Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   NCI:C190868;   ORDO:448010



show annotations for term's descendants           Sort by:
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: Developmental and epileptic encephalopathy, 50
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25678555 PMID:25741868 More... NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital disorder of glycosylation 539
        developmental and epileptic encephalopathy 50 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            epilepsy 2802
              electroclinical syndrome 1351
                neonatal period electroclinical syndrome 950
                  early infantile epileptic encephalopathy 929
                    developmental and epileptic encephalopathy 50 1
paths to the root