Online Mendelian Inheritance in Man - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618279 http://purl.bioontology.org/ontology/OMIM/618279
Preferred Name	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
Synonyms	CMT1G
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMT1G
prefLabel	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
Gene Symbol	CMT1G PMP2
Scope Statement	Slowly progressive [MISCELLANEOUS] Onset in first or second decades [MISCELLANEOUS] Caused by mutation in the peripheral myelin protein 2 gene (PMP2, 170715.0001) [MOLECULAR BASIS] Lower limbs are more affected than upper limbs [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000327 http://purl.bioontology.org/ontology/OMIM/MTHU012549 http://purl.bioontology.org/ontology/OMIM/MTHU063114 http://purl.bioontology.org/ontology/OMIM/MTHU063111 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU062177 http://purl.bioontology.org/ontology/OMIM/MTHU063112 http://purl.bioontology.org/ontology/OMIM/MTHU063115 http://purl.bioontology.org/ontology/OMIM/MTHU063113 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU048020 http://purl.bioontology.org/ontology/OMIM/MTHU001140 http://purl.bioontology.org/ontology/OMIM/MTHU035934 http://purl.bioontology.org/ontology/OMIM/MTHU036949 http://purl.bioontology.org/ontology/OMIM/MTHU037767 See more See less
tui	T047
Gene Locus	8q21.3-q22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618279
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4748940
OMIM Entry Type	3
OMIM MimType Value	pound

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