Charcot-Marie-Tooth Disease Type 4J

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

NCIt synonyms : CMT4J;

NCIt definition : A form of Charcot-Marie-Tooth disease which is inherited in an autosomal recessive manner. It is caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase. It results in peripheral demyelinating motor and sensory neuropathy.;

Details

Origin ID

C134954;

UMLS CUI

C1970011;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4J [ORDO Disease]
- Charcot-Marie-Tooth disease type 4J [DO Concept]
- Charcot-Marie-Tooth disease type 4J [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 4J (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type 4j [MeSH concept]
- Charcot-Marie-Tooth disease, type 4j [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, demyelinating, type 4j [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]
See also inter- (CISMeF)
- FIG4 phosphoinositide 5-phosphatase [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4J [ORDO Disease]
- Charcot-Marie-Tooth disease type 4J [DO Concept]
- Charcot-Marie-Tooth disease type 4J (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type 4j [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4j [MeSH concept]
- Charcot-marie-tooth disease, demyelinating, type 4j [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
- FIG4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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