ONTOLOGY REPORT - ANNOTATIONS


Term:Simpson-Golabi-Behmel syndrome type 1
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Accession:DOID:0060248 term browser browse the term
Definition:An X-linked recessive disease 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;   Mental Retardation-Overgrowth Syndrome;   SDYS;   SGB syndrome;   SGBS;   SGBS1;   Sara Angers syndrome;   Simpson Dysplasia Syndrome;   Simpson dysmorphia syndrome;   Simpson syndrome;   Simpson-Golabi-Behmel syndrome;   dysplasia gigantism syndrome, X-linked
 primary_id: MESH:C537340
 alt_id: OMIM:312870;   RDO:0003165
 xref: GARD:7649;   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 Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Retsat retinol saturase JBrowse link 4 100,465,365 100,474,128 RGD:11554173

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  disease 14875
    syndrome 4220
      Simpson-Golabi-Behmel syndrome type 1 4
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            thalamic disease 196
              hypothalamic disease 196
                pituitary gland disease 157
                  hyperpituitarism 35
                    Gigantism 12
                      Simpson-Golabi-Behmel syndrome type 1 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.