Charcot-Marie-Tooth Disease Type 2Y

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

NCIt synonyms : CMT2Y;

NCIt definition : An autosomal dominant form of Charcot-Marie-Tooth disease caused by mutations in the VCP gene, encoding transitional endoplasmic reticulum ATPase.;

Details

Origin ID

C168974;

UMLS CUI

C5569026;

Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease type 2Y [DO Concept]
- Charcot-marie-tooth disease, axonal, type 2y [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)
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease type 2Y [DO Concept]
- Charcot-marie-tooth disease, axonal, type 2y [OMIM Phenotype]
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
- VCP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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