Preferred Name |
Chylomicron retention disease |
Synonyms |
Anderson Disease |
ID |
http://purl.bioontology.org/ontology/MESH/C535460 |
altLabel |
Anderson Disease Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells Anderson Syndrome Lipid transport defect of intestine |
cui |
C0795956 |
HM |
D006995 D008286 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20100825 |
MeSH Frequency |
25 |
MMR |
20151110 |
notation |
C535460 |
prefLabel |
Chylomicron retention disease |
SC |
3 |
Scope Statement |
A hereditary autosomal recessive disorder characterized by severe fat malabsorption associated with failure to thrive in infancy due to hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells. Mutations in the SAR1B gene have been identified. OMIM: 246700 |
TERMUI |
T802117 T845460 T736131 T841128 T736133 |
TH |
ORD (2010) OMIM (2013) GHR (2014) |
tui |
T047 |