| Metadata | |
|---|---|
| ID | DOID:0110160 |
| Name | Charcot-Marie-Tooth disease axonal type 2T |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. https://www.ncbi.nlm.nih.gov/pubmed/26991897 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AR-CMT2T [EXACT] autosomal recessive axonal Charcot-Marie-Tooth disease type 2T [EXACT] Charcot-Marie-Tooth neuropathy type 2T [EXACT] CMT2T [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |