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Charcot-Marie-Tooth disease type 4D
Summary
- Synonym
-
- CMT4D
- Charcot-Marie-Tooth neuropathy type 4D
- HMSN Lom type
- HMSN-Lom
- HMSN4D
- HMSNL
- autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D
- hereditary motor and sensory neuropathy LOM type
- 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.
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110186
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92597 | Protein NDRG1 |
