autosomal recessive osteopetrosis 2

Summary

DOID:0110943 - autosomal recessive osteopetrosis 2

Disease Ontology Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.

Synonyms: OPTB2, mild autosomal recessive form osteopetrosis, osteoclast-poor osteopetrosis,

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

: tnfsf11

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009816 - autosomal recessive osteopetrosis 2

MONDO:0009816 - autosomal recessive osteopetrosis 2

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

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

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