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

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620068 http://purl.bioontology.org/ontology/OMIM/620068
Preferred Name	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II
Synonyms	CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II CMT2II
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II CMT2II
prefLabel	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II
Gene Symbol	KCC3A ACCPN KCC3 KCC3B CMT2II SLC12A6 See more See less
Scope Statement	De novo mutation (in some patients) [MISCELLANEOUS] Caused by mutation in the solute carrier family 12 (potassium/chloride transporter), member 6 gene (SLC12A6, 604878.0011) [MOLECULAR BASIS] Variable age at onset (range infancy to adult) [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/MTHU000327 http://purl.bioontology.org/ontology/OMIM/MTHU008003 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU006276 http://purl.bioontology.org/ontology/OMIM/MTHU003329 http://purl.bioontology.org/ontology/OMIM/MTHU001241 http://purl.bioontology.org/ontology/OMIM/MTHU025809 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU001752 http://purl.bioontology.org/ontology/OMIM/MTHU001834 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU000351 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU076261 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU001140 http://purl.bioontology.org/ontology/OMIM/MTHU043414 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU076260 http://purl.bioontology.org/ontology/OMIM/MTHU001203 http://purl.bioontology.org/ontology/OMIM/MTHU040871 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	15q13-q14
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620068
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5774227
OMIM Entry Type	3
OMIM MimType Value	pound

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