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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:Joubert syndrome 3
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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: OMIM:608629;   RDO:0001820
For additional species annotation, visit the Alliance of Genome Resources.

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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 DNA:missense mutation, nonsense mutations:exon:multiple
ClinVar Annotator: match by OMIM:608629
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)
ClinVar Annotator: match by term: Joubert syndrome 3		 OMIM
ClinVar		 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16240161 PMID:16453322 PMID:17409309 PMID:18054307 PMID:18414213 PMID:21068128 PMID:21623382 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:23532844 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25445212 PMID:25525159 PMID:25558065 PMID:25616960 PMID:25741868 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:28041643 PMID:28431631 PMID:28442542 PMID:28492532 PMID:32165824, PMID:16155189, PMID:18054307, PMID:15467982, PMID:16453322, PMID:26541515, PMID:15322546, PMID:21623382, PMID:18268248 RGD:1598905, RGD:11537346, RGD:1304518, RGD:11537387, RGD:11343130, RGD:11537388, RGD:11537390, RGD:11537395 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769 		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 PMID:28492532 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      eye disease 2591
        ocular motility disease 129
          Joubert syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            ciliopathy 237
              Joubert syndrome 78
                Joubert syndrome 3 2
paths to the root