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Term:Joubert syndrome 14
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Accession:DOID:0110983 term browser browse the term
Definition:A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: JBTS14
 primary_id: OMIM:614424;   RDO:9000485
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Joubert syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2cd6 C2 calcium dependent domain containing 6 JBrowse link 9 65,817,039 65,879,564 RGD:8554872
G Mpp4 membrane palmitoylated protein 4 JBrowse link 9 65,917,917 65,961,274 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:7240710

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  disease 16022
    syndrome 6143
      ciliopathy 224
        Joubert syndrome 69
          Joubert syndrome 14 3
Path 2
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  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Joubert syndrome 14 3
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