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Charcot-Marie-Tooth disease axonal type 2V

Go to external page http://purl.obolibrary.org/obo/MONDO_0014665

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

Synonyms: autosomal dominant Charcot-Marie-Tooth disease type 2V NAGLU Charcot-Marie-Tooth disease Charcot-Marie-Tooth neuropathy type 2V autosomal dominant axonal Charcot-Marie-Tooth disease type 2V hereditary adult-onset painful axonal polyneuropathy CMT2V autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation Charcot-Marie-Tooth disease caused by mutation in NAGLU

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:17777 (MONDO:GARD)
  • Orphanet:447964 (MONDO:equivalentTo)
  • DOID:0110178 (MONDO:equivalentTo)
  • OMIM:616491 (Orphanet:447964/e)
  • UMLS:C5569050 (MONDO:equivalentTo)
  • MEDGEN:1800473 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/medgen/1800473

https://omim.org/entry/616491

http://linkedlifedata.com/resource/umls/id/C5569050

http://purl.obolibrary.org/obo/DOID_0110178

http://www.orpha.net/ORDO/Orphanet_447964

has related synonym

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

Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V

Charcot-Marie-Tooth neuropathy, type 2V

id

MONDO:0014665