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 myelination (HP:0003130)

Parent Node:
Peripheral hypermyelination (HP:0030173)

..Starting node
..Increased peripheral myelin thickness (HP:0030174)

Term ID:

30174

Name:

Increased peripheral myelin thickness

Synonym:

Definition:

Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.

Comments:

Reference:

HP:0030174

Genes and Diseases:

Child Nodes:

Sister Nodes:

Irregular myelin loops (HP:0007208)

Myelin outfoldings (HP:0004336)

Myelin tomacula (HP:0030175)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030174	HP:0030174	Increased peripheral myelin thickness	0	CL E G H

Genes (0) :

Diseases (0) :

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