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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 95
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Accession:DOID:0070382 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. (DO)
Synonyms:exact_synonym: DEE95;   GPI biosynthesis defect-18;   GPIBD18;   early infantile epileptic encephalopathy 95;   glycosylphosphatidylinositol biosynthesis defect 18
 alt_id: DOID:9004284
 xref: MIM:618143;   MONDO:0029140


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developmental and epileptic encephalopathy 95 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigs phosphatidylinositol glycan anchor biosynthesis, class S ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 OMIM
ClinVar		 PMID:25741868 PMID:30269814 PMID:33410539 NCBI chr10:63,222,611...63,237,190
Ensembl chr10:63,222,572...63,237,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      electroclinical syndrome 1510
        developmental and epileptic encephalopathy 1119
          developmental and epileptic encephalopathy 95 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            epilepsy 2995
              electroclinical syndrome 1510
                developmental and epileptic encephalopathy 1119
                  developmental and epileptic encephalopathy 95 1
paths to the root