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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
 broad_synonym: GPC3-RELATED CONDITION
 primary_id: MESH:C537340
 alt_id: MIM: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: GPC3-related condition | 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:136,789,770...137,157,598 JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:131,644,711...131,755,349 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 JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome ClinVar PMID:12595504 PMID:18546297 PMID:25741868 NCBI chr  X:31,647,000...31,687,768 JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:104,653,306...104,662,069 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      Simpson-Golabi-Behmel syndrome type 1 5
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    Simpson-Golabi-Behmel syndrome type 1 5
paths to the root