Charcot-Marie-Tooth disease axonal type 2T

Charcot-Marie-Tooth disease axonal type 2T

http://purl.obolibrary.org/obo/MONDO_0014866

A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. [ DOID:0110160 http://www.ncbi.nlm.nih.gov/pubmed/26991897 ]

Synonyms: Charcot-Marie-Tooth disease, axonal, type 2T DNAJB2-related CMT2 Charcot-Marie-Tooth disease axonal type 2T CMT2T Charcot-Marie-Tooth neuropathy type 2T

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This is just here as a test because I lose it

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database cross reference

UMLS:C4015635 (MONDO:ncbi_mim2gene_medline)
OMIM:616233 (Orphanet:443950/nd)
GARD:18653 (Orphanet:443950)
Orphanet:443950 (MONDO:equivalentTo)
OMIM:617017 (Orphanet:443950/btnt)
DOID:0110160 (MONDO:equivalentTo)

Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0110160

http://linkedlifedata.com/resource/umls/id/C4015635

https://omim.org/entry/617017

http://www.orpha.net/ORDO/Orphanet_443950

has related synonym

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T

AR-CMT2T

autosomal recessive axonal Charcot-Marie-Tooth disease type 2T

Charcot-Marie-Tooth neuropathy, type 2T

DNAJB2-related Charcot-Marie-Tooth disease type 2

MONDO:0014866

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014866

Term relations

Subclass of:

Charcot-Marie-Tooth disease type 2