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prolidase deficiency - Ontology Report - Rat Genome Database

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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: MIM: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 N Pepd peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency OMIM
ClinVar		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chrNW_004624794:9,602,497...9,724,260
Ensembl chrNW_004624794:9,602,487...9,724,260 		JBrowse link
G G PEPD peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency OMIM
ClinVar		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr 6:28,427,940...28,562,554
Ensembl chr 6:28,427,912...28,553,316 		JBrowse link
G P PEPD peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency OMIM
ClinVar		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr 6:43,177,063...43,290,389
Ensembl chr 6:43,177,062...43,290,369 		JBrowse link
G S Pepd peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency OMIM
ClinVar		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chrNW_004936570:2,315,981...2,431,878
Ensembl chrNW_004936570:2,315,954...2,431,884 		JBrowse link
G D PEPD peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency OMIM
ClinVar		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr 1:118,662,560...118,773,193
Ensembl chr 1:118,662,626...118,773,153 		JBrowse link
G B PEPD peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency OMIM
ClinVar		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr19:30,309,243...30,450,279
Ensembl chr19:39,053,917...39,193,991 		JBrowse link
G C Pepd peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency OMIM
ClinVar		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chrNW_004955468:3,147,871...3,277,294
Ensembl chrNW_004955468:3,146,521...3,277,294 		JBrowse link
G R Pepd peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr 1:96,673,624...96,818,197
Ensembl chr 1:87,536,609...87,681,231 		JBrowse link
G M Pepd peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr 7:34,611,832...34,744,131
Ensembl chr 7:34,611,804...34,744,133 		JBrowse link
G H PEPD peptidase D IAGP
EXP		 ClinVar Annotator: match by term: Prolidase deficiency
ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      skin disease 49602
        Skin Abnormalities 13359
          prolidase deficiency 10
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            skin disease 49602
              Skin Abnormalities 13359
                prolidase deficiency 10
paths to the root