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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
abetalipoproteinemia +   
Hypoalphalipoproteinemias +   
hypobetalipoproteinemia +   
Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.
Norum disease  
Wolman Disease with Hypolipoproteinemia and Acanthocytosis 

Synonyms
Exact Synonyms: FHBL ;   Familial Hypobetalipoproteinemia ;   hypo beta lipoproteinemia ;   hypo beta lipoproteinemias ;   hypobetalipoproteinemias
Primary IDs: MESH:D006995
Alternate IDs: RDO:0000586
Definition Sources: MESH:D006995, https://en.wikipedia.org/wiki/Hypobetalipoproteinemia, https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia, https://www.ncbi.nlm.nih.gov/pubmed/15818469

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.