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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.



show annotations for term's descendants           Sort by:
 
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:14645240 PMID:19235232 PMID:22393170 More... NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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:17436247 PMID:25152457 PMID:25741868 PMID:28492532 PMID:32077105 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130
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:16199547 More... NCBI chr 2:185,906,964...185,936,160
Ensembl chr 2:185,906,966...185,935,944
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 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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 More... NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        inherited metabolic disorder 2663
          amino acid metabolic disorder 447
            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 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          inherited metabolic disorder 2663
            amino acid metabolic disorder 447
              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