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ONTOLOGY REPORT - ANNOTATIONS


Term:prolidase deficiency
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Accession:DOID:0111540 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;   peptidase deficiency
 primary_id: MESH:D056732
 alt_id: DOID:9008654;   OMIM:170100
 xref: GARD:7473;   ORDO:742
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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 15503
    sensory system disease 4666
      skin disease 2495
        Genetic Skin Diseases 763
          prolidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          monogenic disease 4811
            autosomal genetic disease 3787
              autosomal recessive disease 2159
                prolidase deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.