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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 85
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Accession:DOID:0070380 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: DEE85;   EIEE85;   developmental and epileptic encephalopathy-85 with or without midline brain defects;   early infantile epileptic encephalopathy 85;   early infantile epileptic encephalopathy 85, with or without midline brain defects
 broad_synonym: SMC1A-RELATED COHESINOPATHY
 primary_id: OMIM:301044
 alt_id: DOID:9008619
 xref: NCI:C202548


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developmental and epileptic encephalopathy 85 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 85, with or without midline brain defects | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS OMIM
ClinVar		 PMID:17273969 PMID:19701948 PMID:25741868 PMID:26358754 PMID:26386245 More... NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      electroclinical syndrome 1356
        developmental and epileptic encephalopathy 981
          developmental and epileptic encephalopathy 85 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            epilepsy 2809
              electroclinical syndrome 1356
                neonatal period electroclinical syndrome 951
                  early infantile epileptic encephalopathy 930
                    developmental and epileptic encephalopathy 85 1
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