has material basis in germline mutation in CA2 autosomal recessive osteopetrosis 3 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3 https://www.malacards.org/card/osteopetrosis_autosomal_recessive_3_2 Guibaud Vainsel syndrome Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. osteopetrosis autosomal recessive 3 Guibaud-Vainsel syndrome mixed RTA Orphanet:2785 ICD9:588.89 DOID:0110941 UMLS:C0345407 SCTID:254122007 OPTB3 renal tubular acidosis type 3 MEDGEN:91042 mixed renal tubular acidosis osteopetrosis with renal tubular acidosis autosomal recessive osteopetrosis type 3 Autosomal Recessive osteopetrosis, type 3 marble brain disease MONDO:0009818 osteopetrosis (disease) caused by mutation in CA2 MESH:C536058 OMIM:259730 NCIT:C118438 carbonic anhydrase II deficiency CA2 osteopetrosis (disease) osteopetrosis, autosomal recessive 3, with renal tubular acidosis carbonic anhydrase 2 deficiency osteopetrosis, autosomal recessive 3 GARD:0004154 osteopetrosis, autosomal recessive type 3 osteopetrosis autosomal recessive osteopetrosis