Disease association ontology term - MONDO:0012099 - AICA-ribosiduria

Term summary

ID

MONDO:0012099

Name

AICA-ribosiduria

Ontology or CV name

Disease association

Definition

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.

Parents

• excluded_subClassOf syndromic intellectual disability
• is_a congenital nervous system disorder
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a developmental anomaly of metabolic origin
• is_a inborn disorder of purine metabolism
• is_a hereditary macular dystrophy

Annotation