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Osteopetrosis with renal tubular acidosis

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Name:
Osteopetrosis with renal tubular acidosis
Description:
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
ORPHAcode:
2785
Synonyms:
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
XREF(s):
Orphanet
OMIM
OMIM
MeSH
ICD-10
Analyte(s):
CA2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14