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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

Término preferido

Prolidase Deficiency  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

  • Hyperimidodipeptiduria
  • Imidodipeptidase Deficiency

En otras lenguas

URI

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

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RDF/XML TURTLE JSON-LD Creado 6/7/09, última modificación 8/7/13