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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 1
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Accession:DOID:0080542 term browser browse the term
Definition:A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. (DO)
Synonyms:exact_synonym: HPI;   HYRPRO1;   Hyperprolinemia Type I;   proline dehydrogenase deficiency;   proline hydrogenase deficiency;   proline oxidase deficiency;   pyrroline-5-carboxylate dehydrogenase deficiency
 primary_id: OMIM:239500
 xref: ORDO:419
For additional species annotation, visit the Alliance of Genome Resources.

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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 dehydrogenase deficiency ClinVar PMID:12217952 PMID:12525555 PMID:15662599 PMID:19736351 PMID:26978485 More... NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
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G Prodh1 proline dehydrogenase 1 ISO ClinVar Annotator: match by term: Proline dehydrogenase deficiency OMIM
PMID:9536098 PMID:11510941 PMID:11891283 PMID:12217952 PMID:12525555 More... NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        inherited metabolic disorder 4645
          amino acid metabolic disorder 801
            hyperprolinemia 3
              hyperprolinemia type 1 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                hyperprolinemia type 1 2
paths to the root