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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:serine deficiency
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Accession:DOID:0050721 term browser browse the term
Definition:An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. (DO)
Synonyms:primary_id: RDO:9004040
 xref: OMIM:PS256520
For additional species annotation, visit the Alliance of Genome Resources.


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Neu-Laxova syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1
ClinVar Annotator: match by OMIM:256520
OMIM
ClinVar
PMID:11034457 PMID:11055895 PMID:19235232 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
JBrowse link
Neu-Laxova syndrome 2 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 term: Neu-laxova syndrome 2 OMIM
ClinVar
PMID:25152457 PMID:28492532 PMID:32077105 NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
JBrowse link
PHGDH deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH DEFICIENCY ClinVar NCBI chr 2:200,452,623...200,480,785
Ensembl chr 2:200,452,624...200,479,423
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
ClinVar Annotator: match by OMIM:601815
OMIM
ClinVar
PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:19235232 PMID:22393170 PMID:22886422 PMID:24836451 PMID:25741868 PMID:26467025 PMID:26960553 PMID:28135894 PMID:28492532 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
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 term: Phosphoserine aminotransferase deficiency
ClinVar Annotator: match by OMIM:610992
OMIM
ClinVar
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
JBrowse link
PSPH deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency
ClinVar Annotator: match by OMIM:614023
OMIM
ClinVar
PMID:9222972 PMID:14673469 PMID:24146633 PMID:25080166 PMID:25741868 PMID:28492532 NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2358
          amino acid metabolic disorder 448
            serine deficiency 4
              Neu-Laxova syndrome 1 2
              Neu-Laxova syndrome 2 1
              PHGDH deficiency 2
              PSAT deficiency 1
              PSPH deficiency 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          inherited metabolic disorder 2358
            amino acid metabolic disorder 448
              serine deficiency 4
                Neu-Laxova syndrome 1 2
                Neu-Laxova syndrome 2 1
                PHGDH deficiency 2
                PSAT deficiency 1
                PSPH deficiency 1
paths to the root