Search Ontology:
Human Disease
Charcot-Marie-Tooth disease type 4A
- Term ID
- DOID:0110185
- Synonyms
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- autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth neuropathy type 4A
- CMT4A
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/11743579
- References
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- ICD10CM:G60.0
- MESH:C535419
- MIM:214400
- ORDO:99948
- Ontology
- Human Disease ( DOID:0110185 )
- is a type of
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Genes Involved
Zebrafish Models