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Term:Kohlschutter-Tonz syndrome
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Accession:DOID:0111668 term browser browse the term
Definition:A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: Epilepsy dementia amelogenesis imperfecta;   Epilepsy, Dementia, And Amelogenesis Imperfecta;   KTZS;   Kohlschutter syndrome;   Kohlschutter's syndrome;   amelocerebrohypohidrotic syndrome;   epilepsy and yellow teeth;   epilepsy-dementia-amelogenesis imperfecta syndrome
 primary_id: MESH:C537213
 alt_id: OMIM:226750
 xref: GARD:3128;   ORDO:1946
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Kohlschutter-Tonz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rogdi rogdi atypical leucine zipper JBrowse link 10 10,761,477 10,766,096 RGD:7240710

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Path 1
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  disease 15609
    syndrome 5791
      Kohlschutter-Tonz syndrome 1
Path 2
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  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        sensory system disease 4769
          mouth disease 689
            tooth disease 245
              Tooth Abnormalities 116
                dental enamel hypoplasia 31
                  amelogenesis imperfecta 29
                    Kohlschutter-Tonz syndrome 1
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