Human Phenotype Ontology 
Grandparent Node:
expandAbnormal nervous system morphology (HP:0012639)help
Parent Node:
expandAbnormal peripheral nervous system morphology (HP:0000759)help
..Starting node
..expandHypertrophic nerve changes (HP:0003382)help
Term ID: 3382
Name: Hypertrophic nerve changes
Synonym:
Definition:
Comments:
Reference: HP:0003382
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal anterior horn cell morphology (HP:0006802) help
..expandAbnormal cranial nerve morphology (HP:0001291) help
..expandAbnormal lower motor neuron morphology (HP:0002366) help
..expandAbnormal peripheral myelination (HP:0003130) help
..expandAbnormality of peripheral nerves (HP:0045010) help
..expandDecreased size of nerve terminals (HP:0003443) help
..expandDiffuse axonal swelling (HP:0003405) help
..expandEnhanced neurotoxicity of vincristine (HP:0003009) help
..expandMinifascicle formation (HP:0031001) help
..expandNeoplasm of the peripheral nervous system (HP:0100007) help
..expandNeuritis (HP:0031002) help
..expandPeripheral axonal degeneration (HP:0000764) help
..expandPeripheral neuropathy (HP:0009830) 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:0003382HP:0003382Hypertrophic nerve changes0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0003382HP:0003382Hypertrophic nerve changes0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A.108
HP:0003382HP:0003382Hypertrophic nerve changes0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C.74
HP:0003382HP:0003382Hypertrophic nerve changes0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0003382HP:0003382Hypertrophic nerve changes0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0003382HP:0003382Hypertrophic nerve changes0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0003382HP:0003382Hypertrophic nerve changes0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0003382HP:0003382Hypertrophic nerve changes0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas.79
HP:0003382HP:0003382Hypertrophic nerve changes0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0003382HP:0003382Hypertrophic nerve changes0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas.170


Genes (6) :EGR2 GDAP1 LITAF MPZ PMP22 PRX

Diseases (6) :OMIM:145900 OMIM:214400 OMIM:601098 OMIM:118200 OMIM:180800 OMIM:118220
 

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