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AttributesValues
rdf:type
rdfs:label
  • Prolidase Deficiency
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Prolidase Deficiency
UMLS_CUI
  • C0268532
FULL_SYN
  • Prolidase DeficiencyPTNCI
DEFINITION
  • A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infections, and skeletal abnormalities.NCI
code
  • C85029
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