Metadata | |
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ID | DOID:0110185 |
Name | Charcot-Marie-Tooth disease type 4A |
Definition | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/11743579 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A [EXACT] Charcot-Marie-Tooth neuropathy type 4A [EXACT] CMT4A [EXACT] |
Parent Relationships |