loading...| Preferred Name |
Cornelia de Lange syndrome |
|
| Synonyms |
Cornelia de Lange syndrome Brachmann-de Lange syndrome De Lange syndrome Brachmann de Lange syndrome CDLS |
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| Definitions |
A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0016033 |
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| has_exact_synonym |
Cornelia de Lange syndrome Brachmann-de Lange syndrome De Lange syndrome Brachmann de Lange syndrome |
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| has_related_synonym |
CDLS |
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| IAO_0000233 | ||
| label |
Cornelia de Lange syndrome |
|
| prefixIRI |
MONDO:0016033 |
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| prefLabel |
Cornelia de Lange syndrome |
|
| textual definition |
A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0015216 |