Preferred Name

lecithin cholesterol acyltransferase deficiency
Synonyms

familial cholesteryl ester deficiency

LCAT deficiency

lecithin acyltransferase deficiency

Definitions

disease characterized by abnormally low levels of plasma lecithin cholesterol acyl transferase; clinical manifestations include corneal opacity, anemia, and proteinuria.

ID

http://purl.bioontology.org/ontology/CSP/1849-5422

altLabel

familial cholesteryl ester deficiency

LCAT deficiency

lecithin acyltransferase deficiency

cui

C0023195

definition

disease characterized by abnormally low levels of plasma lecithin cholesterol acyl transferase; clinical manifestations include corneal opacity, anemia, and proteinuria.

DID

1849-5422

Inverse of RB

http://purl.bioontology.org/ontology/CSP/4001-0049

http://purl.bioontology.org/ontology/CSP/1849-5080

notation

1849-5422

prefLabel

lecithin cholesterol acyltransferase deficiency

tui

T047

subClassOf

http://purl.bioontology.org/ontology/CSP/4001-0049

http://purl.bioontology.org/ontology/CSP/1849-5080

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http://purl.bioontology.org/ontology/MDRFRE/10077928 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001793 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/D6-72750 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/E78.6 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10077917 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1264565005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D007863 MESH CUI
http://purl.bioontology.org/ontology/RCD/X20DW RCD CUI
http://purl.bioontology.org/ontology/RCD/X40XQ RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10077928 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/245900 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10077917 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10077928 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D007863 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/1264565005 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10077917 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/606967 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238091006 SNOMEDCT LOOM
http://identifiers.org/omim/245900 REXO LOOM
http://identifiers.org/omim/245900 GEXO LOOM
http://identifiers.org/omim/245900 RETO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038546 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/OMIM_245900 CCO LOOM
http://purl.bioontology.org/ontology/MESH/D007863 MESH LOOM
http://purl.bioontology.org/ontology/RCD/X40XQ RCD LOOM
http://purl.bioontology.org/ontology/OMIM/245900 OMIM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10077917 MEDDRA LOOM
http://nanbyodata.jp/ontology/NANDO_1200852 NANDO LOOM