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ONTOLOGY REPORT - ANNOTATIONS


Term:PSPH deficiency
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Accession:DOID:0050724 term browser browse the term
Definition:A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. (DO)
Synonyms:exact_synonym: PSPHD;   phosphoserine phosphatase deficiency
 primary_id: OMIM:614023
 alt_id: RDO:9000684
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PSPH deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14924
    Pathological Conditions, Signs and Symptoms 7743
      Pathologic Processes 4927
        Growth Disorders 244
          PSPH deficiency 1
Path 2
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          inherited metabolic disorder 1780
            amino acid metabolic disorder 315
              serine deficiency 4
                PSPH 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.