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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:developmental and epileptic encephalopathy 9
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Accession:DOID:0060848 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. (DO)
Synonyms:exact_synonym: DEE9;   EFMR;   EIEE9;   Juberg-Hellman syndrome;   convulsive disorder and mental retardation;   early infantile epileptic encephalopathy 9;   early infantile female-limited epilecptic encephalopathy;   female-restricted epilepsy with mental retardation
 primary_id: MESH:C564715
 alt_id: OMIM:300088
 xref: GARD:10806;   NCI:C201590;   ORDO:101039

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developmental and epileptic encephalopathy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:66,944...80,346 JBrowse link
G Armcx1 armadillo repeat containing X-linked 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:574,939...578,228
Ensembl chrNW_004936813:576,463...577,854 		JBrowse link
G Armcx2 armadillo repeat containing X-linked 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:649,463...655,013
Ensembl chrNW_004936813:649,468...653,615 		JBrowse link
G Armcx3 armadillo repeat containing X-linked 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:622,501...627,335
Ensembl chrNW_004936813:622,520...625,971 		JBrowse link
G Armcx4 armadillo repeat containing X-linked 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:540,574...557,845 JBrowse link
G Armcx6 armadillo repeat containing X-linked 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:614,456...617,354
Ensembl chrNW_004936813:614,521...617,349 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:429,400...467,481
Ensembl chrNW_004936813:429,224...463,441 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:171,187...224,442
Ensembl chrNW_004936813:172,894...244,881 		JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chrNW_004936584:6,042,785...6,066,758
Ensembl chrNW_004936584:6,040,336...6,066,703 		JBrowse link
G Diaph2 diaphanous related formin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chrNW_004936584:2,286,919...3,081,652
Ensembl chrNW_004936584:2,287,288...3,076,788 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:292,408...334,079
Ensembl chrNW_004936813:292,396...334,020 		JBrowse link
G Fam133a family with sequence similarity 133 member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chrNW_004936649:203,082...274,174 JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:484,872...489,822
Ensembl chrNW_004936813:484,872...490,615 		JBrowse link
G Nap1l3 nucleosome assembly protein 1 like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chrNW_004936649:274,677...277,545
Ensembl chrNW_004936649:275,068...276,681 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chrNW_004936584:6,023,960...6,040,041
Ensembl chrNW_004936584:6,024,008...6,039,866 		JBrowse link
G Nxf5 nuclear RNA export factor 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:733,393...874,254 JBrowse link
G Pabpc5 poly(A) binding protein cytoplasmic 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chrNW_004936649:2,195,918...2,201,480 JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chrNW_004936649:1,843,290...1,893,991 JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME OMIM
ClinVar		 PMID:2267240 PMID:5116697 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936584:5,568,740...5,668,095
Ensembl chrNW_004936584:5,568,728...5,668,116 		JBrowse link
G Rpl36a ribosomal protein L36a ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:467,505...470,673 JBrowse link
G Srpx2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chrNW_004936584:5,855,818...5,879,478
Ensembl chrNW_004936584:5,855,818...5,880,259 		JBrowse link
G Sytl4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chrNW_004936584:5,882,428...5,945,514
Ensembl chrNW_004936584:5,884,193...5,917,300 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:357,571...378,479
Ensembl chrNW_004936813:357,571...372,736 		JBrowse link
G Tgif2lx TGFB induced factor homeobox 2 like X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:25741868 NCBI chrNW_004936649:3,483,325...3,484,008 JBrowse link
G Timm8a translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:425,613...428,722
Ensembl chrNW_004936813:425,613...428,702 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:150,204...167,931
Ensembl chrNW_004936813:150,081...167,945 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chrNW_004936584:5,803,309...5,818,643
Ensembl chrNW_004936584:5,803,309...5,818,647 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:93,738...130,928
Ensembl chrNW_004936813:94,441...129,010 		JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:21053371 PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 NCBI chrNW_004936584:5,842,549...5,848,533
Ensembl chrNW_004936584:5,840,312...5,848,622 		JBrowse link
G Xkrx XK related X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 ClinVar PMID:28492532 NCBI chrNW_004936813:22,094...34,529
Ensembl chrNW_004936813:22,094...34,529 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      electroclinical syndrome 1253
        developmental and epileptic encephalopathy 905
          developmental and epileptic encephalopathy 9 31
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              developmental disorder of mental health 5072
                specific developmental disorder 4193
                  intellectual disability 4008
                    developmental and epileptic encephalopathy 9 31
paths to the root