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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Prolidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Prolidase Deficiency
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Prolidase Deficiency
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Prolidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Prolidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Prolidase Deficiency
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Prolidase Deficiency

Preferred term

Prolidase Deficiency  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Synonym(s)

  • Hyperimidodipeptiduria
  • Imidodipeptidase Deficiency

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-KCR9ZMPB-0

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RDF/XML TURTLE JSON-LD Created 7/6/09, last modified 7/8/13