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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 36
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Accession:DOID:0080470 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. (DO)
Synonyms:exact_synonym: ALG13-RELATED CONDITION;   DEE36;   EIEE36;   early infantile epileptic encephalopathy 36
 narrow_synonym: CDG Is;   CDG1S;   CDGIs;   congenital disorder of glycosylation type 1S;   congenital disorder of glycosylation type Is
 primary_id: MIM:300884
 xref: GARD:12401;   NCI:C142803;   ORDO:324422


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developmental and epileptic encephalopathy 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is ClinVar PMID:21653323 PMID:23409301 PMID:25741868 PMID:28492532 PMID:30678654 NCBI chr  X:19,463,146...19,486,526 JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: ALG13-related condition | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 More... NCBI chr  X:107,906,320...107,968,232 JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:107,380,774...107,405,489 JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:106,889,125...106,992,937 JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:107,430,767...107,573,612 JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:111,912,967...112,171,037 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5191
      congenital disorder of glycosylation 584
        congenital disorder of glycosylation type I 301
          developmental and epileptic encephalopathy 36 6
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            epilepsy 2932
              electroclinical syndrome 1517
                neonatal period electroclinical syndrome 1097
                  early infantile epileptic encephalopathy 1076
                    developmental and epileptic encephalopathy 36 6
paths to the root