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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Alagille Syndrome | |
| Synonyms |
Alagille Syndrome Arteriohepatic Dysplasia |
|
| Definitions |
An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35139 |
|
| code |
C35139
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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
|
|
| DEFINITION |
An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.
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|
| FULL_SYN |
Alagille Syndrome Arteriohepatic Dysplasia
|
|
| label |
Alagille Syndrome
|
|
| Legacy Concept Name |
Alagille_Syndrome
|
|
| Preferred_Name |
Alagille Syndrome
|
|
| prefixIRI |
Thesaurus:C35139
|
|
| Semantic_Type |
Disease or Syndrome
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|
| UMLS_CUI |
C0085280
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|
| subClassOf |
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