OBO ID: DOID:0110157 |
Term Name: | Charcot-Marie-Tooth disease type 2J | Search Ontology: | |
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Definition: | A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. https://www.ncbi.nlm.nih.gov/pubmed/10071056 | ||
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Ontology: | Human Disease ( DOID:0110157 ) |
OTHER Charcot-Marie-Tooth disease type 2J PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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