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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:22634751 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17033973 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:28796236 NCBI chr 7:65,159,944...65,275,408
Ensembl chr 7:65,159,944...65,275,408
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 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Plag1 PLAG1 zinc finger ISO ClinVar Annotator: match by term: Russell-Silver syndrome ClinVar PMID:28796236 NCBI chr 5:16,788,186...16,842,827
Ensembl chr 5:16,791,523...16,799,776
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 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
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 5:16,788,186...16,842,827
Ensembl chr 5:16,791,523...16,799,776
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 7:65,159,944...65,275,408
Ensembl chr 7:65,159,944...65,275,408
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Silver-Russell syndrome 7
        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 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              Dwarfism 493
                Silver-Russell syndrome 7
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.