Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615376 http://purl.bioontology.org/ontology/OMIM/615376
Preferred Name	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
Synonyms	RI-CMTC CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C CMTRIC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RI-CMTC CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C CMTRIC
prefLabel	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
Gene Symbol	HMNR4 KIAA0720 CMTRIC PLEKHG5
Scope Statement	Variable age at onset (range childhood to adult) [MISCELLANEOUS] Caused by mutation in the pleckstrin homology domain-containing protein, family G, member 5 gene (PLEKHG5, 611101.0002) [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/MTHU031243 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU021884 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU003312 http://purl.bioontology.org/ontology/OMIM/MTHU033513 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU044084 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU004700 http://purl.bioontology.org/ontology/OMIM/MTHU001876 See more See less
tui	T047
Gene Locus	1p36
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615376
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3809309
OMIM Entry Type	3
OMIM MimType Value	pound

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