Search Ontology:
Human Disease
Charcot-Marie-Tooth disease type 2KK
- Term ID
- DOID:0061251
- Synonyms
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- Definition
- A Charcot-Marie-Tooth disease type 2 characterized by motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia that has_material_basis_in homozygous mutation in the ARHGAP19 gene on chromosome 10q24. https://pubmed.ncbi.nlm.nih.gov/41086021/
- References
- Ontology
- Human Disease ( DOID:0061251 )
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Genes Involved
Zebrafish Models