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Diseases

5-Oxoprolinase Deficiency

5-oxoprolinase deficiency

Entity Type
Diseases
Relation Groups
2
Relation Preview
16

Basic Information

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Core Information

Disease Name
5-Oxoprolinase Deficiency
Standard Disease Name
5-oxoprolinase deficiency
MeSH Tree
No data
ICD-10
G12.1

Identifiers

DO ID
No data
MeSH ID
C537111
OMIM ID
211530|614707|211500|211530
UMLS ID
C0796274
HPO ID
No data

Description and Extensions

Description
Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
Related

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