Human Phenotype Ontology 
Grandparent Node:
expandAbnormal myelination (HP:0012447)help
Grandparent Node:
expandAbnormal peripheral nervous system morphology (HP:0000759)help
Parent Node:
expandAbnormal peripheral myelination (HP:0003130)help
..Starting node
..expandPeripheral dysmyelination (HP:0003469)help
Term ID: 3469
Name: Peripheral dysmyelination
Synonym:
Definition: Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.
Comments:
Reference: HP:0003469
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased number of peripheral myelinated nerve fibers (HP:0003380) help
..expandDelayed peripheral myelination (HP:0011401) help
..expandOnion bulb formation (HP:0003383) help
..expandPeripheral amyelination (HP:0030172) help
..expandPeripheral demyelination (HP:0011096) help
..expandPeripheral hypermyelination (HP:0030173) help
..expandPeripheral hypomyelination (HP:0007182) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003469HP:0003469Peripheral dysmyelination0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0003469HP:0003469Peripheral dysmyelination0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0003469HP:0003469Peripheral dysmyelination0MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1BHP:0040282 - Frequent134
HP:0003469HP:0003469Peripheral dysmyelination0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1


Genes (4) :ERCC6 ERCC8 MPZ ZNHIT3

Diseases (4) :OMIM:133540 OMIM:216400 ORPHA:101082 OMIM:260565
 

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