| Metadata | |
|---|---|
| ID | DOID:0110169 |
| Name | Charcot-Marie-Tooth disease axonal type 2P |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. https://www.ncbi.nlm.nih.gov/pubmed/20865121 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Charcot-Marie-Tooth disease type 2P [EXACT] Charcot-Marie-Tooth neuropathy type 2P [EXACT] CMT2P [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease |