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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:Silver-Russell syndrome
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Accession:DOID:14681 term browser browse the term
Definition:Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
Synonyms:exact_synonym: RSS;   SRS;   Silver Russell dwarfism
 primary_id: MESH:D056730
 xref: GARD:4870;   NCI:C85068;   OMIM:PS180860
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 Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:24624461 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: Russell-Silver syndrome ClinVar NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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 Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Russell-Silver syndrome 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Russell-Silver syndrome
CTD
ClinVar
PMID:19066168 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: Russell-Silver syndrome 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: Russell-Silver syndrome 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: Russell-Silver syndrome 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: Growth restriction, severe, with distinctive facies OMIM
ClinVar
PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067 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: Growth restriction, severe, with distinctive facies ClinVar PMID:25741868 PMID:26154720 PMID:28848601 PMID:30152198 PMID:30400067 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: SILVER-RUSSELL SYNDROME 4 OMIM
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 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:25809938 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 17205
    syndrome 8125
      Silver-Russell syndrome 8
        Russell-Silver Syndrome, X-Linked 0
        Silver-Russell Syndrome 1 0
        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 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              Dwarfism 495
                Silver-Russell syndrome 8
                  Russell-Silver Syndrome, X-Linked 0
                  Silver-Russell Syndrome 1 0
                  Silver-Russell Syndrome 2 0
                  Silver-Russell Syndrome 3 2
                  Silver-Russell Syndrome 4 1
                  Silver-Russell Syndrome 5 1
paths to the root