OBO ID: DOID:0111558 |
Term Name: | Charcot-Marie-Tooth disease type 2DD | Search Ontology: | |
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Definition: | A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. https://www.ncbi.nlm.nih.gov/pubmed/29499166 | ||
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Ontology: | Human Disease ( DOID:0111558 ) |
OTHER Charcot-Marie-Tooth disease type 2DD PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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