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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
For additional species annotation, visit the Alliance of Genome Resources.


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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

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  disease 14759
    syndrome 4210
      Bowen-Conradi syndrome 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal recessive disease 1250
                Bowen-Conradi syndrome 1
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