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 myelination (HP:0012447)

Grandparent Node:
Abnormal peripheral nervous system morphology (HP:0000759)

Parent Node:
Abnormal peripheral myelination (HP:0003130)

..Starting node
..Peripheral amyelination (HP:0030172)

Term ID:

30172

Name:

Peripheral amyelination

Synonym:

Definition:

Congenital absence of the myelin sheath on a nerve.

Comments:

Reference:

HP:0030172

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased number of peripheral myelinated nerve fibers (HP:0003380)

Delayed peripheral myelination (HP:0011401)

Onion bulb formation (HP:0003383)

Peripheral demyelination (HP:0011096)

Peripheral dysmyelination (HP:0003469)

Peripheral hypermyelination (HP:0030173)

Peripheral hypomyelination (HP:0007182)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030172	HP:0030172	Peripheral amyelination	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.