Online Mendelian Inheritance in Man

Last uploaded: November 18, 2019
Preferred Name

CORNELIA DE LANGE SYNDROME 1

Synonyms

CDL

ID

http://purl.bioontology.org/ontology/OMIM/122470

altLabel

CDL

CDLS1

BDLS

DE LANGE SYNDROME

BRACHMANN-DE LANGE SYNDROME

TYPUS DEGENERATIVUS AMSTELODAMENSIS

CDLS

cui

C0270972

C4551851

Gene Locus

5p13.1

Gene Symbol

CDLS1

NIPBL

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU021159

http://purl.bioontology.org/ontology/OMIM/MTHU021157

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

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU015010

http://purl.bioontology.org/ontology/OMIM/MTHU005302

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU021163

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU012095

http://purl.bioontology.org/ontology/OMIM/MTHU018822

http://purl.bioontology.org/ontology/OMIM/MTHU003212

http://purl.bioontology.org/ontology/OMIM/MTHU021161

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU008662

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

http://purl.bioontology.org/ontology/OMIM/MTHU018828

http://purl.bioontology.org/ontology/OMIM/MTHU018826

http://purl.bioontology.org/ontology/OMIM/MTHU018820

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

http://purl.bioontology.org/ontology/OMIM/MTHU018824

http://purl.bioontology.org/ontology/OMIM/MTHU024262

http://purl.bioontology.org/ontology/OMIM/MTHU005690

http://purl.bioontology.org/ontology/OMIM/MTHU002638

http://purl.bioontology.org/ontology/OMIM/MTHU024261

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU004817

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

http://purl.bioontology.org/ontology/OMIM/MTHU017168

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU021156

http://purl.bioontology.org/ontology/OMIM/MTHU000145

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

http://purl.bioontology.org/ontology/OMIM/MTHU002522

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU001954

http://purl.bioontology.org/ontology/OMIM/MTHU005516

http://purl.bioontology.org/ontology/OMIM/MTHU021158

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU021160

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

http://purl.bioontology.org/ontology/OMIM/MTHU008669

http://purl.bioontology.org/ontology/OMIM/MTHU026918

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

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU030750

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU018823

http://purl.bioontology.org/ontology/OMIM/MTHU021164

http://purl.bioontology.org/ontology/OMIM/MTHU021162

http://purl.bioontology.org/ontology/OMIM/MTHU001437

http://purl.bioontology.org/ontology/OMIM/MTHU018825

http://purl.bioontology.org/ontology/OMIM/MTHU007694

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

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU005697

http://purl.bioontology.org/ontology/OMIM/MTHU018821

http://purl.bioontology.org/ontology/OMIM/MTHU011563

http://purl.bioontology.org/ontology/OMIM/MTHU002185

http://purl.bioontology.org/ontology/OMIM/MTHU000559

http://purl.bioontology.org/ontology/OMIM/MTHU012914

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

122470

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CORNELIA DE LANGE SYNDROME 1

tui

T047

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http://purl.bioontology.org/ontology/MEDDRA/10077707 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10056354 MDRFRE CUI
http://identifiers.org/omim/122470 RETO LOOM
http://identifiers.org/omim/122470 GEXO LOOM
http://identifiers.org/omim/122470 REXO LOOM
http://purl.bioontology.org/ontology/MSHFRE/D003635 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000900 NDFRT CUI
http://purl.obolibrary.org/obo/DOID_0080505 NIFSTD LOOM
http://purl.bioontology.org/ontology/CSP/1354-8678 CRISP CUI
http://purl.bioontology.org/ontology/RCD/PKy60 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/40354009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00211 SNMI CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10056354 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10077707 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D003635 MESH CUI
http://purl.bioontology.org/ontology/MESH/D003635 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/40354009 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.19 ICD10CM CUI
http://purl.obolibrary.org/obo/MONDO_0007387 MONDO LOOM
http://purl.bioontology.org/ontology/CSP/2403-8925 CRISP CUI