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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:0081276 term browser browse the term
Definition:A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CAVIPMR;   EMC1-RELATED DISORDER
 primary_id: OMIM:616875
 alt_id: DOID:9001428
 xref: ORDO:480898


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:23105016 PMID:25741868 PMID:26572623 PMID:26942288 More... NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      cerebellar atrophy, visual impairment, and psychomotor retardation 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            cerebellar disease 1134
              primary cerebellar degeneration 582
                cerebellar atrophy, visual impairment, and psychomotor retardation 1
paths to the root