| Metadata | |
|---|---|
| ID | DOID:0110195 |
| Name | Charcot-Marie-Tooth disease type 4E |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15184631, https://www.ncbi.nlm.nih.gov/pubmed/9537424 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive congenital hypomyelinating or amyelinating neuropathy [EXACT] Charcot-Marie-Tooth neuropathy type 4E [EXACT] CMT4E [EXACT] Neuropathy, congenital hypomyelinating, 1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |