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RGD uses the Human Disease Ontology (DO, 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
PMID:17436247, PMID:25741868, PMID:28492532, PMID:32077105 NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      congenital nervous system abnormality 535
        microcephaly 433
          PSAT deficiency 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      PSAT deficiency 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.