ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert Syndrome 2
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Accession:DOID:0110988 term browser browse the term
Definition:A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. (DO)
Synonyms:exact_synonym: CORS2;   Cerebellooculorenal syndrome 2;   JBTS2
 primary_id: MESH:C536294
 alt_id: OMIM:608091;   RDO:0001819
 xref: GARD:10167
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Joubert Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11561919

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      ciliopathy 192
        Joubert syndrome 59
          Joubert Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              Eye Abnormalities 283
                Joubert Syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.