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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: CAMTA1-RELATED CONDITION;   CANPMR;   CECBA;   CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES;   NONPROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY
 primary_id: OMIM:614756


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nonprogressive cerebellar ataxia with mental retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aadacl3 arylacetamide deacetylase-like 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:156,242,182...156,252,215
Ensembl chr 5:156,243,415...156,252,205 		JBrowse link
G Aadacl4 arylacetamide deacetylase-like 4 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:156,514,021...156,524,567
Ensembl chr 5:156,513,753...156,524,695 		JBrowse link
G Camta1 calmodulin binding transcription activator 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CAMTA1-related condition | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities		 OMIM
CTD
ClinVar		 PMID:22693284 PMID:24738973 PMID:25326637 PMID:25741868 PMID:28492532 More... NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723 		JBrowse link
G Cfap107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:156,212,385...156,231,481
Ensembl chr 5:156,212,385...156,231,481 		JBrowse link
G Dhrs3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:156,747,939...156,782,420
Ensembl chr 5:156,747,962...156,782,417 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:158,292,510...158,299,533
Ensembl chr 5:158,292,511...158,299,694 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Smyd3 SET and MYND domain containing 3 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr13:90,709,263...91,266,209
Ensembl chr13:90,709,270...91,266,253 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities ClinVar PMID:25741868 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          nonprogressive cerebellar ataxia with mental retardation 16
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            movement disease 2576
              Dyskinesias 2190
                Ataxia 957
                  Spinocerebellar Ataxias 547
                    cerebellar ataxia 471
                      autosomal dominant cerebellar ataxia 87
                        nonprogressive cerebellar ataxia with mental retardation 16
paths to the root