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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: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

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PSPH deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cct6a chaperonin containing TCP1 subunit 6A ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,223,785...8,236,760
Ensembl chrNW_004955456:8,223,774...8,237,966 		JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,260,533...8,265,488
Ensembl chrNW_004955456:8,255,898...8,265,488 		JBrowse link
G Phkg1 phosphorylase kinase catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,251,789...8,259,205
Ensembl chrNW_004955456:8,251,130...8,259,205 		JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency OMIM
ClinVar		 PMID:9222972 PMID:9536098 PMID:14673469 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025 		JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,238,301...8,251,682
Ensembl chrNW_004955456:8,238,318...8,251,366 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11057
      Pathologic Processes 6876
        Growth Disorders 948
          PSPH deficiency 5
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          inherited metabolic disorder 5146
            amino acid metabolic disorder 1418
              serine deficiency 19
                PSPH deficiency 5
paths to the root