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Echinobase
Summary Literature (0)
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,

Echinobase Genes :


OMIM:
MIM:259710 - osteopetrosis, autosomal recessive 2; optb2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteopetrosis (is_a)