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
..Symmetric peripheral demyelination (HP:0007262)

Term ID:

7262

Name:

Symmetric peripheral demyelination

Synonym:

Definition:

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

Comments:

Reference:

HP:0007262

Genes and Diseases:

Child Nodes:

........

Symmetrical progressive peripheral demyelination (HP:0006873)

Sister Nodes:

Asymmetric peripheral demyelination (HP:0030176)

Diffuse peripheral demyelination (HP:0006881)

Segmental peripheral demyelination (HP:0007107)

Segmental peripheral demyelination/remyelination (HP:0003481)

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:0007262	HP:0007262	Symmetric peripheral demyelination	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0007262	HP:0007262	Symmetric peripheral demyelination	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0007262	HP:0006873	Symmetrical progressive peripheral demyelination	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115

Genes (2) :GCDH LMNB1

Diseases (2) :OMIM:231670 OMIM:169500

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