| Disease Aliases (20) | Autosomal recessive osteopetrosis, type 3 Autosomal recessive osteopetrosis type 3 Ca2 osteopetrosis (disease) Carbonic anhydrase ii deficiency Carbonic anhydrase 2 deficiency Guibaud-vainsel syndrome Guibaud vainsel syndrome Marble brain disease Mixed rta Mixed renal tubular acidosis Optb3 Osteopetrosis with renal tubular acidosis Osteopetrosis autosomal recessive 3 Osteopetrosis, autosomal recessive 3 Renal tubular acidosis type 3 Autosomal recessive osteopetrosis 3 Autosomal recessive osteopetrosis 3 with renal tubular acidosis Osteopetrosis (disease) caused by mutation in ca2 Osteopetrosis, autosomal recessive 3; optb3 Osteopetrosis, autosomal recessive type 3 |
Associated Genes (1) NCBI-RefSeq: CA2 (Carbonic anhydrase 2) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Osteopetrosis with renal tubular acidosis | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |