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loading...| 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 |
16 |
| 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 |
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