Metadata | |
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ID | DOID:0110156 |
Name | Charcot-Marie-Tooth disease type 2B1 |
Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/11799477 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1 [EXACT] autosomal recessive axonal CMT4C1 [EXACT] autosomal recessive Charcot-Marie-Tooth disease type 2B1 [EXACT] Charcot-Marie-Tooth disease neuronal type 2B1 [EXACT] Charcot-Marie-Tooth neuropathy type 2B1 [EXACT] CMT2B1 [EXACT] |
Parent Relationships |