Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
Synonyms

NORUM DISEASE

LCAT DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/245900
altLabel

NORUM DISEASE

LCAT DEFICIENCY
cui

C0023195
Gene Locus

16q22.1
Gene Symbol

LCAT
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU011892

http://purl.bioontology.org/ontology/OMIM/MTHU011889

http://purl.bioontology.org/ontology/OMIM/MTHU006276

http://purl.bioontology.org/ontology/OMIM/MTHU011887

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU011894

http://purl.bioontology.org/ontology/OMIM/MTHU011893

http://purl.bioontology.org/ontology/OMIM/MTHU004893

http://purl.bioontology.org/ontology/OMIM/MTHU011895

http://purl.bioontology.org/ontology/OMIM/MTHU011891

http://purl.bioontology.org/ontology/OMIM/MTHU011896

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU011888

http://purl.bioontology.org/ontology/OMIM/MTHU011890
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

245900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
Scope Statement

Caused by mutations in the lecithin:cholesterol acyltransferase gene (LCAT, 606967.0001). [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/CSP/1849-5422 CRISP CUI
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/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/SNOMEDCT/238091006 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/CSP/1849-5422 CRISP 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/MEDDRA/10077917 MEDDRA LOOM
http://nanbyodata.jp/ontology/NANDO_1200852 NANDO LOOM