Term Name: | Charcot-Marie-Tooth disease type 4H |
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Synonyms: | autosomal recessive Charcot-Marie-Tooth disease type 4H, autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth neuropathy type 4H, CMT4H |
Definition: | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). |
Ontology: | Human Disease [DOID:0110192] ( DOID:0110192 ) |