Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/607634 http://purl.bioontology.org/ontology/OMIM/607634
Preferred Name	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
Synonyms	OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I OPTA1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I OPTA1
prefLabel	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
Gene Symbol	OPPG PCLD4 LR3 LRP7 BMND1 OPTA1 EVR4 LRP5 See more See less
Scope Statement	Progressive sclerosis with age [MISCELLANEOUS] Caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (LRP5, 603506.0014) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002970 http://purl.bioontology.org/ontology/OMIM/MTHU002966 http://purl.bioontology.org/ontology/OMIM/MTHU002971 http://purl.bioontology.org/ontology/OMIM/MTHU002967 http://purl.bioontology.org/ontology/OMIM/MTHU002969 http://purl.bioontology.org/ontology/OMIM/MTHU002973 http://purl.bioontology.org/ontology/OMIM/MTHU036348 http://purl.bioontology.org/ontology/OMIM/MTHU002972 http://purl.bioontology.org/ontology/OMIM/MTHU036345 http://purl.bioontology.org/ontology/OMIM/MTHU002968 See more See less
tui	T047
Gene Locus	11q13.4
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607634
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1843330
OMIM Entry Type	3
OMIM MimType Value	pound

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