loading...| Preferred Name |
Abetalipoproteinemia |
| Synonyms |
Bassen-Kornzweig Disease |
| Definitions |
An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. |
| ID |
http://purl.bioontology.org/ontology/MESH/D000012 |
| altLabel |
Bassen-Kornzweig Disease Microsomal Triglyceride Transfer Protein Deficiency Disease Bassen Kornzweig Disease Deficiency Disease, Betalipoprotein Deficiency Diseases, Betalipoprotein Diseases, Betalipoprotein Deficiency Acanthocytoses Bassen Kornzweig Syndrome Bassen-Kornzweig Syndrome Disease, Betalipoprotein Deficiency Acanthocytosis Betalipoprotein Deficiency Diseases Microsomal Triglyceride Transfer Protein Deficiency Betalipoprotein Deficiency Disease |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0000744 |
| DC |
1 |
| definition |
An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. |
| DX |
19660101 |
| HN |
1966(1964) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Inverse of SIB | |
| Machine permutation |
1966 |
| Mapped from | |
| MDA |
19990101 |
| MMR |
20130708 |
| MN |
C16.320.565.398.500.440.500 C18.452.648.398.500.440.500 C18.452.584.500.875.440.500 |
| notation |
D000012 |
| prefLabel |
Abetalipoproteinemia |
| TERMUI |
T000024 T646365 T365903 T365904 T751239 T811395 T000025 |
| TH |
UNK (19XX) NLM (2000) NLM (2010) NLM (1964) NLM (2007) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |