loading...| Preferred Name |
Cornelia De Lange Syndrome |
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| Synonyms |
Cornelia De Lange Syndrome |
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| Definitions |
A rare syndrome characterized by low birth weight, delayed growth, mental retardation, 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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75016 |
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| code |
C75016 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
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| Contributing_Source |
Cellosaurus NICHD |
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| DEFINITION |
A rare syndrome characterized by low birth weight, delayed growth, mental retardation, 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. |
|
| FULL_SYN |
Cornelia De Lange Syndrome |
|
| label |
Cornelia De Lange Syndrome |
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| Legacy Concept Name |
Cornelia_De_Lange_Syndrome |
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| Preferred_Name |
Cornelia De Lange Syndrome |
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| prefixIRI |
Thesaurus:C75016 |
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| Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75406 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0270972 |
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| subClassOf |