Charcot-Marie-Tooth Disease Type 1C

Preferred Label : Charcot-Marie-Tooth Disease Type 1C;

NCIt synonyms : CMT1C; Charcot-Marie-Tooth Disease, Demyelinating, Type 1C;

NCIt related terms : Charcot-Marie-Tooth disease, type IC;

NCIt definition : Charcot-Marie-Tooth disease caused by autosomal dominant mutation(s) in the LITAF gene, encoding lipopolysaccharide-induced tumor necrosis factor-alpha factor. It is characterized by distal muscle weakness, atrophy, and depressed deep tendon reflexes.;

Détails

Origin ID

C217417;

Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- LITAF Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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