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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 1
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Accession:DOID:9007898 term browser browse the term
Definition:This disease is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Affected individuals tend to be hyperactive and talkative.
Synonyms:exact_synonym: FGS1;   KELLER SYNDROME;   MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM;   OKS;   OPITZ-KAVEGGIA SYNDROME
 broad_synonym: MED12-RELATED INTELLECTUAL DISABILITY SYNDROME
 primary_id: OMIM:305450


show annotations for term's descendants           Sort by:
FG Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,297,855...100,304,479
Ensembl chr  X:100,298,134...100,304,479 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Gm614 predicted gene 614 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,304,979...100,307,598
Ensembl chr  X:100,304,982...100,307,598 		JBrowse link
G Il2rg interleukin 2 receptor, gamma chain ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,307,991...100,311,861
Ensembl chr  X:100,307,984...100,311,861 		JBrowse link
G Itgb1bp2 integrin beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,492,694...100,520,391
Ensembl chr  X:100,492,694...100,497,147 		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:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,342,785...100,364,956
Ensembl chr  X:100,342,774...100,369,569 		JBrowse link
G Nono non-POU-domain-containing, octamer binding protein ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,473,295...100,492,193
Ensembl chr  X:100,472,924...100,492,197 		JBrowse link
G Slc7a3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,122,752...100,134,058
Ensembl chr  X:100,122,816...100,129,626 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,132,973...100,266,185
Ensembl chr  X:100,141,392...100,266,169 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,576,335...100,644,635
Ensembl chr  X:100,576,340...100,645,395 		JBrowse link
G Tex11 testis expressed gene 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:99,882,254...100,103,245
Ensembl chr  X:99,882,254...100,103,273 		JBrowse link
G Zmym3 zinc finger, MYM-type 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:100,447,990...100,464,986
Ensembl chr  X:100,447,990...100,464,455 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      FG syndrome 15
        FG Syndrome 1 13
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              developmental disorder of mental health 5587
                specific developmental disorder 4534
                  intellectual disability 4335
                    X-Linked Intellectual Developmental Disorders 813
                      FG syndrome 15
                        FG Syndrome 1 13
paths to the root