Online Mendelian Inheritance in Man - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617087 http://purl.bioontology.org/ontology/OMIM/617087
Preferred Name	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
Synonyms	CMT2A2B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMT2A2B
prefLabel	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
Gene Symbol	CMT2A2A MFN2 MSL CMT2A2B KIAA0214 HMSN6A See more See less
Scope Statement	Caused by mutation in the mitofusin 2 gene (MFN2, 608507.0013) [MOLECULAR BASIS] Most patients become wheelchair-bound [MISCELLANEOUS] Onset in first years of life [MISCELLANEOUS] Variable severity [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU055983 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU008076 http://purl.bioontology.org/ontology/OMIM/MTHU055982 http://purl.bioontology.org/ontology/OMIM/MTHU038541 http://purl.bioontology.org/ontology/OMIM/MTHU004252 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU036949 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU052557 http://purl.bioontology.org/ontology/OMIM/MTHU070264 http://purl.bioontology.org/ontology/OMIM/MTHU022723 http://purl.bioontology.org/ontology/OMIM/MTHU001947 http://purl.bioontology.org/ontology/OMIM/MTHU003516 http://purl.bioontology.org/ontology/OMIM/MTHU031268 See more See less
tui	T047
Gene Locus	1p36.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617087
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4310725
OMIM Entry Type	3
OMIM MimType Value	pound

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