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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 77
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Accession:DOID:0112213 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in PIGQ on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: DEE77;   EIEE77;   GPIBD19;   MCAHS4;   early infantile epileptic encephalopathy 77;   glycosylphosphatidylinositol biosynthesis defect 19;   multiple congenital anomalies-hypotonia-seizures syndrome 4
 primary_id: OMIM:618548
For additional species annotation, visit the Alliance of Genome Resources.

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developmental and epileptic encephalopathy 77 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77
ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77		 OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31148362 PMID:32588908 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      multiple congenital anomalies-hypotonia-seizures syndrome 6
        developmental and epileptic encephalopathy 77 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            epilepsy 1878
              electroclinical syndrome 655
                neonatal period electroclinical syndrome 495
                  early infantile epileptic encephalopathy 486
                    developmental and epileptic encephalopathy 77 1
paths to the root