Summary Literature (0)

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,

Echinobase Genes :


OMIM:

MIM:607634 - osteopetrosis, autosomal dominant 1; opta1

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

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