Charcot-Marie-Tooth Disease Type 2A2B

Preferred Label : Charcot-Marie-Tooth Disease Type 2A2B;

NCIt synonyms : CMT2A2B;

NCIt definition : An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.;

NCI Metathesaurus CUI : CL552385;

Details

Origin ID

C150647;

UMLS CUI

C4310725;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 2A2B [DO Concept]
- Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b [OMIM Phenotype]
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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b [OMIM Phenotype]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt 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]
disease_mapped_to_gene
- MFN2 Gene [NCIt concept]

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