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Joubert Syndrome 16 - 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 16
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Accession:DOID:0110985 term browser browse the term
Definition:A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. (DO)
Synonyms:exact_synonym: JBTS16;   TMEM138-RELATED CONDITION
 primary_id: MIM:614465

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Joubert Syndrome 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chrNW_004624926:847,402...852,721
Ensembl chrNW_004624926:847,745...850,718 		JBrowse link
G G TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chr 1:12,473,137...12,480,086
Ensembl chr 1:12,469,790...12,480,394 		JBrowse link
G P TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chr 2:10,134,866...10,143,049
Ensembl chr 2:10,131,633...10,143,038 		JBrowse link
G S Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chrNW_004936581:1,679,265...1,683,568
Ensembl chrNW_004936581:1,678,737...1,683,929 		JBrowse link
G D TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chr18:55,033,586...55,040,001
Ensembl chr18:55,033,589...55,039,325 		JBrowse link
G B TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chr11:56,661,892...56,677,503
Ensembl chr11:60,025,927...60,033,090 		JBrowse link
G C Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chrNW_004955511:6,185,533...6,191,294
Ensembl chrNW_004955511:6,185,533...6,191,289 		JBrowse link
G R Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chr 1:216,644,047...216,651,091 JBrowse link
G M Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chr19:10,547,842...10,554,765
Ensembl chr19:10,547,842...10,554,726 		JBrowse link
G H TMEM138 transmembrane protein 138 IAGP ClinVar Annotator: match by term: Joubert syndrome 16
ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282472 PMID:25741868 More... NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      ciliopathy 10416
        Joubert syndrome 4144
          Joubert Syndrome 16 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            ciliopathy 10416
              Joubert syndrome 4144
                Joubert Syndrome 16 10
paths to the root