Disease #04166 (hepatosplenomegaly)

Official abbreviation -
Name hepatosplenomegaly
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Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ABCD3
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Individuals

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00027178 - PubMed: Ferdinandusse 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - 04y 0 - - hepatosplenomegaly see paper; jaundice, hepatosplenomegaly, severe liver disease, striking accumulation of peroxisomal C27-bile acid intermediates in plasma; skin fibroblasts reduced number of enlarged import-competent peroxisomes; died 5 d after liver transplantation ABCD3 ABCD3 1 1 Johan den Dunnen
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