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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
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  disease 15984
    Pathological Conditions, Signs and Symptoms 8439
      Pathologic Processes 5945
        Growth Disorders 304
          PSPH deficiency 1
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          inherited metabolic disorder 2177
            amino acid metabolic disorder 429
              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.