autosomal recessive osteopetrosis 3

Term ID

DOID:0110941

Synonyms

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

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. https://www.ncbi.nlm.nih.gov/pubmed/1928091

References

• GARD:4154
• MIM:259730

Ontology

Human Disease   ( DOID:0110941 )