Alagille Syndrome

Preferred Label : Alagille Syndrome;

NCIt synonyms : Arteriohepatic Dysplasia;

NCIt 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.;

Details

Origin ID

C35139;

UMLS CUI

C0085280;

Automatic exact mappings (from CISMeF team)
- Alagille syndrome [ICD-11 More detail]
- Alagille syndrome [OMIM phenotypic series]
- liver diseases [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Alagille syndrome [DO Concept]
- Alagille syndrome [Disease (Nov.)]
- Alagille syndrome [MedDRA Preferred Term]
- Alagille syndrome [ORDO Disease]
- Alagille syndrome 1 [OMIM Phenotype]
- Arteriohepatic dysplasia [PASCAL descriptor]
- Arteriohepatic dysplasia (disorder) [SNOMED CT concept]
- Other congenital malformations of liver [ICD-10 Sub-category (who)]
- Other congenital malformations of liver [ICD-10 Sub-category]
- alagille syndrome [MeSH Descriptor]
- alagille syndrome [MeSH concept]
- arteriohepatic dysplasia [SNOMED Notion]
DO Cross reference
- Alagille syndrome [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Alagille syndrome [ORDO Disease]
- Alagille syndrome [DO Concept]
- Alagille syndrome [Disease (Nov.)]
- Alagille syndrome [MedDRA Preferred Term]
- Arteriohepatic dysplasia (disorder) [SNOMED CT concept]
- Other congenital malformations of liver [ICD-10 Sub-category (who)]
- alagille syndrome [MeSH Descriptor]
- alagille syndrome [MeSH concept]
- arteriohepatic dysplasia [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_mapped_to_gene
- JAG1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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