An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.
Comprehensive, easy-to-understand information about this condition
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severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
MONDO:0007064
adenylosuccinate lyase deficiency
MONDO:0007068
familial juvenile hyperuricemic nephropathy type 1
MONDO:0008073
mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
MONDO:0009636
phosphoribosylpyrophosphate synthetase superactivity
MONDO:0010395
Charcot-Marie-Tooth disease X-linked recessive 5
MONDO:0010699