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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 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Bowen-Conradi syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                Bowen-Conradi syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.