Charcot-Marie-Tooth Disease Type 4B3

Preferred Label : Charcot-Marie-Tooth Disease Type 4B3;

NCIt synonyms : CMT4B3;

NCIt definition : An autosomal recessive form of Charcot-Marie-Tooth disease caused by mutations in the SBF1 gene, encoding myotubularin-related protein 5.;

Details

Origin ID

C190871;

UMLS CUI

C3695063;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 4B3 [ORDO Disease]
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)
- Charcot-Marie-Tooth disease type 4B3 (disorder) [SNOMED CT concept]
- Charcot-marie-tooth disease, demyelinating, type 4b3 [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
- SBF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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