Disease Aliases (18) | Adenylosuccinate lyase deficiency Adsl deficiency Adsld Asase - adenylosuccinate lyase deficiency Adenylosuccinase deficiency Adenylosuccinate deficiency Adenylosuccinate lyase deficiency type 1 Adenylosuccinate lyase deficiency type 2 Adenylosuccinate lyase deficiency type 3 Adenylosuccinate lyase deficiency type 4 Deficiency of adenylosuccinate lyase Succinyladenosinuria Succinylpurinemic autism Adenylosuccinase deficiency; adsld Adenylosuccinase lyase deficiency Inborn (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity disorder Inborn error of (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity Rare inborn error of (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity |
Associated Genes (1) NCBI-RefSeq: ADSL (Adenylosuccinate lyase) External Links: gnomAD browser Ensembl GeneCards
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Cross-references of Adenylosuccinate lyase deficiency | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |