Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615538 http://purl.bioontology.org/ontology/OMIM/615538
Preferred Name	CHROMOSOME 22q13 DUPLICATION SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	CHROMOSOME 22q13 DUPLICATION SYNDROME
Gene Symbol	C22DUPq13 DUP22q13
Scope Statement	Caused by 64- to 240-kb interstitial duplication of 22q13.33 involving the SHANK3 gene (606230) [MOLECULAR BASIS] Based on report of 2 individuals (last curated November 2013) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU050979 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU002030 http://purl.bioontology.org/ontology/OMIM/MTHU036661 http://purl.bioontology.org/ontology/OMIM/MTHU010500 http://purl.bioontology.org/ontology/OMIM/MTHU000265 http://purl.bioontology.org/ontology/OMIM/MTHU050977 http://purl.bioontology.org/ontology/OMIM/MTHU014120 http://purl.bioontology.org/ontology/OMIM/MTHU044920 http://purl.bioontology.org/ontology/OMIM/MTHU003271 http://purl.bioontology.org/ontology/OMIM/MTHU050981 http://purl.bioontology.org/ontology/OMIM/MTHU000264 http://purl.bioontology.org/ontology/OMIM/MTHU050980 http://purl.bioontology.org/ontology/OMIM/MTHU050978 See more See less
tui	T047
Gene Locus	22q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615538
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000251
cui	C3809844
OMIM Entry Type	3
OMIM MimType Value	pound

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