Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/610759
http://purl.bioontology.org/ontology/OMIM/610759
Preferred Name

CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
Synonyms
CDLS3
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CDLS3
prefLabel
CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
Gene Symbol
HCAP
BAM
SMC3
CSPG6
CDLS3
Scope Statement
Highly variable phenotype [MISCELLANEOUS]
Caused by mutation in the structural maintenance of chromosomes 3 gene (SMC3, 606062.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU012111
http://purl.bioontology.org/ontology/OMIM/MTHU007485
http://purl.bioontology.org/ontology/OMIM/MTHU003329
http://purl.bioontology.org/ontology/OMIM/MTHU019019
http://purl.bioontology.org/ontology/OMIM/MTHU005302
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU000253
http://purl.bioontology.org/ontology/OMIM/MTHU004092
http://purl.bioontology.org/ontology/OMIM/MTHU008643
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU009409
http://purl.bioontology.org/ontology/OMIM/MTHU004213
http://purl.bioontology.org/ontology/OMIM/MTHU036369
http://purl.bioontology.org/ontology/OMIM/MTHU002392
http://purl.bioontology.org/ontology/OMIM/MTHU002002
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU000059
http://purl.bioontology.org/ontology/OMIM/MTHU003105
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU013668
http://purl.bioontology.org/ontology/OMIM/MTHU004166
http://purl.bioontology.org/ontology/OMIM/MTHU001906
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU015010
http://purl.bioontology.org/ontology/OMIM/MTHU001753
http://purl.bioontology.org/ontology/OMIM/MTHU033469
http://purl.bioontology.org/ontology/OMIM/MTHU008426
http://purl.bioontology.org/ontology/OMIM/MTHU068129
http://purl.bioontology.org/ontology/OMIM/MTHU002343
http://purl.bioontology.org/ontology/OMIM/MTHU054628
http://purl.bioontology.org/ontology/OMIM/MTHU005738
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tui
T047
Gene Locus
10q25
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
610759
Semantic type UMLS property
Has inheritance type
cui
C1853099
OMIM Entry Type
3
OMIM MimType Value
pound
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