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ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert syndrome 3
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Accession:DOID:0110998 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. (DO)
Synonyms:exact_synonym: JBTS3
 primary_id: MESH:C536295
 alt_id: OMIM:608629;   RDO:0001820
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Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:1598905
RGD:7240710
RGD:8554872
RGD:11537346
RGD:1304518
RGD:11537387
RGD:11343130
RGD:11537388
RGD:11537390
RGD:11537395

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    sensory system disease 4769
      eye disease 2338
        ocular motility disease 114
          Joubert syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            ciliopathy 206
              Joubert syndrome 56
                Joubert syndrome 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.