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Osteopetrosis with renal tubular acidosis

Go to external page http://www.orpha.net/ORDO/Orphanet_2785


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.

Synonyms: Mixed renal tubular acidosis Guibaud-Vainsel syndrome Renal tubular acidosis type 3 Carbonic anhydrase 2 deficiency Marble brain disease Mixed RTA

This is just here as a test because I lose it

Term information

database cross reference
hasDbXref

OMIM:267200

ICD-10:Q78.2

MeSH:C536058

UMLS:C1849435

OMIM:259730

notation

ORPHA:2785