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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 Atrophy, Visual Impairment, and Psychomotor Retardation
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Accession:DOID:9001428 term browser browse the term
Synonyms:exact_synonym: CAVIPMR;   EMC1-RELATED DISORDER
 primary_id: OMIM:616875;   RDO:9001165
For additional species annotation, visit the Alliance of Genome Resources.



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Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder OMIM
ClinVar
PMID:25741868 PMID:26942288 PMID:27657687 PMID:28492532 PMID:30577886 More... NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        Vision Disorders 263
          Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            cerebellar disease 768
              primary cerebellar degeneration 379
                Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 1
paths to the root