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ONTOLOGY REPORT - ANNOTATIONS


Term:PSAT deficiency
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Accession:DOID:0050723 term browser browse the term
Definition:A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
Synonyms:exact_synonym: PSATD;   Phosphoserine Aminotransferase Deficiency
 primary_id: MESH:C567032;   RDO:0015219
 alt_id: OMIM:610992
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PSAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 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
          PSAT deficiency 1
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
                    PSAT deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.