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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 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 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: Hyperprolinemia type 1
ClinVar Annotator: match by term: Proline dehydrogenase deficiency
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 NCBI chr11:87,058,478...87,075,785
Ensembl chr11:87,058,616...87,075,785
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        inherited metabolic disorder 2235
          amino acid metabolic disorder 432
            hyperprolinemia 3
              hyperprolinemia type 1 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                hyperprolinemia type 1 2
paths to the root