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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:Warsaw breakage syndrome
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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


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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:25741914 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 21128
    syndrome 10833
      Warsaw breakage syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                Warsaw breakage syndrome 1
paths to the root