- Concept UI
- M0528902
- Scope Note
- 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.
- Terms
-
Prolidase Deficiency
Preferred Term
Term UI
T734005
Date01/27/2009
LexicalTag
NON
ThesaurusID
-
Hyperimidodipeptiduria
Term UI
T842341
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Imidodipeptidase Deficiency
Term UI
T842342
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)