autosomal dominant osteopetrosis 1

Summary

DOID:0110937 - autosomal dominant osteopetrosis 1

Disease Ontology Definition:An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.

Synonyms: OPTA1, autosomal dominant osteopetrosis type 1,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lrp5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011877 - autosomal dominant osteopetrosis 1

MONDO:0011877 - autosomal dominant osteopetrosis 1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), osteopetrosis (is_a)