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biliary atresia with splenic malformation syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.
Mondo Term and Equivalent IDs
MONDO:0016577: biliary atresia with splenic malformation syndrome
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:244283
SCTID:717156002
UMLS:C4274029
UMLS:CN201730
MONDO:0016577
High level summary of knowledge for a disease, including descriptions and datasource references.