Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	HYPERCHOLESTEROLEMIA, FAMILIAL
Synonyms	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
ID	http://purl.bioontology.org/ontology/OMIM/143890
altLabel	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 FHC FH HYPERLIPOPROTEINEMIA, TYPE IIA HYPERLIPOPROTEINEMIA, TYPE II HYPER-LOW-DENSITY-LIPOPROTEINEMIA LDLCQ2 LDL RECEPTOR DISORDER HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
cui	C3276941 C0745103
Gene Locus	19p13.2
Gene Symbol	FHC FH LDLCQ2 LDLR
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU017803 http://purl.bioontology.org/ontology/OMIM/MTHU017801 http://purl.bioontology.org/ontology/OMIM/MTHU017802 http://purl.bioontology.org/ontology/OMIM/MTHU017800 http://purl.bioontology.org/ontology/OMIM/MTHU017806 http://purl.bioontology.org/ontology/OMIM/MTHU017804 http://purl.bioontology.org/ontology/OMIM/MTHU027135 http://purl.bioontology.org/ontology/OMIM/MTHU014013
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	144400
notation	143890
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPERCHOLESTEROLEMIA, FAMILIAL
tui	T033 T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D006938	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/ICD10CM/E78.00	International Classification of Diseases, Version 10 - Clinical Modification	CUI