Metadata | |
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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 recessive disease |