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General Information
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| Term |
autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis |
ID (Ontology) |
DOID:0051028 (Human Disease) |
| 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. |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis | 1 | for disease ribbon | autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis | 1 | model of | autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis | 1 |
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Relationships