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:Joubert syndrome 3
go back to main search page
Accession:DOID:0110998 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. (DO)
Synonyms:exact_synonym: JBTS3
 primary_id: MESH:C536295
 alt_id: MIM:608629
 xref: NCI:C148259


show annotations for term's descendants           Sort by:
Joubert syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO
ISS		 DNA:missense mutation, nonsense mutations:exon:multiple
DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)
DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple
DNA:nonsense mutation:cds:c.910dup (human)
DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)
DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)
CTD Direct Evidence: marker/mechanism
OMIM:608629
ClinVar Annotator: match by term: Joubert syndrome 3		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 PMID:16240161 More... RGD:1598905, RGD:11537346, RGD:1304518, RGD:11537387, RGD:11343130, RGD:11537388, RGD:11537390, RGD:11537395 NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    sensory system disease 7255
      eye disease 3731
        ocular motility disease 249
          Joubert syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        peripheral nervous system disease 4263
          neuropathy 4049
            cranial nerve disease 694
              ocular motility disease 249
                Joubert syndrome 3 3
paths to the root