ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872

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  disease 14926
    syndrome 4715
      ciliopathy 193
        Joubert syndrome 60
          Joubert syndrome 14 3
Path 2
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  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            disease of mental health 4348
              developmental disorder of mental health 2603
                specific developmental disorder 1767
                  intellectual disability 1596
                    Joubert syndrome 14 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.