Preferred Name | De Lange Syndrome | |
Synonyms |
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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. |
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ID |
http://www.phoc.org.cn/pmo/class/PMO_00040028 |
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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 |
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MCID |
MC00094594 |
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PMOID |
PMO:00040028 |
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prefixIRI |
pmo:PMO_00040028 |
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prefLabel |
De Lange Syndrome |
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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 |
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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 |
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subClassOf |