loading...| Preferred Name |
Abetalipoproteinemia |
|
| Synonyms |
Betalipoprotein Deficiency Diseases |
|
| 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 |
Betalipoprotein Deficiency Diseases Bassen-Kornzweig Disease Bassen Kornzweig Disease Acanthocytoses Bassen-Kornzweig Syndrome Betalipoprotein Deficiency Disease Acanthocytosis Deficiency Disease, Betalipoprotein Bassen Kornzweig Syndrome Disease, Betalipoprotein Deficiency Diseases, Betalipoprotein Deficiency Deficiency Diseases, Betalipoprotein Microsomal Triglyceride Transfer Protein Deficiency Disease Microsomal Triglyceride Transfer Protein Deficiency |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1966 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20210630 |
|
| MN |
C18.452.648.398.500.440.500 C16.320.565.398.500.440.500 C18.452.584.563.500.440.500 C18.452.584.500.875.440.500 |
|
| notation |
D000012 |
|
| prefLabel |
Abetalipoproteinemia |
|
| TERMUI |
T751239 T000025 T811395 T365904 T646365 T365903 T000024 |
|
| TH |
OMIM (2013) NLM (2000) UNK (19XX) NLM (2010) GHR (2014) NLM (2007) NLM (1964) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |