Metadata | |
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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/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |