Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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: DDX11-RELATED CONDITION;   WABS
 primary_id: MIM: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 ClinVar Annotator: match by term: Warsaw breakage syndrome OMIM
ClinVar		 PMID:20137776 PMID:20696886 PMID:23033317 PMID:25741868 PMID:26089203 More... NCBI chr 9:113,204,886...113,309,692
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 19143
    syndrome 11406
      Warsaw breakage syndrome 1
Path 2
Term Annotations click to browse term
  disease 19143
    Developmental Disease 14670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10966
            autosomal genetic disease 10454
              autosomal recessive disease 7129
                Warsaw breakage syndrome 1
paths to the root