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| Term | Charcot-Marie-Tooth disease type 4B1 | ID (Ontology) | DOID:0110191 (Human Disease) | |||||||||||||||||||||||||||
| Definition | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). | |||||||||||||||||||||||||||||
| Also Known As | "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" ; "Charcot-Marie-Tooth neuropathy type 4B1" ; "CMT4B1" | |||||||||||||||||||||||||||||
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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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autosomal genetic disease |__autosomal recessive disease_________ Charcot-Marie-Tooth disease | |__Charcot-Marie-Tooth disease type 4__| Charcot-Marie-Tooth disease type 4B1 24 rec. |
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Relationships
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| Is a |
Charcot-Marie-Tooth disease type 4 autosomal recessive disease |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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ICD10CM:G60.0 MESH:C535420 MIM:601382 ORDO:99955 |
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