Charcot-Marie-Tooth Disease Type 2K

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

NCIt synonyms : CMT2K;

NCIt definition : A rare subtype of Charcot-Marie-Tooth Disease that is caused by inherited mutations in the GDAP1 gene.;

Details

Origin ID

C133886;

UMLS CUI

C1842983;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 2K [ICD-11 More detail]
- ganglioside induced differentiation associated protein 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2K [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ICD-11 More detail]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2K [DO Concept]
- Charcot-Marie-Tooth disease, Type 2K [MeSH concept]
- Charcot-Marie-Tooth disease, autosomal dominant, type 2k [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2K [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, axonal, type 2k [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)
- Charcot-marie-tooth disease, axonal, type 2k [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [ORDO Disease]
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2K [DO Concept]
- Charcot-Marie-Tooth disease, Type 2K [MeSH concept]
- Charcot-Marie-Tooth disease, type 2K [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, axonal, type 2k [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
- GDAP1 Gene [NCIt concept]

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