Human Phenotype Ontology 
Grandparent Node:
expand
Peripheral neuropathy (HP:0009830)help
Parent Node:
expand
Demyelinating peripheral neuropathy (HP:0007108)help
Parent Node:
expand
Motor polyneuropathy (HP:0007178)help
..Starting node
..expand
Demyelinating motor neuropathy (HP:0007220)help
Term ID: 7220
Name: Demyelinating motor neuropathy
Synonym:
Definition: Demyelination of peripheral motor nerves.
Comments:
Reference: HP:0007220
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007220HP:0007220Demyelinating motor neuropathy0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0007220HP:0007220Demyelinating motor neuropathy0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040281 - Very frequent118
HP:0007220HP:0007220Demyelinating motor neuropathy0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040281 - Very frequent118
HP:0007220HP:0007220Demyelinating motor neuropathy0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040282 - Frequent
HP:0007220HP:0007220Demyelinating motor neuropathy0TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive18


Genes (4) :GJC2 NEFL SELENOI TFG

Diseases (5) :OMIM:608804 ORPHA:99939 ORPHA:101085 ORPHA:506353 OMIM:615658
 

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