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Term:Bowen-Conradi syndrome
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Accession:DOID:0050684 term browser browse the term
Definition:An autosomal recessive disease that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: BOWEN HUTTERITE SYNDROME;   BWCNS;   Bowen-Conradi Hutterite syndrome
 primary_id: MESH:C537081;   RDO:0002854
 alt_id: OMIM:211180
 xref: GARD:5950
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Bowen-Conradi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emg1 EMG1 N1-specific pseudouridine methyltransferase JBrowse link 4 157,222,366 157,230,647 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Bowen-Conradi syndrome 1
Path 2
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  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                Bowen-Conradi syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.