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RGD uses the Human Disease Ontology (DO, 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:Microcephaly, Epilepsy, and Diabetes Syndrome
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Accession:DOID:9002791 term browser browse the term
Synonyms:exact_synonym: MEDS
 primary_id: OMIM:614231;   RDO:9000564
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Microcephaly, Epilepsy, and Diabetes Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by OMIM:614231
ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome
PMID:16972080, PMID:21835305, PMID:22991235, PMID:24138066, PMID:25741868, PMID:28492532 NCBI chr 4:132,140,802...132,152,059
Ensembl chr 4:132,140,802...132,151,740
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Microcephaly, Epilepsy, and Diabetes Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                complex cortical dysplasia with other brain malformations 749
                  Malformations of Cortical Development, Group I 604
                    microcephaly 438
                      Microcephaly, Epilepsy, and Diabetes Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.