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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;   ORDO:101039
For additional species annotation, visit the Alliance of Genome Resources.



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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 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
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9
OMIM
ClinVar
PMID:2267240 PMID:5116697 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524
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:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195
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:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634
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:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      electroclinical syndrome 704
        developmental and epileptic encephalopathy 532
          developmental and epileptic encephalopathy 9 4
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    developmental and epileptic encephalopathy 9 4
paths to the root