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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: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 (GPC3) on chromosome Xq26. (DO)
Synonyms:exact_synonym: 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;   bulldog 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 OMIM
ClinVar		 PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 More... NCBI chrNW_004936691:1,060,013...1,459,736
Ensembl chrNW_004936691:1,059,994...1,459,740 		JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936691:1,564,872...1,676,378
Ensembl chrNW_004936691:1,564,833...1,677,482 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 ClinVar PMID:25741868 NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195 		JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chrNW_004936712:1,826,813...1,837,048
Ensembl chrNW_004936712:1,826,923...1,841,141 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Simpson-Golabi-Behmel syndrome type 1 4
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              developmental disorder of mental health 5072
                specific developmental disorder 4193
                  intellectual disability 4008
                    Simpson-Golabi-Behmel syndrome type 1 4
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