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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 48
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Accession:DOID:0080448 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. (DO)
Synonyms:exact_synonym: DEE48;   EIEE48;   early infantile epileptic encephalopathy 48
 primary_id: OMIM:617276

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developmental and epileptic encephalopathy 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27431290 More... NCBI chrNW_004955416:13,927,655...13,956,589
Ensembl chrNW_004955416:13,927,545...13,957,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14196
    syndrome 9376
      electroclinical syndrome 1242
        developmental and epileptic encephalopathy 897
          developmental and epileptic encephalopathy 48 1
Path 2
Term Annotations click to browse term
  disease 14196
    disease of anatomical entity 13851
      nervous system disease 12116
        central nervous system disease 10886
          brain disease 10219
            epilepsy 2603
              electroclinical syndrome 1242
                neonatal period electroclinical syndrome 869
                  early infantile epileptic encephalopathy 849
                    developmental and epileptic encephalopathy 48 1
paths to the root