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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 107
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Accession:DOID:0070393 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. (DO)
Synonyms:exact_synonym: DEE107;   early infantile epileptic encephalopathy 107
 primary_id: OMIM:620033
 alt_id: DOID:9004803
 xref: NCI:C190869


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developmental and epileptic encephalopathy 107 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy-107 OMIM
ClinVar		 PMID:25741868 PMID:26235277 PMID:28097321 PMID:33189936 NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      electroclinical syndrome 1351
        developmental and epileptic encephalopathy 976
          developmental and epileptic encephalopathy 107 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            epilepsy 2802
              electroclinical syndrome 1351
                developmental and epileptic encephalopathy 976
                  developmental and epileptic encephalopathy 107 1
paths to the root