Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/607677 http://purl.bioontology.org/ontology/OMIM/607677
Preferred Name	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I
Synonyms	CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2I CMT2I
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2I CMT2I
prefLabel	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I
Gene Symbol	DSS CMTDID CHN2 MPZ CMT1B
Scope Statement	Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Onset in fourth to sixth decade [MISCELLANEOUS] Upper limb involvement may occur later [MISCELLANEOUS] Genetic heterogeneity of axonal CMT (see CMT2A 118210) [MISCELLANEOUS] Caused by mutation in the myelin protein zero gene (MPZ, 159440.0017) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU002899 http://purl.bioontology.org/ontology/OMIM/MTHU001004 http://purl.bioontology.org/ontology/OMIM/MTHU001014 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU002722 See more See less
tui	T047
Gene Locus	1q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607677
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3888087
OMIM Entry Type	3
OMIM MimType Value	pound

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