Summary Literature (0)

DOID:0110946 - autosomal recessive osteopetrosis 7

Disease Ontology Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.

Synonyms: OPTB7, autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia, autosomal recessive osteopetrosis type 7, osteoclast-poor osteopetrosis with hypogammaglobulinemia, osteopetrosis-hypogammaglobulinemia syndrome,

Echinobase Genes :


OMIM:

MIM:612301 - osteopetrosis, autosomal recessive 7; optb7

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

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