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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    sensory system disease 4233
      skin disease 2246
        Skin Abnormalities 340
          Prolidase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4233
          skin disease 2246
            Genetic Skin Diseases 576
              Prolidase Deficiency 1
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