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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:cerebellar ataxia, mental retardation and dysequlibrium syndrome
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Accession:DOID:0050997 term browser browse the term
Definition:An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO)
Synonyms:exact_synonym: CAMRQ;   Cerebellar Hypoplasia and Mental Retardation with Or without Quadrupedal Locomotion;   DES;   Des-Vldlr;   Uner Tan syndrome;   VLDLR Cerebellar Hypoplasia;   VLDLR-CH;   VLDLR-associated cerebellar hypoplasia;   VLDLRCH;   autosomal recessive cerebellar ataxia with mental retardation;   autosomal recessive cerebellar hypoplasia with cerebral gyral simplification;   congenital cerebellar ataxia and mental retardation, autosomal recessive;   dysequilibrium syndrome;   dysequilibrium syndrome-VLDLR;   nonprogressive cerebellar disorder with mental retardation
 primary_id: MESH:C535731
 alt_id: OMIA:001947
 xref: GARD:1998;   OMIM:PS224050
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase phospholipid transporting 8A2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysequilibrium syndrome		 CTD
ClinVar		 PMID:25741868 NCBI chr15:33,817,309...34,350,193
Ensembl chr15:33,819,755...34,350,223 		JBrowse link
G Ca8 carbonic anhydrase 8 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by OMIM:224050
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1		 ClinVar
CTD		 PMID:18326629 PMID:18364738 PMID:25741868 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Wdr81 WD repeat domain 81 ISS OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 MouseDO NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1		 ClinVar
OMIM		 PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 More... NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by OMIM:610185
ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2		 OMIM
ClinVar		 PMID:16371500 PMID:21885617 PMID:25741868 PMID:26437881 PMID:28492532 NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca8 carbonic anhydrase 8 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
ClinVar Annotator: match by OMIM:613227		 OMIM
ClinVar		 PMID:19461874 PMID:21937992 PMID:25741868 NCBI chr 5:21,302,940...21,402,395
Ensembl chr 5:21,305,383...21,402,374 		JBrowse link
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase phospholipid transporting 8A2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
ClinVar Annotator: match by OMIM:615268		 OMIM
ClinVar		 PMID:18326629 PMID:22892528 PMID:25741868 PMID:28492532 NCBI chr15:33,817,309...34,350,193
Ensembl chr15:33,819,755...34,350,223 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      cerebellar ataxia, mental retardation and dysequlibrium syndrome 4
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 1
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 1
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 1
        Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                Ataxia 510
                  Spinocerebellar Ataxias 351
                    cerebellar ataxia 282
                      autosomal recessive cerebellar ataxia 156
                        cerebellar ataxia, mental retardation and dysequlibrium syndrome 4
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 1
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 1
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 1
                          Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 1
paths to the root