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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


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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neu-Laxova syndrome 1		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:185,906,962...185,936,054
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 Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181 		JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423 		JBrowse link
G Gnaq G protein subunit alpha q ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17436247 PMID:17576681 PMID:25152457 More... NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Vps13a vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 2 ClinVar PMID:17436247 PMID:25152457 PMID:28492532 NCBI chr 1:213,901,999...214,128,638
Ensembl chr 1:213,901,999...214,128,555 		JBrowse link
PHGDH deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,752,183...185,755,623
Ensembl chr 2:185,752,072...185,755,599 		JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,200,137...186,232,997
Ensembl chr 2:186,200,504...186,224,425 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,875,609...185,903,505
Ensembl chr 2:185,875,616...185,902,130 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,818,946...185,833,252
Ensembl chr 2:185,821,210...185,833,353 		JBrowse link
G Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,576,650...186,687,748
Ensembl chr 2:186,576,676...186,687,663 		JBrowse link
G Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571 		JBrowse link
G Zfp697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:185,970,562...186,003,884
Ensembl chr 2:185,970,576...186,001,041 		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: PSAT deficiency | ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... 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 Cct6a chaperonin containing TCP1 subunit 6A ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr12:26,872,736...26,883,125
Ensembl chr12:26,872,574...26,883,337 		JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755 		JBrowse link
G Phkg1 phosphorylase kinase catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr12:26,838,822...26,854,547
Ensembl chr12:26,838,968...26,852,850 		JBrowse link
G Psph phosphoserine phosphatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency		 OMIM
CTD
ClinVar		 PMID:9222972 PMID:9536098 PMID:14673469 PMID:16199547 PMID:17576681 More... NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          amino acid metabolic disorder 1523
            serine deficiency 21
              Neu-Laxova syndrome 1 2
              Neu-Laxova syndrome 2 5
              PHGDH deficiency 11
              PSAT deficiency 1
              PSPH deficiency 5
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          inherited metabolic disorder 6256
            amino acid metabolic disorder 1523
              serine deficiency 21
                Neu-Laxova syndrome 1 2
                Neu-Laxova syndrome 2 5
                PHGDH deficiency 11
                PSAT deficiency 1
                PSPH deficiency 5
paths to the root