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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: OMIM:180860;   RDO:0007752
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Silver-Russell syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:8554872
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11554173
G Hmga2 high mobility group AT-hook 2 JBrowse link 7 65,159,944 65,275,408 RGD:8554872
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 RGD:8554872
G Plag1 PLAG1 zinc finger JBrowse link 5 16,788,186 16,842,827 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Silver-Russell syndrome 6
        Russell-Silver Syndrome, X-Linked 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      musculoskeletal system disease 3973
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              Dwarfism 300
                Silver-Russell syndrome 6
                  Russell-Silver Syndrome, X-Linked 0
paths to the root