Charcot-Marie-Tooth disease axonal type 2CC

Charcot-Marie-Tooth disease axonal type 2CC

http://purl.obolibrary.org/obo/MONDO_0014836

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: CMT2CC Charcot-Marie-Tooth disease caused by mutation in NEFH Charcot-Marie-Tooth disease axonal type 2CC NEFH Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, axonal, type 2cc Charcot-Marie-Tooth neuropathy type 2CC

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This is just here as a test because I lose it

Term information

database cross reference

DOID:0110180 (MONDO:equivalentTo)
OMIM:616924 (MONDO:equivalentTo)
UMLS:C4310790 (MONDO:ncbi_mim2gene_medline)

Subsets

rare, nord_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0110180

https://omim.org/entry/616924

http://linkedlifedata.com/resource/umls/id/C4310790

has related synonym

Charcot-Marie-Tooth neuropathy, type 2Cc

Charcot-Marie-Tooth disease, axonal, type 2CC

MONDO:0014836

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014836

Term relations

Subclass of:

Charcot-Marie-Tooth disease type 2