Medical Subject Headings

Last uploaded: April 29, 2019
Preferred Name

De Lange Syndrome

Synonyms

Amstelodamensis, Typus Degenerativus

Definitions

A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)

ID

http://purl.bioontology.org/ontology/MESH/D003635

altLabel

Amstelodamensis, Typus Degenerativus

Syndrome, De Lange's

Cornelia de Lange Syndrome, X Linked

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cornelia de Lange Syndrome 3

CdLS, X-Linked

Cornelia De Lange Syndrome

Cornelia de Lange Syndrome 2

Syndrome, De Lange

Typus Degenerativus Amstelodamensis

De Lange's Syndrome

Syndrome, Brachmann-De Lange

CdLS2

Cornelia de Lange Syndrome 1

Cornelia de Lange Syndrome, X-Linked

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C1853099

C0270972

C1802395

C4551851

DC

1

definition

A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)

DX

19660101

FX

D008607

HN

2000(1964)

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D008607

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D001816

http://purl.bioontology.org/ontology/MESH/D056889

http://purl.bioontology.org/ontology/MESH/D056732

http://purl.bioontology.org/ontology/MESH/D000073839

http://purl.bioontology.org/ontology/MESH/D018980

http://purl.bioontology.org/ontology/MESH/D016878

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D058165

http://purl.bioontology.org/ontology/MESH/D056733

http://purl.bioontology.org/ontology/MESH/D058497

http://purl.bioontology.org/ontology/MESH/D059446

http://purl.bioontology.org/ontology/MESH/D044542

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D004476

http://purl.bioontology.org/ontology/MESH/D056846

http://purl.bioontology.org/ontology/MESH/D004314

http://purl.bioontology.org/ontology/MESH/D058495

http://purl.bioontology.org/ontology/MESH/D019082

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D017204

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D016715

http://purl.bioontology.org/ontology/MESH/D038901

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D054868

http://purl.bioontology.org/ontology/MESH/D019280

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D007849

http://purl.bioontology.org/ontology/MESH/D012779

http://purl.bioontology.org/ontology/MESH/D056770

http://purl.bioontology.org/ontology/MESH/D056731

http://purl.bioontology.org/ontology/MESH/D054975

http://purl.bioontology.org/ontology/MESH/D020331

http://purl.bioontology.org/ontology/MESH/D056730

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D015211

http://purl.bioontology.org/ontology/MESH/D058502

http://purl.bioontology.org/ontology/MESH/D058496

http://purl.bioontology.org/ontology/MESH/D007690

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D056830

http://purl.bioontology.org/ontology/MESH/D000073842

http://purl.bioontology.org/ontology/MESH/D001506

http://purl.bioontology.org/ontology/MESH/D001478

http://purl.bioontology.org/ontology/MESH/D005736

http://purl.bioontology.org/ontology/MESH/D017624

http://purl.bioontology.org/ontology/MESH/D016142

http://purl.bioontology.org/ontology/MESH/D007184

http://purl.bioontology.org/ontology/MESH/D025064

http://purl.bioontology.org/ontology/MESH/D014849

http://purl.bioontology.org/ontology/MESH/D054062

http://purl.bioontology.org/ontology/MESH/D054463

http://purl.bioontology.org/ontology/MESH/D011218

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D054877

http://purl.bioontology.org/ontology/MESH/D011535

http://purl.bioontology.org/ontology/MESH/D056734

http://purl.bioontology.org/ontology/MESH/D054000

http://purl.bioontology.org/ontology/MESH/D012410

http://purl.bioontology.org/ontology/MESH/D003410

http://purl.bioontology.org/ontology/MESH/D012415

http://purl.bioontology.org/ontology/MESH/D008382

Machine permutation

2000; see DE LANGE'S SYNDROME 1966-1999

Mapped from

http://purl.bioontology.org/ontology/MESH/C566206

MDA

19990101

MMR

20180630

MN

C16.320.180.210

C16.131.260.210

C16.131.077.272

C10.597.606.360.210

notation

D003635

prefLabel

De Lange Syndrome

TERMUI

T782912

T365394

T825868

T782914

T365402

T782913

T782915

T365403

T010602

T365404

T825869

TH

NLM (2000)

NLM (1964)

NLM (2012)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D008607

http://purl.bioontology.org/ontology/MESH/D025063

http://purl.bioontology.org/ontology/MESH/D000015

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10077707 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DA-51574 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.1 ICD10CM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.210 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.210 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/122470 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/122470 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/606062 OMIM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.210 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/300040 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/610759 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/608667 OMIM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000900 NDFRT CUI
http://purl.bioontology.org/ontology/CSP/1354-8678 CRISP CUI
http://purl.bioontology.org/ontology/RCD/PKy60 RCD CUI
http://purl.bioontology.org/ontology/OMIM/300590 OMIM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003635 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.272 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#De_Lange_Syndrome BDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/40354009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/40354009 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00211 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-00211 SNMI LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#De_Lange_Syndrome PEDTERM LOOM
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10056354 MEDDRA CUI
http://purl.jp/bio/4/id/200906061196762235 IOBC LOOM
http://purl.jp/bio/4/id/200906061196762235 IOBC LOOM
http://purl.jp/bio/4/id/200906061196762235 IOBC LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/55016009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/2403-8925 CRISP CUI