Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
Synonyms	LCAT DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/245900
altLabel	LCAT DEFICIENCY NORUM DISEASE
cui	C0023195
Gene Locus	16q22.1
Gene Symbol	LCAT
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU011896 http://purl.bioontology.org/ontology/OMIM/MTHU011890 http://purl.bioontology.org/ontology/OMIM/MTHU011894 http://purl.bioontology.org/ontology/OMIM/MTHU011888 http://purl.bioontology.org/ontology/OMIM/MTHU011892 http://purl.bioontology.org/ontology/OMIM/MTHU000623 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/MTHU004893 http://purl.bioontology.org/ontology/OMIM/MTHU028167 http://purl.bioontology.org/ontology/OMIM/MTHU011893 http://purl.bioontology.org/ontology/OMIM/MTHU011891 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU011895
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	245900
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/E78.6	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/D007863	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D007863	Medical Subject Headings	LOOM