Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613681 http://purl.bioontology.org/ontology/OMIM/613681
Preferred Name	CHROMOSOME 2q31.1 DUPLICATION SYNDROME
Synonyms	MESOMELIC DYSPLASIA, 2q31.1 DUPLICATION-RELATED
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MESOMELIC DYSPLASIA, 2q31.1 DUPLICATION-RELATED
prefLabel	CHROMOSOME 2q31.1 DUPLICATION SYNDROME
Gene Symbol	C2DUPq31.1 DUP2q31.1
Scope Statement	Caused by 1 to 3.8-Mb duplication on chromosome 2q31.1 [MOLECULAR BASIS] One 3-generation Korean family and one father daughter have been reported (last curated August 2013) [MISCELLANEOUS] Contiguous gene duplication syndrome [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU069112 http://purl.bioontology.org/ontology/OMIM/MTHU034501 http://purl.bioontology.org/ontology/OMIM/MTHU034503 http://purl.bioontology.org/ontology/OMIM/MTHU034502 http://purl.bioontology.org/ontology/OMIM/MTHU009230 http://purl.bioontology.org/ontology/OMIM/MTHU069114 http://purl.bioontology.org/ontology/OMIM/MTHU069113 http://purl.bioontology.org/ontology/OMIM/MTHU002163 http://purl.bioontology.org/ontology/OMIM/MTHU034504 http://purl.bioontology.org/ontology/OMIM/MTHU000145 See more See less
tui	T047
Gene Locus	2q31.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613681
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3150940
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display