Metadata | |
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ID | DOID:0110162 |
Name | Charcot-Marie-Tooth disease, axonal type 2W |
Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. https://www.ncbi.nlm.nih.gov/pubmed/22930593 |
Xrefs | |
Synonyms |
autosomal dominant axonal Charcot-Marie-Tooth disease type 2W [EXACT] Charcot-Marie-Tooth neuropathy type 2W [EXACT] CMT2W [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |