PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

De Lange Syndrome
Synonyms
Definitions

A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.

ID

http://www.phoc.org.cn/pmo/class/PMO_00040028

Database_Cross_Reference

MEDCIN:36129

CHV:0000026562

DRUGBANK:DB03429

MTH:NOCODE

SNM:D-5012

CSP:0944-7801

NDFRT:N0000000900

MDR:10056354

SNOMEDCT_US:40354009

MSH:D003635

JABL:260

RCD:PKy60

ICD10CM:Q87.1

NCI:C75016

DO:DOID:11725

LCH_NW:sh85036011

SNMI:D4-00211

OMIM:122470

CSP:2403-8925

MDR:10077707

CSP:1354-8678

OMIM:608667

NCI_NICHD:C75016

LCH:U001276

SNM:M-70150

Definition

A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.

label

De Lange Syndrome

MCID

MC00094594

PMOID

PMO:00040028

prefixIRI

pmo:PMO_00040028

prefLabel

De Lange Syndrome

Synonym

cornelia de lange syndrome

CORNELIA DE LANGE SYNDROME 1

Cornelia de Lange Syndrome 1

cornelia de lange's syndrome

Degener.amsterodamensis typus

Lange syndrome 1 Amsterdam dwarf

De Lange's syndrome

DE LANGES SYNDROME

Cornelia de Lange's syndrome

cornelia de langes syndrome

CDLS1

lange syndrome cornelia de

De Lange syndrome (disorder)

typus amstelodamensis

Cornelia de Lange syndrome

Amsterdam type

Amsterdam dwarf

Typus Degenerativus Amstelodamensis

Brachmann-De Lange Syndrome

BRACHMANN-DE LANGE SYNDROME

de Lange syndrome 1

Typus degenerativus amstelodamensis

Cornelia de Lange 1

Brachmann-de Lange syndrome

Cornelia de Lange (CDL) syndrome (CLS) 1

De Lange syndrome

de lange syndrome

Brachmann-Cornelia de Lange syndrome

brachmann de lange syndrome

Syndrome, Brachmann-De Lange

Syndrome, De Lange

Diphosphatidyl Glycerol

Amstelodamensis, Typus Degenerativus

Cornelia De Lange Syndrome

Brachmann-Cornelia de Lange (BCDL) syndrome (BDLS)

status degenerativus amstelodamensis

syndrome cornelia de lange

CDL

Degenerative amstelodamensis typus

Syndrome, De Lange's

CDLS

DE LANGE SYNDROME

Bruck-de Lange syndrome

De Lange Syndrome [Disease/Finding]

BDLS

Cornelia de Lange syndrome (diagnosis)

Degenerative amsterodamensis typus

De Lange's Syndrome

de Lange syndrome

TYPUS DEGENERATIVUS AMSTELODAMENSIS

Brachmann de Lange syndrome

Brachmann De Lange Syndrome

Dwarf, Amsterdam

Tree Number

T9.8.3.1.45

T9.8.4.32.7

T3.25.90.6

T3.25.11.5.9.6

T9.21.1.5.9.6

T9.8.3.9.7

T3.25.70.9.6

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00040090

http://www.phoc.org.cn/pmo/class/PMO_00040104

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