loading...| Preferred Name |
De Lange Syndrome |
|
| Synonyms |
Brachmann-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) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D003635 |
|
| 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 |
|
| 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 C4551851 C1802395 C0270972 |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2000; see DE LANGE'S SYNDROME 1966-1999 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20190517 |
|
| MN |
C10.597.606.360.210 C16.131.077.272 C16.320.180.210 C16.131.260.210 |
|
| notation |
D003635 |
|
| prefLabel |
De Lange Syndrome |
|
| TERMUI |
T782913 T365403 T365394 T365404 T782912 T010602 T825869 T782914 T825868 T782915 T365402 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2012) GHR (2014) NLM (1964) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D000015 |