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 9
Accession: DOID:0111004
browse the term
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. (DO)
Synonyms: exact_synonym: JBTS9
narrow_synonym: JOUBERT SYNDROME 9/15, DIGENIC
broad_synonym: CC2D2A-RELATED DISORDER
primary_id: MESH:C567364
alt_id: OMIM:612285
xref: NCI:C181002
For additional species annotation, visit the
Alliance of Genome Resources .
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Cav3
caveolin 3
ISO
ClinVar Annotator: match by term: Joubert syndrome 9
ClinVar
NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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Cc2d2a
coiled-coil and C2 domain containing 2A
no_association
ISO
DNA:mutations: :multiple DNA:splice-site mutation:intron:IVS19+1G>C (human) ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
OMIM ClinVar RGD
PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18387594 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:24033266 PMID:24706459 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28125082 PMID:28492532 PMID:29165578 PMID:29620724 PMID:32488064 PMID:34906502 PMID:22241855 PMID:22241855 PMID:19068953 More...
RGD:11062645 , RGD:11062645 , RGD:11535976
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep41
centrosomal protein 41
ISO
ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
ClinVar
PMID:20301500 PMID:22246503 PMID:25741868 PMID:28492532 PMID:30664616
NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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Oxtr
oxytocin receptor
ISO
ClinVar Annotator: match by term: Joubert syndrome 9
ClinVar
NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
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Rpe65
retinoid isomerohydrolase RPE65
ISO
ClinVar Annotator: match by term: Joubert syndrome 9
ClinVar
PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 PMID:28492532 More...
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Joubert syndrome 9
ClinVar
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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