Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Warsaw breakage syndrome
go back to main search page
Accession:DOID:0060535 term browser browse the term
Definition:A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. (DO)
Synonyms:exact_synonym: WABS
 primary_id: OMIM:613398
 xref: GARD:13708;   NCI:C164675;   ORDO:280558



show annotations for term's descendants           Sort by:
Warsaw breakage syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx11 DEAD/H-box helicase 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warsaw breakage syndrome
OMIM
CTD
ClinVar
PMID:20137776 PMID:20696886 PMID:23033317 PMID:25741868 PMID:26089203 More... NCBI chr 9:105,833,234...105,862,844
Ensembl chr 9:105,833,504...105,862,550
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      Warsaw breakage syndrome 1
Path 2
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13005
          monogenic disease 10428
            autosomal genetic disease 9587
              autosomal recessive disease 6667
                Warsaw breakage syndrome 1
paths to the root