| Metadata | |
|---|---|
| ID | DOID:0111557 |
| Name | Charcot-Marie-Tooth disease type 2A2B |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. https://www.ncbi.nlm.nih.gov/pubmed/21715711 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AR-CMT2, Ouvrier type [EXACT] autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type [EXACT] Charcot-Marie-Tooth disease, axonal, type 2A2B [EXACT] CMT2A2B [EXACT] SEOAN due to MFN2 deficiency [EXACT] severe early-onset axonal neuropathy due to MFN2 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |