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
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 Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1); Cerebellar Hypoplasia and Mental Retardation with Or without Quadrupedal Locomotion; DES; Des-Vldlr; 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
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 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
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