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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:Warburg micro syndrome 2
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Accession:DOID:0110717 term browser browse the term
Definition:A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. (DO)
Synonyms:exact_synonym: MICRO SYNDROME 2;   WARBM2
 primary_id: OMIM:614225
 alt_id: RDO:9000855
For additional species annotation, visit the Alliance of Genome Resources.



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Warburg micro syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by OMIM:614225
ClinVar Annotator: match by term: Warburg micro syndrome 2
OMIM
ClinVar
PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      Warburg micro syndrome 4
        Warburg micro syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group I 1053
                    microcephaly 896
                      Warburg micro syndrome 4
                        Warburg micro syndrome 2 1
paths to the root