| Metadata | |
|---|---|
| ID | DOID:0110186 |
| Name | Charcot-Marie-Tooth disease type 4D |
| Definition | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. https://www.ncbi.nlm.nih.gov/pubmed/10831399 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D [EXACT] Charcot-Marie-Tooth neuropathy type 4D [EXACT] CMT4D [EXACT] hereditary motor and sensory neuropathy LOM type [EXACT] HMSN Lom type [EXACT] HMSN-Lom [EXACT] HMSN4D [EXACT] HMSNL [EXACT] |
| Parent Relationships |