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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:hyperprolinemia
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Accession:DOID:0080541 term browser browse the term
Definition:An amno acid metabolic disorder that is characterized by the excess of proline in the blood. (DO)
Synonyms:exact_synonym: hyperprolinemias;   prolinemia;   prolinuria;   pyrroline carboxylate dehydrogenase deficiency
 alt_id: DOID:9000614
 xref: GARD:2847
For additional species annotation, visit the Alliance of Genome Resources.


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hyperprolinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by term: Hyperprolinemia ClinVar NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link
hyperprolinemia type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: PROLINE OXIDASE DEFICIENCY
ClinVar Annotator: match by term: Proline dehydrogenase deficiency
ClinVar PMID:12217952, PMID:19736351, PMID:26978485, PMID:28492532 NCBI chr11:87,076,205...87,081,306
Ensembl chr11:87,076,381...87,081,950
JBrowse link
G Prodh1 proline dehydrogenase 1 ISO ClinVar Annotator: match by OMIM:239500
ClinVar Annotator: match by term: Proline dehydrogenase deficiency
ClinVar Annotator: match by term: Hyperprolinemia type 1
ClinVar
OMIM
PMID:11510941, PMID:11891283, PMID:12217952, PMID:15494707, PMID:15662599, PMID:17412540, PMID:19736351, PMID:20524212, PMID:22090377, PMID:24033266, PMID:24842239, PMID:25741868, PMID:26978485, PMID:28492532, PMID:28708303, PMID:30311386 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link
hyperprolinemia type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO ClinVar Annotator: match by OMIM:239510
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperprolinemia type 2
ClinVar Annotator: match by term: Deficiency of pyrroline-5-carboxylate reductase
OMIM
ClinVar
CTD
PMID:2624476, PMID:9700195, PMID:25641190, PMID:25741868, PMID:26822237, PMID:28492532 NCBI chr 5:158,090,238...158,115,725
Ensembl chr 5:158,042,587...158,135,733
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            hyperprolinemia 3
              hyperprolinemia type 1 2
              hyperprolinemia type 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              hyperprolinemia 3
                hyperprolinemia type 1 2
                hyperprolinemia type 2 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.