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
..Irregular myelin loops (HP:0007208)

Term ID:

7208

Name:

Irregular myelin loops

Synonym:

Definition:

Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.

Comments:

Reference:

HP:0007208

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased peripheral myelin thickness (HP:0030174)

Myelin outfoldings (HP:0004336)

Myelin tomacula (HP:0030175)

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:0007208	HP:0007208	Irregular myelin loops	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.	88

Genes (1) :MTMR2

Diseases (1) :OMIM:601382

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