SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/725289009
http://purl.bioontology.org/ontology/SNOMEDCT/725289009
Preferred Name

5-amino-4-imidazole carboxamide ribosiduria

Definitions
An extremely severe inborn error of purine biosynthesis with clinical characteristics in the single reported case to date of profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows and shoulders and congenital blindness. In the one reported case the disease was caused by compound heterozygous mutation in the ATIC gene on chromosome 2q35.
Synonyms
5-amino-4-imidazole carboxamide ribosiduria (disorder)
AICA (5-amino-4-imidazole carboxamide) ribosiduria
ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency
Type http://www.w3.org/2002/07/owl#Class
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