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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
 broad_synonym: PSAT1-RELATED DISORDER
 primary_id: MESH:C567032
 alt_id: OMIM:610992


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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 IAGP
EXP		 ClinVar Annotator: match by term: PSAT deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PSAT deficiency | ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    physical disorder 7158
      congenital nervous system abnormality 1976
        microcephaly 1528
          PSAT deficiency 1
Path 2
Term Annotations click to browse term
  disease 35753
    Developmental Disease 28609
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24645
        genetic disease 23839
          monogenic disease 18585
            autosomal genetic disease 16856
              autosomal dominant disease 10967
                complex cortical dysplasia with other brain malformations 2181
                  Malformations of Cortical Development, Group I 1869
                    microcephaly 1528
                      PSAT deficiency 1
paths to the root