Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
Synonyms	OPTA1
ID	http://purl.bioontology.org/ontology/OMIM/607634
altLabel	OPTA1 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
cui	C1843330
Gene Locus	11q13.4
Gene Symbol	OPTA1 BMND1 EVR4 OPPG LR3 VBCH2 LRP5 LRP7
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002969 http://purl.bioontology.org/ontology/OMIM/MTHU002968 http://purl.bioontology.org/ontology/OMIM/MTHU002970 http://purl.bioontology.org/ontology/OMIM/MTHU002966 http://purl.bioontology.org/ontology/OMIM/MTHU036345 http://purl.bioontology.org/ontology/OMIM/MTHU002976 http://purl.bioontology.org/ontology/OMIM/MTHU002972 http://purl.bioontology.org/ontology/OMIM/MTHU029667 http://purl.bioontology.org/ontology/OMIM/MTHU036348 http://purl.bioontology.org/ontology/OMIM/MTHU002967 http://purl.bioontology.org/ontology/OMIM/MTHU002971 http://purl.bioontology.org/ontology/OMIM/MTHU002973 http://purl.bioontology.org/ontology/OMIM/MTHU029668 http://purl.bioontology.org/ontology/OMIM/MTHU029666
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607634
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536056	Medical Subject Headings	CUI