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Metadata
ID DOID:0051028
Name autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis
Definition A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.
https://pubmed.ncbi.nlm.nih.gov/15358725/
Xrefs

MIM:607706

Parent Relationships

is_a Charcot-Marie-Tooth disease type 4

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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