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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0009818 - autosomal recessive osteopetrosis 3

OMIM:
OMIM:259730 - OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3

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

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