Human Phenotype Ontology

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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
..Neuroma (HP:0030430)

Term ID:

30430

Name:

Neuroma

Synonym:

Nerve tumor; Nerve tumour; Pinched nerve

Definition:

A tumor made up of nerve cells and nerve fibers.

Comments:

Reference:

HP:0030430

Genes and Diseases:

Child Nodes:

........

Multiple mucosal neuromas (HP:0031023)

Sister Nodes:

Neoplasm of the autonomic nervous system (HP:0030450)

Neuroendocrine neoplasm (HP:0100634)

Neurofibromas (HP:0001067)

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:0030430	HP:0030430	Neuroma	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	37
HP:0030430	HP:0030430	Neuroma	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	92
HP:0030430	HP:0030430	Neuroma	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0030430	HP:0030430	Neuroma	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040281 - Very frequent	220
HP:0030430	HP:0030430	Neuroma	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040282 - Frequent	21
HP:0030430	HP:0031023	Multiple mucosal neuromas	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952

Genes (5) :CCM2 KRIT1 NF1 NF2 PDCD10

Diseases (3) :ORPHA:221061 ORPHA:97685 ORPHA:637

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