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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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:312870
ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 More... RGD:243065142 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 ClinVar PMID:25741868 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:104,653,306...104,662,069
Ensembl chr 4:104,653,155...104,668,310
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    syndrome 10749
      Simpson-Golabi-Behmel syndrome type 1 4
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        central nervous system disease 12373
          brain disease 11610
            disease of mental health 8277
              developmental disorder of mental health 5522
                specific developmental disorder 4484
                  intellectual disability 4275
                    Simpson-Golabi-Behmel syndrome type 1 4
paths to the root