GenTIGSA Gene Database on Rare Genetic Disorders
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Hyperammonemic Encephalopathy Due To Carbonic Anhydrase VA Deficiency  
Disease Aliases (9)

Ca-va deficiency

Ca5ad

Hyperammonemia due to carbonic anhydrase va deficiency

Hyperammonemic encephalopathy due to carbonic anhydrase va deficiency

Mitochondrial carbonic anhydrase va deficiency

Carbonic anhydrase 5a deficiency, hyperammonemia due to

Carbonic anhydrase va deficiency, hyperammonemia due to

Carbonic anhydrase va deficiency, hyperammonemia due to; ca5ad

Associated Genes (1)
 

NCBI-RefSeq:  CA5A   (Carbonic anhydrase 5A)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations