Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616491 http://purl.bioontology.org/ontology/OMIM/616491
Preferred Name	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
Synonyms	CMT2V CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMT2V CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V
prefLabel	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
Gene Symbol	NAGLU MPS3B CMT2V
Scope Statement	Mean age at onset 41 years (range 18 to 61) [MISCELLANEOUS] One family of French-Canadian origin has been reported (last curated July 2015) [MISCELLANEOUS] Caused by mutation in the alpha-N-acetylglucosaminidase gene (NAGLU, 609701.0015) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU051989 http://purl.bioontology.org/ontology/OMIM/MTHU051993 http://purl.bioontology.org/ontology/OMIM/MTHU051990 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU051992 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU051987 http://purl.bioontology.org/ontology/OMIM/MTHU000700 http://purl.bioontology.org/ontology/OMIM/MTHU051991 http://purl.bioontology.org/ontology/OMIM/MTHU001409 See more See less
tui	T047
Gene Locus	17q21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616491
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5569050
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display