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)

Parent Node:
Peripheral neuropathy (HP:0009830)

..Starting node
..Mononeuropathy (HP:0009831)

Term ID:

9831

Name:

Mononeuropathy

Synonym:

Single damaged nerve

Definition:

A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.

Comments:

Reference:

HP:0009831

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute episodes of neuropathic symptoms (HP:0003489)

Chronic sensorineural polyneuropathy (HP:0001301)

Congenital peripheral neuropathy (HP:0006903)

Demyelinating peripheral neuropathy (HP:0007108)

Entrapment neuropathy (HP:0012181)

Episodic peripheral neuropathy (HP:0006949)

Mixed demyelinating and axonal polyneuropathy (HP:0007327)

Motor polyneuropathy (HP:0007178)

Peripheral axonal neuropathy (HP:0003477)

Polyneuropathy (HP:0001271)

Progressive peripheral neuropathy (HP:0007133)

Sensorimotor neuropathy (HP:0007141)

Sensorimotor polyneuropathy affecting arms more than legs (HP:0006865)

Sensory neuropathy (HP:0000763)

Somatic sensory dysfunction (HP:0003474)

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:0009831	HP:0009831	Mononeuropathy	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0009831	HP:0009831	Mononeuropathy	0	SH3TC2 CL E G H	79628	29427	OMIM:613353	Mononeuropathy of the median nerve, mild	.	493

Genes (2) :NF2 SH3TC2

Diseases (2) :ORPHA:637 OMIM:613353

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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