Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/302801 http://purl.bioontology.org/ontology/OMIM/302801
Preferred Name	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2
Synonyms	CMTX2 CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMTX2 CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2
prefLabel	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2
Gene Symbol	CMTX2
Scope Statement	Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Both demyelinating and axonal features [MISCELLANEOUS] See also CMTX1 (302800) and CMT3X (302802) [MISCELLANEOUS] Upper limb involvement may occur later [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU008003 http://purl.bioontology.org/ontology/OMIM/MTHU007999 http://purl.bioontology.org/ontology/OMIM/MTHU007996 http://purl.bioontology.org/ontology/OMIM/MTHU001004 http://purl.bioontology.org/ontology/OMIM/MTHU001241 http://purl.bioontology.org/ontology/OMIM/MTHU007998 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU002657 See more See less
tui	T047
Gene Locus	Xp22.2
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	302801
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C1844873
OMIM Entry Type	5
OMIM MimType Value	perc

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