| Metadata | |
|---|---|
| ID | DOID:0110150 |
| Name | Charcot-Marie-Tooth disease type 1D |
| Definition | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). https://www.ncbi.nlm.nih.gov/pubmed/9537424 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Charcot-Marie-Tooth neuropathy type 1D [EXACT] CMT1D [EXACT] hereditary motor and sensory neuropathy 1D [EXACT] HMSN ID [EXACT] HMSN1D [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |