autosomal recessive osteopetrosis 7

Summary

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

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

: tnfrsf11a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012859 - autosomal recessive osteopetrosis 7

MONDO:0012859 - autosomal recessive osteopetrosis 7

MIM:

MIM:612301 - OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7

MIM:612301 - OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7

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)