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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 PEPD on chromosome 19q13.11. (DO)
Synonyms:exact_synonym: Hyperimidodipeptiduria;   Imidodipeptidase Deficiencies;   Imidodipeptidase Deficiency;   hyperimidodipeptidurias;   peptidase deficiency;   prolidase deficiencies
 primary_id: MESH:D056732
 alt_id: OMIM:170100
 xref: GARD:7473;   NCI:C85029;   ORDO:742
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by OMIM:170100
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prolidase deficiency
OMIM
ClinVar
CTD
PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr 1:87,536,650...87,681,233 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        Genetic Skin Diseases 1051
          prolidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                prolidase deficiency 1
paths to the root