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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 IAGP ClinVar Annotator: match by term: Meckel syndrome, type 10 ClinVar
OMIM
PMID:21763481, PMID:25741868, PMID:28492532 NCBI chr19:41,354,417...41,364,534
Ensembl chr19:41,354,417...41,364,165
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    syndrome 7887
      ciliopathy 266
        Meckel syndrome 34
          Meckel Syndrome, Type 10 1
Path 2
Term Annotations click to browse term
  disease 18864
    Developmental Diseases 12169
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10001
        genetic disease 9471
          monogenic disease 6932
            ciliopathy 266
              Joubert syndrome 82
                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.