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:Bardet-Biedl syndrome 9
go back to main search page
Accession:DOID:0110131 term browser browse the term
Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. (DO)
Synonyms:exact_synonym: BBS9;   BBS9-RELATED CONDITION
 narrow_synonym: RETINAL VASCULAR DYSTROPHY
 primary_id: MESH:C565918
 alt_id: MIM:615986
 xref: EFO:0009027;   GARD:10208


show annotations for term's descendants           Sort by:
Bardet-Biedl syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs9 Bardet-Biedl syndrome 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BBS9-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 | ClinVar Annotator: match by term: Retinal vascular dystrophy		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16380913 PMID:17576681 PMID:20177705 More... NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 ClinVar PMID:10712197 PMID:25741868 PMID:28492532 PMID:31766501 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      Bardet-Biedl syndrome 236
        Bardet-Biedl syndrome 9 2
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          monogenic disease 10925
            autosomal genetic disease 10412
              autosomal recessive disease 6971
                Bardet-Biedl syndrome 236
                  Bardet-Biedl syndrome 9 2
paths to the root