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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:Meckel Syndrome 10
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Accession:DOID:9004364 term browser browse the term
Synonyms:exact_synonym: MKS10;   Meckel syndrome, type 10
 narrow_synonym: JBTS34;   Joubert syndrome 34
 primary_id: OMIM:614175


show annotations for term's descendants           Sort by:
Meckel Syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Joubert syndrome 34 | ClinVar Annotator: match by term: Meckel syndrome, type 10 OMIM
ClinVar		 PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Meckel syndrome, type 10 ClinVar PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More... NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      ciliopathy 1022
        Meckel syndrome 52
          Meckel Syndrome 10 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            ciliopathy 1022
              Joubert syndrome 414
                Meckel Syndrome 10 2
paths to the root