Charcot-Marie-Tooth Disease Type 2A

Preferred Label : Charcot-Marie-Tooth Disease Type 2A;

NCIt synonyms : CMT2A;

NCIt definition : A sub-type of Charcot-Marie-Tooth caused by mutation(s) in the MFN2 gene, encoding mitofusin-2. It results in peripheral axonal neuropathy.;

Details

Origin ID

C134952;

UMLS CUI

C2079538;

Currated CISMeF NLP mapping
- Charcot Marie Tooth disease type 2A [Disease (Nov.)]
- Charcot-Marie-Tooth disease, Type 2A [MeSH concept]
- Charcot-Marie-Tooth disease, type 2A [MeSH Supplementary Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- kinesin family member 1B [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot Marie Tooth disease type 2A [Disease (Nov.)]
- Charcot-Marie-Tooth disease, Type 2A [MeSH concept]
- Charcot-Marie-Tooth disease, type 2A [MeSH Supplementary Concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
related_to_genetic_biomarker
- MFN2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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