Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

Synonyms

APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE

ID

http://purl.bioontology.org/ontology/OMIM/144010

altLabel

APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE

HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B

APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE

cui

C1704417

C3888316

Gene Locus

2p24

Gene Symbol

FLDB

LDLCQ4

APOB

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

144010

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

tui

T047

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http://purl.bioontology.org/ontology/MESH/D006938 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/E78.2 International Classification of Diseases, Version 10 - Clinical Modification CUI