| Metadata | |
|---|---|
| ID | DOID:0110195 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110195 Copy |
| Name | congenital hypomyelinating neuropathy 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 |
| Xrefs |
SNOMEDCT_US_2025_09_01:763135001 |
| SKOS |
exactMatch ORDO:99951 exactMatch MIM:605253 exactMatch UMLS_CUI:C4721437 broadMatch ICD10CM:G60.0 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive congenital hypomyelinating or amyelinating neuropathy [EXACT] Charcot-Marie-Tooth disease type 4E [EXACT] Charcot-Marie-Tooth neuropathy type 4E [EXACT] CHN1 [EXACT] CMT4E [EXACT] Neuropathy, congenital hypomyelinating, 1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a Charcot-Marie-Tooth disease type 4 |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |