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:
Abnormality of peripheral nerves (HP:0045010)

..Starting node
..Enlarged peripheral nerve (HP:0012645)

Term ID:

12645

Name:

Enlarged peripheral nerve

Synonym:

Enlarged peripheral nerves

Definition:

Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.

Comments:

Reference:

HP:0012645

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal glossopharyngeal nerve morphology (HP:3000047)

Abnormal great auricular nerve morphology (HP:3000048)

Abnormal lingual nerve morphology (HP:3000075)

Abnormality of inferior alveolar nerve (HP:3000055)

Abnormality of infra-orbital nerve (HP:3000061)

Abnormality of peripheral nerve conduction (HP:0003134)

Amyloidosis of peripheral nerves (HP:0100292)

Palmar neurofibromas (HP:0007576)

Peripheral nerve compression (HP:0003406)

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:0012645	HP:0012645	Enlarged peripheral nerve	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645

Genes (1) :LMNA

Diseases (1) :OMIM:151660

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