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ONTOLOGY REPORT - ANNOTATIONS


Term:nonprogressive cerebellar ataxia with mental retardation
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Accession:DOID:0050998 term browser browse the term
Definition:An autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life.
Synonyms:exact_synonym: CANPMR
 primary_id: OMIM:614756
 alt_id: RDO:9000223
For additional species annotation, visit the Alliance of Genome Resources.


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nonprogressive cerebellar ataxia with mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadacl3 arylacetamide deacetylase-like 3 JBrowse link 5 162,323,373 162,332,014 RGD:8554872
G Aadacl4 arylacetamide deacetylase-like 4 JBrowse link 5 162,676,109 162,688,907 RGD:8554872
G Camta1 calmodulin binding transcription activator 1 JBrowse link 5 168,138,207 169,017,295 RGD:7240710
RGD:8554872
G Dhrs3 dehydrogenase/reductase 3 JBrowse link 5 162,809,090 162,843,385 RGD:8554872
G LOC691162 hypothetical protein LOC691162 JBrowse link 5 162,351,021 162,369,987 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Miip migration and invasion inhibitory protein JBrowse link 5 164,672,464 164,679,503 RGD:8554872
G Nid1 nidogen 1 JBrowse link 17 90,553,161 90,627,133 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Pramef12 PRAME family member 12 JBrowse link 5 162,378,442 162,388,786 RGD:8554872
G Prdm16 PR/SET domain 16 JBrowse link 5 171,662,277 171,711,561 RGD:8554872
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:8554872
G Smyd3 SET and MYND domain containing 3 JBrowse link 13 97,330,120 97,807,813 RGD:8554872
G Tnfrsf1b TNF receptor superfamily member 1B JBrowse link 5 163,136,390 163,167,299 RGD:8554872
G Tnfrsf8 TNF receptor superfamily member 8 JBrowse link 5 163,186,349 163,231,578 RGD:8554872
G Vps13d vacuolar protein sorting 13 homolog D JBrowse link 5 162,891,451 163,119,239 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          nonprogressive cerebellar ataxia with mental retardation 16
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            movement disease 989
              Dyskinesias 702
                Ataxia 300
                  Spinocerebellar Ataxias 200
                    cerebellar ataxia 173
                      nonprogressive cerebellar ataxia with mental retardation 16
paths to the root