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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 50
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Accession:DOID:0080419 term browser browse the term
Definition:A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: CDG syndrome type Iz;   CDG-Iz;   CDG1Z;   DEE50;   EIEE50;   carbohydrate deficient glycoprotein syndrome type Iz;   congenital disorder of glycosylation type 1Z;   congenital disorder of glycosylation type Iz;   early infantile epileptic encephalopathy 50
 primary_id: OMIM:616457
 xref: GARD:13621;   ORDO:448010
For additional species annotation, visit the Alliance of Genome Resources.


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developmental and epileptic encephalopathy 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1z
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 50
OMIM
ClinVar
PMID:25678555 PMID:25741868 PMID:28007989 PMID:28492532 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital disorder of glycosylation 181
        developmental and epileptic encephalopathy 50 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            epilepsy 1877
              electroclinical syndrome 655
                neonatal period electroclinical syndrome 495
                  early infantile epileptic encephalopathy 486
                    developmental and epileptic encephalopathy 50 1
paths to the root