Charcot-Marie-Tooth Disease Type 4C

Preferred Label : Charcot-Marie-Tooth Disease Type 4C;

NCIt synonyms : CMT4C;

NCIt definition : An autosomal recessive form of demyelinating Charcot-Marie-Tooth disease caused by mutations in the SH3TC2 gene, encoding SH3 domain and tetratricopeptide repeat-containing protein 2.;

Détails

Origin ID

C129864;

UMLS CUI

C1866636;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4C [ORDO Disease]
- Charcot-Marie-Tooth disease type 4C [DO Concept]
- Charcot-Marie-Tooth disease type 4C [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 4C (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4C [MeSH concept]
- Charcot-Marie-Tooth disease, type 4C [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, demyelinating, type 4c [OMIM Phenotype]
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]
See also inter- (CISMeF)
- SH3 domain and tetratricopeptide repeats 2 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4C [ORDO Disease]
- Charcot-Marie-Tooth disease type 4C [DO Concept]
- Charcot-Marie-Tooth disease type 4C (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, Type 4C [MeSH concept]
- Charcot-Marie-Tooth disease, type 4C [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, demyelinating, type 4c [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [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
- SH3TC2 Gene [NCIt concept]

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

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