Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615185 http://purl.bioontology.org/ontology/OMIM/615185
Preferred Name	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
Synonyms	CMTDIF
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMTDIF
prefLabel	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
Gene Symbol	CMTD1F GNB4
Scope Statement	Slowly progressive [MISCELLANEOUS] Onset around adolescence in males [MISCELLANEOUS] Later onset in females [MISCELLANEOUS] Males are more severely affected than females [MISCELLANEOUS] Caused by mutation in the guanine nucleotide-binding protein, beta-4 gene (GNB4, 610863.0001) [MOLECULAR BASIS] One Chinese family and 1 unrelated patient have been reported (last curated April 2013) [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000327 http://purl.bioontology.org/ontology/OMIM/MTHU001840 http://purl.bioontology.org/ontology/OMIM/MTHU043628 http://purl.bioontology.org/ontology/OMIM/MTHU043630 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU043629 http://purl.bioontology.org/ontology/OMIM/MTHU043631 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU035934 http://purl.bioontology.org/ontology/OMIM/MTHU004700 See more See less
tui	T047
Gene Locus	3q26.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615185
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4749463
OMIM Entry Type	3
OMIM MimType Value	pound

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