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ONTOLOGY REPORT - ANNOTATIONS


Term:Simpson-Golabi-Behmel syndrome type 1
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Accession:DOID:0060248 term browser browse the term
Definition:A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26. (DO)
Synonyms:exact_synonym: Bulldog syndrome;   DGSX;   DGSX Golabi-Rosen syndrome;   Golabi-Rosen syndrome;   SDYS;   SGB syndrome;   SGBS;   SGBS1;   Sara Angers syndrome;   Simpson dysmorphia syndrome;   Simpson dysplasia syndrome;   Simpson syndrome;   Simpson-Golabi-Behmel syndrome;   dysplasia gigantism syndrome, X-linked;   mental retardation-overgrowth syndrome
 primary_id: MESH:C537340
 alt_id: OMIM:312870
 xref: GARD:7649;   NCI:C118787;   ORDO:373
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Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc3 glypican 3 JBrowse link X 139,579,268 139,947,093 RGD:7240710
RGD:8554872
G Gpc4 glypican 4 JBrowse link X 139,354,325 139,464,876 RGD:11554173
G Retsat retinol saturase JBrowse link 4 100,465,365 100,474,128 RGD:11554173

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Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Simpson-Golabi-Behmel syndrome type 1 3
Path 2
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  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            thalamic disease 189
              hypothalamic disease 189
                pituitary gland disease 146
                  hyperpituitarism 34
                    Gigantism 9
                      Simpson-Golabi-Behmel syndrome type 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.