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Autosomal Recessive Osteopetrosis 3 (MONDO:0009818)

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

Overview

Category

disorder of orbital region

musculoskeletal system disorder

disorder of visual system

Ontology ID

MONDO:0009818

Internal:11026

Synonyms

Autosomal Recessive osteopetrosis, type 3

CA2 osteopetrosis (disease)

Guibaud-Vainsel syndrome

OPTB3

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

Mapped terms

DOID:0110941

GARD:0004154

ICD9:588.89

MEDGEN:91042

MESH:C536058

NCIT:C118438

OMIM:259730

Orphanet:2785

SCTID:254122007

UMLS:C0345407

Child terms

Unknown children.

Results

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