Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

CORNELIA DE LANGE SYNDROME 3
Synonyms

CDLS3
ID

http://purl.bioontology.org/ontology/OMIM/610759
altLabel

CDLS3
cui

C1853099
Gene Locus

10q25
Gene Symbol

BAM

HCAP

CDLS3

SMC3

CSPG6
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU039319

http://purl.bioontology.org/ontology/OMIM/MTHU039793

http://purl.bioontology.org/ontology/OMIM/MTHU054629

http://purl.bioontology.org/ontology/OMIM/MTHU004092

http://purl.bioontology.org/ontology/OMIM/MTHU001753

http://purl.bioontology.org/ontology/OMIM/MTHU005738

http://purl.bioontology.org/ontology/OMIM/MTHU043729

http://purl.bioontology.org/ontology/OMIM/MTHU033469

http://purl.bioontology.org/ontology/OMIM/MTHU031714

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU047432

http://purl.bioontology.org/ontology/OMIM/MTHU037735

http://purl.bioontology.org/ontology/OMIM/MTHU013668

http://purl.bioontology.org/ontology/OMIM/MTHU000253

http://purl.bioontology.org/ontology/OMIM/MTHU003105

http://purl.bioontology.org/ontology/OMIM/MTHU000583

http://purl.bioontology.org/ontology/OMIM/MTHU004213

http://purl.bioontology.org/ontology/OMIM/MTHU004166

http://purl.bioontology.org/ontology/OMIM/MTHU002002

http://purl.bioontology.org/ontology/OMIM/MTHU012111

http://purl.bioontology.org/ontology/OMIM/MTHU043924

http://purl.bioontology.org/ontology/OMIM/MTHU036369

http://purl.bioontology.org/ontology/OMIM/MTHU008643

http://purl.bioontology.org/ontology/OMIM/MTHU054628

http://purl.bioontology.org/ontology/OMIM/MTHU000572

http://purl.bioontology.org/ontology/OMIM/MTHU001906

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU002343

http://purl.bioontology.org/ontology/OMIM/MTHU007485

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU003329

http://purl.bioontology.org/ontology/OMIM/MTHU009409

http://purl.bioontology.org/ontology/OMIM/MTHU008426

http://purl.bioontology.org/ontology/OMIM/MTHU039431
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

610759
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CORNELIA DE LANGE SYNDROME 3
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080507 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D003635 Medical Subject Headings CUI