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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:Bowen-Conradi syndrome
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Accession:DOID:0050684 term browser browse the term
Definition:A syndrome 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: BWCNS;   Bowen Hutterite syndrome;   Bowen-Conradi Hutterite syndrome
 primary_id: MESH:C537081
 alt_id: OMIM:211180
 xref: GARD:5950;   ORDO:1270
For additional species annotation, visit the Alliance of Genome Resources.


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Bowen-Conradi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by OMIM:211180 OMIM
ClinVar
PMID:19463982 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Bowen-Conradi syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal recessive disease 3443
                Bowen-Conradi syndrome 1
paths to the root