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ONTOLOGY REPORT - ANNOTATIONS


Term:PHGDH deficiency
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Accession:DOID:0050722 term browser browse the term
Definition:A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO)
Synonyms:exact_synonym: PHGDHD;   phosphoglycerate dehydrogenase deficiency
 primary_id: MESH:C566618
 alt_id: OMIM:601815;   RDO:0014928
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PHGDH deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 JBrowse link 2 200,452,623 200,480,785 RGD:8554872
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    physical disorder 730
      congenital nervous system abnormality 291
        microcephaly 203
          PHGDH deficiency 2
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        sensory system disease 4249
          eye and adnexa disease 1980
            eye disease 1980
              visual pathway disease 501
                visual cortex disease 500
                  visual epilepsy 500
                    PHGDH deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.