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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: DOID:9007824;   RDO:0004360
 xref: ORDO:419
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hyperprolinemia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dgcr6 DiGeorge syndrome critical region gene 6 JBrowse link 11 87,076,205 87,081,306 RGD:8554872
G Prodh1 proline dehydrogenase 1 JBrowse link 11 87,058,478 87,075,785 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          amino acid metabolic disorder 326
            hyperprolinemia 3
              hyperprolinemia type 1 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                hyperprolinemia type 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.