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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
 xref: NCI:C148259


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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 IAGP
ISO
EXP
ISS		 DNA:mutations:exon, intron:multiple
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)
ClinVar Annotator: match by term: Joubert syndrome 3
CTD Direct Evidence: marker/mechanism
OMIM:608629		 ClinVar
OMIM
CTD
MouseDO
RGD		 PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 More... RGD:1598905, RGD:11537346, RGD:1304518, RGD:11537387, RGD:11343130, RGD:11537388, RGD:11537390, RGD:11537395 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More... NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      eye disease 4942
        ocular motility disease 343
          Joubert syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            cranial nerve disease 882
              ocular motility disease 343
                Joubert syndrome 3 3
paths to the root