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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
 alt_id: RDO:0009861
 xref: GARD:13708;   NCI:C164675;   ORDO:280558
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:613398
ClinVar Annotator: match by term: Warsaw breakage syndrome
OMIM
ClinVar
PMID:20137776, PMID:23033317, PMID:25741868, PMID:26089203, PMID:30216658 NCBI chr 9:114,113,642...114,133,908
Ensembl chr 9:114,111,580...114,132,492
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Warsaw breakage syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                Warsaw breakage 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.