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hyperlipoproteinemia, type 1D

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.
Uniprot Description An autosomal recessive disorder characterized by hyperlipoproteinemia, decreased plasma LPL levels in some patients, high plasma triglyceride levels, and refractory fasting chylomicronemia.
Mondo Term and Equivalent IDs
MONDO:0014412:  hyperlipoproteinemia, type 1D
DOID:0111420: 
Orphanet:535458: 
UMLS:C4014767: