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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:prolidase deficiency
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Accession:DOID:0111540 term browser browse the term
Definition:An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. (DO)
Synonyms:exact_synonym: Hyperimidodipeptiduria;   Imidodipeptidase Deficiencies;   Imidodipeptidase Deficiency;   PEPD-RELATED CONDITION;   hyperimidodipeptidurias;   peptidase deficiency;   prolidase deficiencies
 primary_id: MESH:D056732
 alt_id: OMIM:170100
 xref: GARD:7473;   NCI:C85029;   ORDO:742


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prolidase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pepd peptidase D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency		 OMIM
CTD
ClinVar		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      skin disease 3968
        Skin Abnormalities 1298
          prolidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Skin Abnormalities 1298
                prolidase deficiency 1
paths to the root