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low phospholipid associated cholelithiasis
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.
Uniprot Description One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:600803
Orphanet:69663
SCTID:715577009
UMLS:C2609268
MONDO:0010939
High level summary of knowledge for a disease, including descriptions and datasource references.