| Metadata | |
|---|---|
| ID | DOID:0110192 |
| Name | Charcot-Marie-Tooth disease type 4H |
| Definition | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). https://www.ncbi.nlm.nih.gov/pubmed/15744041, https://www.ncbi.nlm.nih.gov/pubmed/17564959 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive Charcot-Marie-Tooth disease type 4H [EXACT] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H [EXACT] Charcot-Marie-Tooth neuropathy type 4H [EXACT] CMT4H [EXACT] |
| Parent Relationships |