Prolidase Deficiency
Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.
Year introduced: 2010
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Subheadings:
Tree Number(s): C16.131.077.735, C16.131.831.720, C16.320.565.100.794, C16.320.850.746
MeSH Unique ID: D056732
Entry Terms:
- Deficiencies, Prolidase
- Deficiency, Prolidase
- Prolidase Deficiencies
- Hyperimidodipeptiduria
- Hyperimidodipeptidurias
- Imidodipeptidase Deficiency
- Deficiencies, Imidodipeptidase
- Deficiency, Imidodipeptidase
- Imidodipeptidase Deficiencies
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