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Metadata
ID DOID:0110941
Name autosomal recessive osteopetrosis 3
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
Xrefs

GARD:4154

OMIM:259730

Synonyms

autosomal recessive osteopetrosis 3 with renal tubular acidosis [EXACT]

carbonic anhydrase II deficiency [EXACT]

Guibaud-Vainsel syndrome [EXACT]

marble brain disease [EXACT]

OPTB3 [EXACT]

osteopetrosis with renal tubular acidosis [EXACT]

Parent Relationships

is_a osteopetrosis

is_a autosomal recessive disease

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