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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
 broad_synonym: PHGDH-RELATED DISORDER
 xref: MESH:C566618;   MIM:601815;   MONDO:0011152


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    physical disorder 2432
      congenital nervous system abnormality 521
        microcephaly 424
          PHGDH deficiency 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        Neurologic Manifestations 5934
          sensory system disease 4800
            eye disease 2086
              visual pathway disease 88
                visual cortex disease 86
                  visual epilepsy 85
                    PHGDH deficiency 1
paths to the root