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.
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
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