Autosomal recessive osteopetrosis 3
Also known as Autosomal Recessive osteopetrosis, type 3, CA2 osteopetrosis (disease), Guibaud-Vainsel syndrome, OPTB3+15 more
Autosomal Recessive osteopetrosis, type 3, CA2 osteopetrosis (disease), Guibaud-Vainsel syndrome, OPTB3, autosomal recessive osteopetrosis 3 with renal tubular acidosis, autosomal recessive osteopetrosis type 3, carbonic anhydrase 2 deficiency, carbonic anhydrase II deficiency, marble brain disease, mixed RTA, mixed renal tubular acidosis, osteopetrosis (disease) caused by mutation in CA2, osteopetrosis with renal tubular acidosis, osteopetrosis, autosomal recessive 3, with renal tubular acidosis, osteopetrosis, autosomal recessive type 3, renal tubular acidosis type 3, Guibaud Vainsel syndrome, osteopetrosis autosomal recessive 3, osteopetrosis, autosomal recessive 3.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
Autosomal Recessive osteopetrosis, type 3, CA2 osteopetrosis (disease), Guibaud-Vainsel syndrome, OPTB3, autosomal recessive osteopetrosis 3 with renal tubular acidosis, autosomal recessive osteopetrosis type 3, carbonic anhydrase 2 deficiency, carbonic anhydrase II deficiency, marble brain disease, mixed RTA, mixed renal tubular acidosis, osteopetrosis (disease) caused by mutation in CA2, osteopetrosis with renal tubular acidosis, osteopetrosis, autosomal recessive 3, with renal tubular acidosis, osteopetrosis, autosomal recessive type 3, renal tubular acidosis type 3, Guibaud Vainsel syndrome, osteopetrosis autosomal recessive 3, osteopetrosis, autosomal recessive 3
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Related entities are derived from literature co-mention (studied together) — associative, not causal.