ONTOLOGY REPORT - ANNOTATIONS


Term:FG syndrome
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Accession:DOID:14711 term browser browse the term
Definition:An X-linked recessive disease 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: FG syndrome 1;   FG syndrome 2;   FG syndrome 3;   FG syndrome 4;   FGS;   FGS1;   FGS2;   FGS3;   FGS4;   Keller 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;   Mental Retardation, X-Linked, Cask-Related;   OKS;   Opitz-Kaveggia syndrome;   X-linked mental retardation, with nystagmus
 narrow_synonym: X-linked mental retardation, with or without nystagmus
 broad_synonym: CASK-RELATED DISORDER
 primary_id: MESH:C537923
 alt_id: OMIM:300321;   OMIM:300406;   OMIM:300422;   OMIM:305450;   RDO:0003840
 xref: GARD:2317;   ORDO:93932
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FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872
RGD:11576290
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11554173
G Gpr34 G protein-coupled receptor 34 JBrowse link X 10,022,986 10,043,504 RGD:8554872
G Gpr82 G protein-coupled receptor 82 JBrowse link X 9,992,832 10,001,036 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:11554173
RGD:12910948
RGD:12910952
G Med14 mediator complex subunit 14 JBrowse link X 10,964,035 11,082,403 RGD:8554872
G Mpc1l mitochondrial pyruvate carrier 1-like JBrowse link X 11,098,849 11,105,312 RGD:8554872
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:8554872
G RGD1565685 similar to RIKEN cDNA 1810030O07 JBrowse link X 11,082,668 11,105,588 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      FG syndrome 13
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        FG syndrome 13
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.