5-oxoprolinase deficiency
5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria
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5-oxoprolinase deficiency
Summary
5-oxoprolinase deficiency is a phenotype[1]. It is known by 6 alternative names across languages and contexts.[2]
Key Facts
- 5-oxoprolinase deficiency's instance of is recorded as phenotype[3].
- 5-oxoprolinase deficiency's instance of is recorded as rare disease[4].
- 5-oxoprolinase deficiency's instance of is recorded as class of disease[5].
- 5-oxoprolinase deficiency is a type of amino acid metabolic disorder[6].
- 5-oxoprolinase deficiency is a type of inborn disorder of the gamma-glutamyl cycle[7].
- 5-oxoprolinase deficiency's ICD-9-CM is recorded as 270.8[8].
- 5-oxoprolinase deficiency's genetic association is recorded as OPLAH[9].
- 5-oxoprolinase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/HP_0040142[10].
- 5-oxoprolinase deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_33572[11].
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Definition and Type
Recorded instance of include phenotype[3], rare disease[4], and class of disease[5]. Recorded subclass of include amino acid metabolic disorder[6] and inborn disorder of the gamma-glutamyl cycle[7].
Why It Matters
5-oxoprolinase deficiency is known by 6 alternative names across languages and contexts.[2]