autosomal recessive osteopetrosis 3

Summary

DOID:0110941 - autosomal recessive osteopetrosis 3

Disease Ontology Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.

Synonyms: Guibaud-Vainsel syndrome, OPTB3, autosomal recessive osteopetrosis 3 with renal tubular acidosis, carbonic anhydrase II deficiency, marble brain disease, osteopetrosis with renal tubular acidosis,

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

: ca2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009818 - autosomal recessive osteopetrosis 3

MONDO:0009818 - autosomal recessive osteopetrosis 3

Other Model Organisms: AGR, 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)