Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2
Synonyms	DONNAI-BARROW SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/600073
altLabel	DONNAI-BARROW SYNDROME MEGALIN LRP2 GLYCOPROTEIN 330
cui	C1416914 C1857277
Gene Locus	2q24-q31
Gene Symbol	LRP2 DBS
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/600073.0005 http://purl.bioontology.org/ontology/OMIM/600073.0006 http://purl.bioontology.org/ontology/OMIM/600073.0008 http://purl.bioontology.org/ontology/OMIM/600073.0007 http://purl.bioontology.org/ontology/OMIM/600073.0010 http://purl.bioontology.org/ontology/OMIM/600073.0002 http://purl.bioontology.org/ontology/OMIM/600073.0009 http://purl.bioontology.org/ontology/OMIM/600073.0004 http://purl.bioontology.org/ontology/OMIM/600073.0003 http://purl.bioontology.org/ontology/OMIM/600073.0001
MIMTYPEMEANING	Gene with known sequence
notation	600073
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2
tui	T028 T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C536390	Medical Subject Headings	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113302	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/MESH/D026561	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/PR_000009921	Protein Ontology	LOOM