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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, Type 10
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Accession:DOID:9004364 term browser browse the term
Synonyms:exact_synonym: MKS10
 narrow_synonym: JBTS34;   Joubert syndrome 34
 primary_id: OMIM:614175
For additional species annotation, visit the Alliance of Genome Resources.


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Meckel Syndrome, Type 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 This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Meckel syndrome, type 10
OMIM
ClinVar
PMID:21763481, PMID:25741868, PMID:28492532 NCBI chr 1:82,473,254...82,479,704
Ensembl chr 1:82,473,737...82,479,900
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      ciliopathy 227
        Meckel syndrome 29
          Meckel Syndrome, Type 10 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            ciliopathy 227
              Joubert syndrome 70
                Meckel Syndrome, Type 10 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.