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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:Microcephaly, Epilepsy, and Diabetes Syndrome 2
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Accession:DOID:9007409 term browser browse the term
Definition:Characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes. Caused by homozygous mutation in the YIPF5 gene on chromosome 5q31. (OMIM)
Synonyms:exact_synonym: MEDS2
 primary_id: OMIM:619278


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Microcephaly, Epilepsy, and Diabetes Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yipf5 Yip1 domain family member 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:33164986 NCBI chrNW_004955415:9,795,214...9,809,871
Ensembl chrNW_004955415:9,795,214...9,812,405
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9281
      Microcephaly, Epilepsy, and Diabetes Syndrome 19
        Microcephaly, Epilepsy, and Diabetes Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15993
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15946
        genetic disease 15936
          monogenic disease 9389
            autosomal genetic disease 8703
              autosomal dominant disease 5722
                complex cortical dysplasia with other brain malformations 1519
                  Malformations of Cortical Development, Group I 1316
                    microcephaly 1085
                      Microcephaly, Epilepsy, and Diabetes Syndrome 19
                        Microcephaly, Epilepsy, and Diabetes Syndrome 2 1
paths to the root