FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Charcot-Marie-Tooth disease type 4E ID (Ontology) DOID:0110195 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23.
Also Known As "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" ; "Charcot-Marie-Tooth neuropathy type 4E" ; "CMT4E" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 Charcot-Marie-Tooth disease type 4E       1
 for disease ribbon | Charcot-Marie-Tooth disease type 4E       1
 model of | Charcot-Marie-Tooth disease type 4E       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__________
 |__autosomal recessive disease_________|
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type 4__|
                                        Charcot-Marie-Tooth disease type 4E  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a Charcot-Marie-Tooth disease type 4
autosomal dominant disease
autosomal recessive disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" EXACT
    "Charcot-Marie-Tooth neuropathy type 4E" EXACT
    "CMT4E" EXACT OMO:0003012
    "Neuropathy, congenital hypomyelinating, 1" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:G60.0
MIM:605253
ORDO:99951