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ONTOLOGY REPORT - ANNOTATIONS


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;   DEFICIENCY OF PYRROLINE-5-CARBOXYLATE REDUCTASE;   HPII;   HYRPRO2;   hyperprolinemia type II;   pyrroline-5-carboxylate dehydrogenase deficiency
 primary_id: MESH:C538385
 alt_id: DOID:9005634;   OMIM:239510;   RDO:0004361
 xref: ORDO:79101
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hyperprolinemia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 JBrowse link 5 158,090,238 158,115,725 RGD:7240710
RGD:8554872
RGD:11554173

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Term Annotations click to browse term
  disease 15599
    Nutritional and Metabolic Diseases 4365
      disease of metabolism 4365
        inherited metabolic disorder 1858
          amino acid metabolic disorder 328
            hyperprolinemia 3
              hyperprolinemia type 2 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal recessive disease 1978
                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.