loading...| Preferred Name |
abetalipoproteinemia |
|
| Synonyms |
Bassen Kornzweig syndrome hypobetalipoproteinemia betalipoprotein deficiency disease acanthocytosis microsomal triglyceride transfer protein deficiency disease |
|
| Definitions |
disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of apolipoprotein B and apoB containing lipoproteins in plasma; microsomal triglyceride transfer protein is deficient or absent in enterocytes; clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea; intellectual abilities may also be impaired. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-5137 |
|
| altLabel |
Bassen Kornzweig syndrome hypobetalipoproteinemia betalipoprotein deficiency disease acanthocytosis microsomal triglyceride transfer protein deficiency disease |
|
| cui |
C0000744 C0687751 C0020597 |
|
| definition |
disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of apolipoprotein B and apoB containing lipoproteins in plasma; microsomal triglyceride transfer protein is deficient or absent in enterocytes; clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea; intellectual abilities may also be impaired. |
|
| DID |
1849-5137 |
|
| Inverse of RB | ||
| Inverse of RO | ||
| notation |
1849-5137 |
|
| prefLabel |
abetalipoproteinemia |
|
| tui |
T047 |
|
| subClassOf |