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Pediatric Terminology
Last uploaded:
January 25, 2013
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| Preferred Name | Arteriohepatic_Dysplasia | |
| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Arteriohepatic_Dysplasia |
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| ID |
C35139
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| NCI_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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| NCI_PT |
Alagille Syndrome
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| NICHD_Definition |
_
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| prefixIRI |
Arteriohepatic_Dysplasia
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| prefLabel |
Arteriohepatic_Dysplasia
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| Subset_Association1 |
NICHD Pediatric Terminology
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| Subset_Association2 |
Neonatal Research Network Terminology
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Genetic_Disorder |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.bioontology.org/ontology/SNOMEDCT/31742004 | SNOMEDCT | LOOM |
| http://purl.bioontology.org/ontology/SNMI/D4-01203 | SNMI | LOOM |