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
Accession: DOID:0110998
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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 .
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
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
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