ONTOLOGY REPORT - ANNOTATIONS


Term:Prolidase Deficiency
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Accession:DOID:9008654 term browser browse the term
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.
Synonyms:exact_synonym: Hyperimidodipeptiduria;   Hyperimidodipeptidurias;   Imidodipeptidase Deficiencies;   Imidodipeptidase Deficiency;   Prolidase Deficiencies
 primary_id: MESH:D056732;   RDO:0007754
 alt_id: OMIM:170100
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Prolidase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pepd peptidase D JBrowse link 1 90,820,670 91,285,128 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Skin Abnormalities 344
          Prolidase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Genetic Skin Diseases 580
              Prolidase Deficiency 1
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