Charcot-Marie-Tooth Disease Type 2A2A

Preferred Label : Charcot-Marie-Tooth Disease Type 2A2A;

NCIt synonyms : Charcot-Marie-Tooth Disease Type 2A2; CMT2A2A; CMT2A2;

NCIt definition : Charcot-Marie-Tooth Disease Type 2A that is inherited in an autosomal dominant manner.;

Détails

Origin ID

C150646;

UMLS CUI

C4721887;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 [ORDO Disease]
- Charcot-Marie-Tooth disease type 2A2 [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 2A2A [DO Concept]
- Charcot-Marie-Tooth disease, axonal, type 2A2 [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a [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)
- mitofusin 2 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder) [SNOMED CT concept]
- Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a [OMIM Phenotype]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- 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
- MFN2 Gene [NCIt concept]

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