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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:early infantile epileptic encephalopathy 9
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Accession:DOID:0060848 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_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;   developmental and 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;   ORDO:101039
For additional species annotation, visit the Alliance of Genome Resources.


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early infantile epileptic encephalopathy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by OMIM:300088
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:18234694, PMID:18414213, PMID:18469813, PMID:19214208, PMID:19377476, PMID:19752159, PMID:20713952, PMID:21053371, PMID:21480887, PMID:21519002, PMID:21777234, PMID:22050978, PMID:22267240, PMID:22504056, PMID:22848613, PMID:22946748, PMID:22949144, PMID:23066759, PMID:23334464, PMID:23712037, PMID:23808377, PMID:25326635, PMID:25499160, PMID:25741868, PMID:26467025, PMID:26544041, PMID:26765483, PMID:26954813, PMID:26993267, PMID:27143072, PMID:27179713, PMID:27527380, PMID:27787195, PMID:28492532, PMID:28669061, PMID:28837158, PMID:29056246, PMID:29358611, PMID:29377098, PMID:29655203, PMID:29933145, PMID:29933521, PMID:30287595, PMID:30311386, PMID:30530412, PMID:30828795, PMID:31319225 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037, PMID:27179713, PMID:28492532, PMID:29377098 NCBI chr  X:104,734,035...104,760,658
Ensembl chr  X:104,734,082...104,760,547
JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037, PMID:27179713, PMID:28492532, PMID:29377098 NCBI chr  X:104,684,676...104,700,173
Ensembl chr  X:104,684,676...104,700,173
JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 ClinVar PMID:23712037, PMID:27179713, PMID:28492532, PMID:29377098 NCBI chr  X:104,719,930...104,729,606
Ensembl chr  X:104,719,940...104,726,816
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Neurodevelopmental Disorders 4619
        intellectual disability 2166
          early infantile epileptic encephalopathy 9 4
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            epilepsy 1532
              electroclinical syndrome 395
                neonatal period electroclinical syndrome 254
                  early infantile epileptic encephalopathy 245
                    early infantile epileptic encephalopathy 9 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.