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RGD uses the Human Disease Ontology (DO, 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 type 2
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Accession:DOID:0080543 term browser browse the term
Definition:A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency;   1-pyrroline-5-carboxylate dehydrogenase deficiency;   HPII;   HYRPRO2;   deficiency of pyrroline-5-carboxylate reductase;   hyperprolinemia type II;   pyrroline-5-carboxylate dehydrogenase deficiency
 primary_id: MESH:C538385
 alt_id: OMIM:239510
 xref: ORDO:79101
For additional species annotation, visit the Alliance of Genome Resources.

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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
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          amino acid metabolic disorder 432
            hyperprolinemia 3
              hyperprolinemia type 2 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                hyperprolinemia type 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.