Search Ontology:
Human Disease
congenital hypomyelinating neuropathy 1
- Term ID
- DOID:0110195
- Synonyms
-
- autosomal recessive congenital hypomyelinating or amyelinating neuropathy
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth neuropathy type 4E
- CHN1
- CMT4E
- Neuropathy, congenital hypomyelinating, 1
- Definition
- A congenital hypomyelinating neuropathy that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21. https://www.ncbi.nlm.nih.gov/pubmed/9537424
- References
-
- ICD10CM:G60.0
- MIM:605253
- ORDO:99951
- SNOMEDCT_US_2025_09_01:763135001
- UMLS_CUI:C4721437
- Ontology
- Human Disease ( DOID:0110195 )
Other Pages
Genes Involved
Zebrafish Models