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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Bowen-Conradi syndrome 1
Path 2
Term Annotations click to browse term
  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.