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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 cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. (DO)
Synonyms:exact_synonym: CANPMR
 primary_id: OMIM:614756
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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 16022
    Developmental Diseases 9336
      Neurodevelopmental Disorders 4302
        intellectual disability 1940
          nonprogressive cerebellar ataxia with mental retardation 16
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            movement disease 1068
              Dyskinesias 778
                Ataxia 333
                  Spinocerebellar Ataxias 221
                    cerebellar ataxia 186
                      autosomal dominant cerebellar ataxia 82
                        nonprogressive cerebellar ataxia with mental retardation 16
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.