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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.


show annotations for term's descendants           Sort by:
 
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, PMID:8198124, PMID:8900231, PMID:12384772, PMID:15309682, PMID:16470701, PMID:17142620, PMID:19308961, PMID:23516557, PMID:24033266, PMID:25741868, PMID:28062424, PMID:28492532 NCBI chr 1:90,820,670...91,285,128 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      skin disease 2749
        Genetic Skin Diseases 887
          prolidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                prolidase deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.