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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D003635
http://purl.bioontology.org/ontology/MESH/D003635
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|---|---|
| Preferred Name | De Lange Syndrome |
| 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)
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| Synonyms |
Brachmann-De Lange Syndrome
Cornelia De Lange Syndrome
Brachmann De Lange Syndrome
Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome, X-Linked
X-Linked CdLS
Cornelia de Lange Syndrome, X Linked
CdLS, X Linked
CdLSs, X-Linked
Cornelia de Lange Syndrome 1
Syndrome, Brachmann-De Lange
CdLS2
Cornelia de Lange Syndrome 2
Amstelodamensis, Typus Degenerativus
CdLS, X-Linked
X-Linked CdLSs
De Lange's Syndrome
Typus Degenerativus Amstelodamensis
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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) |
|---|---|
| altLabel |
Brachmann-De Lange Syndrome
Cornelia De Lange Syndrome
Brachmann De Lange Syndrome
Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome, X-Linked
X-Linked CdLS
Cornelia de Lange Syndrome, X Linked
CdLS, X Linked
CdLSs, X-Linked
Cornelia de Lange Syndrome 1
Syndrome, Brachmann-De Lange
CdLS2
Cornelia de Lange Syndrome 2
Amstelodamensis, Typus Degenerativus
CdLS, X-Linked
X-Linked CdLSs
De Lange's Syndrome
Typus Degenerativus Amstelodamensis
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| prefLabel | De Lange Syndrome
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| Machine permutation | 2000; see DE LANGE'S SYNDROME 1966-1999
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| HN | 2000(1964)
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| Mapped from | |
| type | |
| tui | T047
|
| TERMUI |
T782913
T365403
T365394
T365404
T782912
T010602
T825869
T782914
T825868
T782915
T365402
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| TH |
OMIM (2013)
NLM (2000)
NLM (2012)
GHR (2014)
NLM (1964)
ORD (2010)
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| MMR | 20190517
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| notation | D003635
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| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
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| FX | D008607
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| DX | 19660101
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| cui |
C1853099
C4551851
C1802395
C0270972
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| DC | 1
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| MN |
C10.597.606.360.210
C16.131.077.272
C16.320.180.210
C16.131.260.210
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| 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
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| MDA | 19991103
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |