loading...| Preferred Name |
Alagille Syndrome |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C35139 |
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| code |
C35139 |
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| Contributing_Source |
Cellosaurus NICHD |
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| 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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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Alagille Syndrome |
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| Legacy Concept Name |
Alagille_Syndrome |
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| Preferred_Name |
Alagille Syndrome |
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| prefixIRI |
NCIT:C35139 |
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| prefLabel |
Alagille Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0085280 |
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| subClassOf |