obsolete_AICA-ribosiduria true OMIM:608688 ICD10:E79.8 5-amino-4-imidazole carboxamide ribosiduria http://purl.obolibrary.org/obo/MONDO_0012099 AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness. Replaced with Mondo term. 3.41.0 ATIC deficiency orphanet