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ONTOLOGY REPORT - ANNOTATIONS


Term:Warburg micro syndrome 1
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Accession:DOID:0110716 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 RAB3GAP1 gene on chromosome 2q21. (DO)
Synonyms:exact_synonym: Micro Syndrome 1;   WARBM1
 primary_id: OMIM:600118;   RDO:9004359
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Warburg micro syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:7240710
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      Warburg micro syndrome 5
        Warburg micro syndrome 1 2
Path 2
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  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal dominant disease 2156
                complex cortical dysplasia with other brain malformations 488
                  Malformations of Cortical Development, Group I 344
                    microcephaly 216
                      Warburg micro syndrome 5
                        Warburg micro syndrome 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.