Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
Jump to:
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
notation
610759
Scope Statement
Highly variable phenotype [MISCELLANEOUS]
Caused by mutation in the structural maintenance of chromosomes 3 gene (SMC3, 606062.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
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
See more
See less
MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
10q25
tui
T047
cui
C1853099
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display