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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 2
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Accession:DOID:0080467 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: CDKL5 disorder;   CDKL5-RELATED CONDITION;   DEE2;   EIEE2;   ISSX2;   Rett syndrome, variant, with infantile spasms;   X-linked dominant infantile spasm syndrome-2;   X-linked infantile spasm syndrome 2;   atypical Rett Syndrome, CDKL5-related;   early infantile epileptic encephalopathy 2
 primary_id: MESH:C564064
 alt_id: OMIM:300672
 xref: NCI:C147070

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show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955586:359,573...477,277
Ensembl chrNW_004955586:359,567...479,325 		JBrowse link
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chrNW_004955427:13,868,683...13,922,028
Ensembl chrNW_004955427:13,868,171...13,922,028 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955509:383,083...435,163
Ensembl chrNW_004955509:381,959...417,347 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chrNW_004955519:104,726...155,418 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 severity ISO ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: CDKL5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10533068 PMID:15492925 PMID:15499549 PMID:15689447 More... RGD:12791015 NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955509:577,975...594,028
Ensembl chrNW_004955509:577,975...594,028 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955586:5,856...99,662
Ensembl chrNW_004955586:5,345...99,534 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955509:447,053...568,590
Ensembl chrNW_004955509:450,486...494,290 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chrNW_004955519:596,216...919,352
Ensembl chrNW_004955519:599,682...918,762 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955586:98,492...114,927
Ensembl chrNW_004955586:97,172...114,928 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955586:482,353...549,512
Ensembl chrNW_004955586:482,353...552,616 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955586:597,620...761,433
Ensembl chrNW_004955586:597,164...760,136 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chrNW_004955519:494,463...553,839
Ensembl chrNW_004955519:494,463...553,839 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955509:600,415...701,833
Ensembl chrNW_004955509:600,284...701,837 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chrNW_004955519:578,343...591,299 JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chrNW_004955519:16,839...84,226
Ensembl chrNW_004955519:3,696...84,237 		JBrowse link
G Sh3kbp1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chrNW_004955509:6,157...344,930
Ensembl chrNW_004955509:4,960...345,012 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chrNW_004955415:20,133,361...20,218,840
Ensembl chrNW_004955415:20,133,201...20,219,023 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      Rett syndrome 32
        developmental and epileptic encephalopathy 2 18
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              developmental disorder of mental health 4976
                specific developmental disorder 4103
                  intellectual disability 3919
                    X-Linked Intellectual Developmental Disorders 710
                      Rett syndrome 32
                        developmental and epileptic encephalopathy 2 18
paths to the root