Online Mendelian Inheritance in Man - KLEEFSTRA SYNDROME 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617768 http://purl.bioontology.org/ontology/OMIM/617768
Preferred Name	KLEEFSTRA SYNDROME 2
Synonyms	KLEFS2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	KLEFS2
prefLabel	KLEEFSTRA SYNDROME 2
Gene Symbol	MLL3 KLEFS2 KMT2C KIAA1506
Scope Statement	Caused by mutation in the lysine-specific methyltransferase 2C gene (KMT2C, 606833.0001) [MOLECULAR BASIS] De novo mutation [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU050641 http://purl.bioontology.org/ontology/OMIM/MTHU045720 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU034165 http://purl.bioontology.org/ontology/OMIM/MTHU030536 http://purl.bioontology.org/ontology/OMIM/MTHU000267 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU006904 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU001312 http://purl.bioontology.org/ontology/OMIM/MTHU023468 http://purl.bioontology.org/ontology/OMIM/MTHU059898 http://purl.bioontology.org/ontology/OMIM/MTHU001720 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	7q36
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617768
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4540395
OMIM Entry Type	3
OMIM MimType Value	pound

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