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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 15619
    physical disorder 744
      congenital nervous system abnormality 304
        microcephaly 210
          PHGDH deficiency 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 dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    microcephaly 210
                      PHGDH deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.