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Osteopetrosis with renal tubular acidosis MeSH Supplementary Concept Data 2025


MeSH Supplementary
Osteopetrosis with renal tubular acidosis
Unique ID
C536058
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536058
Entry Term(s)
Carbonic Anhydrase II Deficiency
Carbonic anhydrase 2 deficiency
Guibaud Vainsel syndrome
Guibaud-Vainsel Syndrome
Marble brain disease
Osteopetrosis, Autosomal Recessive 3
Registry Numbers
0
Heading Mapped to
*Acidosis, Renal Tubular
Carbonic Anhydrases / deficiency
*Osteopetrosis
*Urea Cycle Disorders, Inborn
Frequency
8
Date of Entry
2010/08/25
Revision Date
2013/11/06
Osteopetrosis with renal tubular acidosis Preferred
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