autosomal recessive osteopetrosis 3
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
MONDO:0019026
autosomal recessive osteopetrosis
is_a
Autosomal Recessive osteopetrosis, type 3
exact
CA2 osteopetrosis (disease)
exact
Guibaud Vainsel syndrome
related
Guibaud-Vainsel syndrome
exact
OPTB3
exact
autosomal recessive osteopetrosis type 3
exact
carbonic anhydrase 2 deficiency
exact
carbonic anhydrase II deficiency
exact
marble brain disease
exact
mixed RTA
exact
mixed renal tubular acidosis
exact
osteopetrosis (disease) caused by mutation in CA2
exact
osteopetrosis autosomal recessive 3
related
osteopetrosis with renal tubular acidosis
exact
osteopetrosis, autosomal recessive 3
related
osteopetrosis, autosomal recessive 3, with renal tubular acidosis
exact
osteopetrosis, autosomal recessive type 3
exact
renal tubular acidosis type 3
exact