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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 44
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Accession:DOID:0080424 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. (DO)
Synonyms:exact_synonym: DEE44;   EIEE44;   early infantile epileptic encephalopathy 44
 broad_synonym: UBA5-RELATED CONDITION
 primary_id: OMIM:617132
 xref: NCI:C202547


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developmental and epileptic encephalopathy 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad11 acyl-Coenzyme A dehydrogenase family, member 11 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 ClinVar PMID:25741868 NCBI chr 9:103,940,923...104,004,855
Ensembl chr 9:103,940,576...104,004,924 		JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 | ClinVar Annotator: match by term: UBA5-related condition		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 More... NCBI chr 9:103,923,786...103,940,767
Ensembl chr 9:103,923,798...103,940,333 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      electroclinical syndrome 1355
        developmental and epileptic encephalopathy 986
          developmental and epileptic encephalopathy 44 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            epilepsy 2808
              electroclinical syndrome 1355
                neonatal period electroclinical syndrome 960
                  early infantile epileptic encephalopathy 939
                    developmental and epileptic encephalopathy 44 2
paths to the root