|
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 : ca2
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