PropertyValue
?:definition
  • Anomaly of bile acid synthesis with manifestation of fat malabsorption, neonatal cholestasis and growth failure. Prevalence is unknown. Only 8 cases have been reported. Patients present with a history of neonatal cholestasis, fat and fat-soluble vitamin malabsorption and growth failure. Several mutations in the bile acid-CoA ligase gene have been found in most patients with this defect. The mode of transmission of these mutations is not known.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/net/provenance/ns#DataItem>
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.w3.org/2004/03/trix/rdfg-1/Graph>
<http://xmlns.com/foaf/0.1/primaryTopic> <https://research.tib.eu/covid-19/entity/C4274079_SNOMEDCT_US>
<http://xmlns.com/foaf/0.1/topic> Anon_0
<http://www.ontologydesignpatterns.org/cp/owl/informationrealization.owl#realizes> <https://research.tib.eu/covid-19/data/entity/C4274079_SNOMEDCT_US>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all