Ribose-5-phosphate isomerase deficiency
human disease
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Summary
Ribose-5-phosphate isomerase deficiency is a rare disease[1]. It draws 522 Wikipedia views per month (rare disease category, ranking #170 of 627).[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: nervous system heredodegenerative disease[4]
- Prevalence: 0.000001[5]
- ICD-9-CM: 277.6[6]
- Genetic association: RPIA[7]
- Age of onset: childhood onset[8]
- Exact match: http://www.orpha.net/ORDO/Orphanet_440706[9]
- Has phenotype: global developmental delay[10], lack of coordination[11]
- P14914: D440706[12]
Why It Matters
Ribose-5-phosphate isomerase deficiency is known by 9 alternative names across languages and contexts.[13]