome		86
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2		86
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome		86
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome		572
HP:0030450	HP:0030450	Neoplasm of the autonomic nervous system	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0030450	HP:0003005	Ganglioneuroma	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	15
HP:0030450	HP:0003005	Ganglioneuroma	1	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	5
HP:0030450	HP:0003005	Ganglioneuroma	1	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	67
HP:0030450	HP:0003005	Ganglioneuroma	1	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	59
HP:0030450	HP:0003005	Ganglioneuroma	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0030450	HP:0003005	Ganglioneuroma	1	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional
HP:0030450	HP:0003005	Ganglioneuroma	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.	86
HP:0030450	HP:0003005	Ganglioneuroma	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	86
HP:0030450	HP:0003005	Ganglioneuroma	1	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2		86
HP:0030450	HP:0003005	Ganglioneuroma	1	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional	86
HP:0030450	HP:0003005	Ganglioneuroma	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	572
HP:0030450	HP:0003005	Ganglioneuroma	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0030450	HP:0031455	Presacral ganglioneuroma	2	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.

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