Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:Silver-Russell syndrome
go back to main search page
Accession:DOID:14681 term browser browse the term
Definition:A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. (DO)
Synonyms:exact_synonym: RSS;   SRS;   Silver Russell dwarfism
 primary_id: MESH:D056730
 xref: GARD:4870;   MIM:PS180860;   NCI:C85068
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Silver-Russell syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17033973 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO CTD Direct Evidence: marker/mechanism CTD PMID:19066168 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19066168 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265 		JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Pfn3 profilin 3 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,217,595...9,218,122 JBrowse link
G Plag1 PLAG1 zinc finger ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:25741868 NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,308,471...9,310,553
Ensembl chr17:9,308,525...9,310,553 		JBrowse link
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,248,982...9,263,104
Ensembl chr17:9,249,019...9,263,104 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:27172843 NCBI chr17:9,493,787...9,523,681
Ensembl chr17:9,493,803...9,523,635 		JBrowse link
Silver-Russell Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar PMID:24065356 PMID:24624461 PMID:28492532 PMID:31976094 PMID:33076988 NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar PMID:28796236 NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Plag1 PLAG1 zinc finger ISO ClinVar Annotator: match by term: Silver-Russell syndrome 1 ClinVar PMID:28796236 NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647 		JBrowse link
Silver-Russell Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 ClinVar PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 More... NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
Silver-Russell Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plag1 PLAG1 zinc finger ISO ClinVar Annotator: match by term: PLAG1-related condition | ClinVar Annotator: match by term: Silver-russell syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28796236 NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647 		JBrowse link
Silver-Russell Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Silver-Russell syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:25809938 PMID:28492532 PMID:28796236 PMID:29453418 NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      Silver-Russell syndrome 20
        Russell-Silver Syndrome, X-Linked 0
        Silver-Russell Syndrome 1 7
        Silver-Russell Syndrome 2 0
        Silver-Russell Syndrome 3 2
        Silver-Russell Syndrome 4 1
        Silver-Russell Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8488
        connective tissue disease 5958
          bone disease 4411
            bone development disease 2373
              Dwarfism 876
                Silver-Russell syndrome 20
                  Russell-Silver Syndrome, X-Linked 0
                  Silver-Russell Syndrome 1 7
                  Silver-Russell Syndrome 2 0
                  Silver-Russell Syndrome 3 2
                  Silver-Russell Syndrome 4 1
                  Silver-Russell Syndrome 5 1
paths to the root