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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:FG syndrome
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Accession:DOID:14711 term browser browse the term
Definition:A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. (DO)
Synonyms:exact_synonym: FGS
 narrow_synonym: Keller syndrome;   OKS;   Opitz-Kaveggia syndrome;   mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum;   mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum
 primary_id: MESH:C537923
 xref: EFO:0009297;   GARD:2317;   OMIM:PS305400;   ORDO:93932
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
FG syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19200522 RGD:11576290 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)
CTD
ClinVar
RGD
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... RGD:12910952, RGD:12910948 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar
PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 More... NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 OMIM
ClinVar
PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar
PMID:18414213 PMID:19200522 PMID:19377476 PMID:20029458 PMID:23871722 More... NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      FG syndrome 5
        FG Syndrome 1 3
        FG Syndrome 2 1
        FG Syndrome 3 0
        FG Syndrome 4 1
        FG Syndrome 5 0
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              developmental disorder of mental health 4927
                specific developmental disorder 4191
                  intellectual disability 3995
                    X-Linked Intellectual Developmental Disorders 757
                      FG syndrome 5
                        FG Syndrome 1 3
                        FG Syndrome 2 1
                        FG Syndrome 3 0
                        FG Syndrome 4 1
                        FG Syndrome 5 0
paths to the root