Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5
Synonyms

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/603506
altLabel

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

HIGH BONE MASS

EXUDATIVE VITREORETINOPATHY 4, DIGENIC

EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT

LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 7

OSTEOPETROSIS, AUTOSOMAL DOMINANT 1

ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT

LRP5

LR3

OSTEOSCLEROSIS, AUTOSOMAL DOMINANT

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1

VAN BUCHEM DISEASE, TYPE 2

EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE

LRP7
cui

C1843323

C0432252

C4016840

C1866080

C0432273

C1416917

C1843330

C4016838

C4016839

C1866079
Gene Locus

11q13.4
Gene Symbol

OPTA1

BMND1

EVR4

OPPG

LR3

VBCH2

LRP5

LRP7
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/603506.0011

http://purl.bioontology.org/ontology/OMIM/603506.0028

http://purl.bioontology.org/ontology/OMIM/603506.0008

http://purl.bioontology.org/ontology/OMIM/603506.0024

http://purl.bioontology.org/ontology/OMIM/603506.0022

http://purl.bioontology.org/ontology/OMIM/603506.0004

http://purl.bioontology.org/ontology/OMIM/603506.0002

http://purl.bioontology.org/ontology/OMIM/603506.0016

http://purl.bioontology.org/ontology/OMIM/603506.0017

http://purl.bioontology.org/ontology/OMIM/603506.0015

http://purl.bioontology.org/ontology/OMIM/603506.0029

http://purl.bioontology.org/ontology/OMIM/603506.0009

http://purl.bioontology.org/ontology/OMIM/603506.0020

http://purl.bioontology.org/ontology/OMIM/603506.0001

http://purl.bioontology.org/ontology/OMIM/603506.0032

http://purl.bioontology.org/ontology/OMIM/603506.0031

http://purl.bioontology.org/ontology/OMIM/603506.0012

http://purl.bioontology.org/ontology/OMIM/603506.0014

http://purl.bioontology.org/ontology/OMIM/603506.0033

http://purl.bioontology.org/ontology/OMIM/603506.0013

http://purl.bioontology.org/ontology/OMIM/603506.0027

http://purl.bioontology.org/ontology/OMIM/603506.0025

http://purl.bioontology.org/ontology/OMIM/603506.0005

http://purl.bioontology.org/ontology/OMIM/603506.0007

http://purl.bioontology.org/ontology/OMIM/603506.0021

http://purl.bioontology.org/ontology/OMIM/603506.0006

http://purl.bioontology.org/ontology/OMIM/603506.0018

http://purl.bioontology.org/ontology/OMIM/603506.0034

http://purl.bioontology.org/ontology/OMIM/603506.0019

http://purl.bioontology.org/ontology/OMIM/603506.0026

http://purl.bioontology.org/ontology/OMIM/603506.0010

http://purl.bioontology.org/ontology/OMIM/603506.0023

http://purl.bioontology.org/ontology/OMIM/603506.0003

http://purl.bioontology.org/ontology/OMIM/603506.0030
MIMTYPEMEANING

Gene with known sequence
notation

603506
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5
tui

T028

T033

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536056 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536527 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536063 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D060492 Medical Subject Headings LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95414 National Cancer Institute Thesaurus LOOM
http://purl.obolibrary.org/obo/PR_000009925 Protein Ontology LOOM
http://purl.bioontology.org/ontology/MESH/C536748 Medical Subject Headings CUI