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:NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
go back to main search page
Accession:DOID:9005140 term browser browse the term
Synonyms:exact_synonym: NEDMAS
 primary_id: OMIM:617709;   RDO:9005184
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES ClinVar
OMIM
PMID:25741868 PMID:28236339 NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Neurodevelopmental Disorders 5565
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal dominant disease 3749
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group I 1023
                    microcephaly 872
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES 1
paths to the root