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Term:congenital disorder of glycosylation type IIm
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Accession:DOID:0070265 term browser browse the term
Definition:A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: CDG IIm;   CDG syndrome type IIm;   CDG2M;   CDGIIm;   EIEE22;   SLC35A2-CDG;   congenital disorder of glycosylation type 2M;   early infantile epileptic encephalopathy 22
 primary_id: OMIM:300896
 alt_id: DOID:0080469;   RDO:9000860
 xref: GARD:12403;   ORDO:356961
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congenital disorder of glycosylation type IIm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc120 coiled-coil domain containing 120 JBrowse link X 15,610,230 15,616,727 RGD:8554872
G Eras ES cell expressed Ras JBrowse link X 15,318,215 15,322,601 RGD:8554872
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:8554872
G Glod5 glyoxalase domain containing 5 JBrowse link X 15,225,645 15,240,458 RGD:8554872
G Gripap1 GRIP1 associated protein 1 JBrowse link X 15,523,929 15,553,702 RGD:8554872
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:8554872
G Kcnd1 potassium voltage-gated channel subfamily D member 1 JBrowse link X 15,506,724 15,520,712 RGD:8554872
G Otud5 OTU deubiquitinase 5 JBrowse link X 15,471,212 15,504,372 RGD:8554872
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor JBrowse link X 15,324,263 15,327,705 RGD:8554872
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase JBrowse link X 15,462,621 15,467,890 RGD:8554872
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:8554872
G Praf2 PRA1 domain family, member 2 JBrowse link X 15,618,324 15,620,992 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:7240710
G Suv39h1 suppressor of variegation 3-9 homolog 1 JBrowse link X 146,532,002 146,533,538 RGD:8554872
G Tfe3 transcription factor binding to IGHM enhancer 3 JBrowse link X 15,574,579 15,587,826 RGD:8554872
G Timm17b translocase of inner mitochondrial membrane 17b JBrowse link X 15,441,369 15,448,452 RGD:8554872
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      electroclinical syndrome 332
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            congenital disorder of glycosylation type IIm 18
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          eye and adnexa disease 2252
            eye disease 2252
              visual pathway disease 649
                visual cortex disease 647
                  visual epilepsy 647
                    childhood onset epileptic encephalopathy 188
                      Infantile or Early Childhood Epileptic Encephalopathy 184
                        early infantile epileptic encephalopathy 181
                          congenital disorder of glycosylation type IIm 18
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.