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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 15610
    physical disorder 740
      congenital nervous system abnormality 321
        microcephaly 226
          PHGDH deficiency 2
Path 2
Term Annotations click to browse term
  disease 15610
    Developmental Diseases 8988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7804
        genetic disease 7299
          monogenic disease 5000
            autosomal genetic disease 3981
              autosomal dominant disease 2422
                complex cortical dysplasia with other brain malformations 503
                  Malformations of Cortical Development, Group I 357
                    microcephaly 226
                      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.