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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 chr 7:56,664,757...56,677,000
Ensembl chr 7:57,087,072...57,098,613 		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 chr 7:56,714,583...56,719,640
Ensembl chr 7:57,134,303...57,141,765 		JBrowse link
G LOC100993185 putative phosphoserine phosphatase-like protein 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 chr 7:56,351,434...56,376,714 JBrowse link
G PHKG1 phosphorylase kinase catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr 7:56,693,252...56,706,474
Ensembl chr 7:57,115,921...57,139,516 		JBrowse link
G SUMF2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr 7:56,677,230...56,693,639 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    Pathological Conditions, Signs and Symptoms 12047
      Pathologic Processes 7439
        Growth Disorders 978
          PSPH deficiency 5
Path 2
Term Annotations click to browse term
  disease 15686
    Developmental Disease 13612
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12666
        genetic disease 12315
          inherited metabolic disorder 5569
            amino acid metabolic disorder 1546
              serine deficiency 20
                PSPH deficiency 5
paths to the root