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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



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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
ISS
ClinVar Annotator: match by term: Bowen-Conradi syndrome
CTD Direct Evidence: marker/mechanism
OMIM:211180
OMIM
ClinVar
CTD
MouseDO
PMID:19463982 PMID:25741868 PMID:28492532 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 21120
    syndrome 10776
      Bowen-Conradi syndrome 1
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            autosomal genetic disease 9457
              autosomal recessive disease 6522
                Bowen-Conradi syndrome 1
paths to the root