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 demyelination (HP:0011096)

..Starting node
..Segmental peripheral demyelination (HP:0007107)

Term ID:

7107

Name:

Segmental peripheral demyelination

Synonym:

Definition:

A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.

Comments:

Reference:

HP:0007107

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetric peripheral demyelination (HP:0030176)

Diffuse peripheral demyelination (HP:0006881)

Segmental peripheral demyelination/remyelination (HP:0003481)

Symmetric peripheral demyelination (HP:0007262)

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:0007107	HP:0007107	Segmental peripheral demyelination	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	HP:0040283 - Occasional	167
HP:0007107	HP:0007107	Segmental peripheral demyelination	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0007107	HP:0007107	Segmental peripheral demyelination	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0007107	HP:0007107	Segmental peripheral demyelination	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493

Genes (4) :DNM2 GBF1 GDAP1 SH3TC2

Diseases (4) :OMIM:606482 OMIM:606483 OMIM:214400 OMIM:601596

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