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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: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. (DO)
Synonyms:exact_synonym: PSATD;   Phosphoserine Aminotransferase Deficiency
 primary_id: MESH:C567032;   RDO:0015219
 alt_id: OMIM:610992
For additional species annotation, visit the Alliance of Genome Resources.



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PSAT deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by OMIM:610992
ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency
OMIM
ClinVar
PMID:17436247 PMID:25741868 PMID:28492532 PMID:32077105 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital nervous system abnormality 1043
        microcephaly 897
          PSAT deficiency 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      PSAT deficiency 1
paths to the root