Charcot-Marie-Tooth Neuropathy X Type 1

Preferred Label : Charcot-Marie-Tooth Neuropathy X Type 1;

NCIt synonyms : CMTX1;

NCIt definition : Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.;

Details

Origin ID

C129068;

UMLS CUI

C0393808;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease X-linked dominant 1 [DO Concept]
- Charcot-Marie-Tooth disease, X-linked, 1 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, X-linked, 1 [MeSH concept]
- Charcot-marie-tooth disease, X-linked dominant, 1 [OMIM Phenotype]
- X-linked Charcot-Marie-Tooth disease type 1 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 1 (disorder) [SNOMED CT 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)
- gap junction protein beta 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease X-linked dominant 1 [DO Concept]
- Charcot-Marie-Tooth disease, X-linked, 1 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, X-linked, 1 [MeSH concept]
- Charcot-marie-tooth disease, X-linked dominant, 1 [OMIM Phenotype]
- X-linked Charcot-Marie-Tooth disease type 1 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 1 (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus 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
- GJB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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