prolidase deficiency
An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0019520
obsolete syndromic lymphedema (obsolete MONDO:0019520)
excluded_subClassOf
MONDO:0019232
inborn disorder of peptide metabolism
is_a
Imidodipeptidase deficiency
related
Peptidase deficiency
related
hyperimidodipeptiduria
exact
prolidase deficiency
exact