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Joubert syndrome 3 - Ontology Report - Rat Genome Database

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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: AHI1-RELATED CONDITION;   JBTS3
 primary_id: MESH:C536295
 alt_id: MIM: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 ISO
IMP
IAGP 		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)
OMIM:608629
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AHI1-related condition | ClinVar Annotator: match by term: Joubert syndrome 3 		OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:3196484 PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 More... RGD:1598905, RGD:11537346, RGD:1304518, RGD:11537387, RGD:11343130, RGD:11537388, RGD:11537390, RGD:11537395 NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Joubert syndrome 3 ClinVar PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 More... NCBI chr 3:18,126,108...18,298,054
Ensembl chr 3:18,126,114...18,297,502 		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 chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    sensory system disease 7186
      eye disease 3726
        ocular motility disease 272
          Joubert syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15863
      nervous system disease 13797
        peripheral nervous system disease 4417
          neuropathy 4217
            cranial nerve disease 854
              ocular motility disease 272
                Joubert syndrome 3 3
paths to the root