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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, PMID:29300443 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Warburg micro syndrome 5
        Warburg micro syndrome 2 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
                      Warburg micro syndrome 5
                        Warburg micro syndrome 2 1
paths to the root

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