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ONTOLOGY REPORT - ANNOTATIONS


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 Adcy9 adenylate cyclase 9 JBrowse link 10 11,392,698 11,515,406 RGD:8554872
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 JBrowse link 10 10,808,780 10,829,507 RGD:8554872
G Cdip1 cell death-inducing p53 target 1 JBrowse link 10 10,966,819 10,989,937 RGD:8554872
G Coro7 coronin 7 JBrowse link 10 11,090,200 11,144,289 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 JBrowse link 10 11,059,701 11,085,186 RGD:8554872
G Glis2 GLIS family zinc finger 2 JBrowse link 10 11,154,459 11,177,063 RGD:8554872
G Hmox2 heme oxygenase 2 JBrowse link 10 10,990,034 11,035,493 RGD:8554872
G LOC100361104 CG10869-like JBrowse link 10 10,897,269 10,944,328 RGD:8554872
G LOC360479 similar to hypothetical protein JBrowse link 10 10,794,441 10,808,665 RGD:8554872
G Mgrn1 mahogunin ring finger 1 JBrowse link 10 10,832,573 10,881,999 RGD:8554872
G Nmral1 NmrA like redox sensor 1 JBrowse link 10 11,045,924 11,055,154 RGD:8554872
G Nudt16l1 nudix hydrolase 16 like 1 JBrowse link 10 10,829,866 10,831,782 RGD:8554872
G Pam16 presequence translocase associated motor 16 JBrowse link 10 11,146,359 11,153,936 RGD:8554872
G Rogdi rogdi atypical leucine zipper JBrowse link 10 10,761,477 10,766,096 RGD:7240710
RGD:8554872
G Septin12 septin 12 JBrowse link 10 10,774,702 10,784,276 RGD:8554872
G Smim22 small integral membrane protein 22 JBrowse link 10 10,766,208 10,768,044 RGD:8554872
G Srl sarcalumenin JBrowse link 10 11,240,135 11,284,325 RGD:8554872
G Tfap4 transcription factor AP-4 JBrowse link 10 11,204,616 11,222,975 RGD:8554872
G Ubald1 UBA-like domain containing 1 JBrowse link 10 10,889,435 10,894,200 RGD:8554872
G Vasn vasorin JBrowse link 10 11,121,041 11,131,548 RGD:8554872

Term paths to the root
Path 1
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  disease 15984
    syndrome 6094
      Kohlschutter-Tonz syndrome 21
Path 2
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  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        sensory system disease 4970
          mouth disease 719
            tooth disease 270
              Tooth Abnormalities 139
                dental enamel hypoplasia 54
                  amelogenesis imperfecta 52
                    Kohlschutter-Tonz syndrome 21
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.