loading...| Preferred Name | Lecithin Cholesterol Acyltransferase Deficiency [Disease/Finding] | |
| Synonyms |
Lecithin Cholesterol Acyltransferase Deficiency Lecithin:Cholesterol Acyltransferase Deficiency LCATA Deficiency LCAT Deficiency alpha-Lecithin:Cholesterol Acyltransferase Deficiency alpha-Lecithin-Cholesterol Acyltransferase Deficiency Norum Disease alpha-LCAT Deficiency |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001793 |
|
| altLabel |
Lecithin Cholesterol Acyltransferase Deficiency Lecithin:Cholesterol Acyltransferase Deficiency LCATA Deficiency LCAT Deficiency alpha-Lecithin:Cholesterol Acyltransferase Deficiency alpha-Lecithin-Cholesterol Acyltransferase Deficiency Norum Disease alpha-LCAT Deficiency |
|
| cui |
C0023195 |
|
| MESH DEFINITION |
An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure. |
|
| MESH DUI |
D007863 |
|
| MeSH name |
Lecithin Cholesterol Acyltransferase Deficiency |
|
| MESH UI |
M0012277 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001793 |
|
| NUI |
N0000001793 |
|
| prefLabel |
Lecithin Cholesterol Acyltransferase Deficiency [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |