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OMIM ID
259730
OMIM term:
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
Alternative terms:
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
CARBONIC ANHYDRASE II DEFICIENCY
GUIBAUD-VAINSEL SYNDROME
MARBLE BRAIN DISEASE
(∗) Location:
8q21.2
(†) Associated OMIM genes:
CA2
(‡) Associated MGI genes:
Car2
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Zebrafish
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