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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:ITM2B-related cerebral amyloid angiopathy 2
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Accession:DOID:0070030 term browser browse the term
Definition:A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. (DO)
Synonyms:exact_synonym: FDD;   HOOE;   cerebellar ataxia, cataract, deafness, and dementia or psychosis;   familial Danish dementia;   heredopathia ophthalmootoencephalica
 primary_id: MESH:C538209
 alt_id: MIM:117300;   RDO:0004153


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ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Diseases of the Aged 1475
      dementia 876
        ITM2B-related cerebral amyloid angiopathy 2 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            movement disease 2626
              Dyskinesias 2228
                Ataxia 952
                  Spinocerebellar Ataxias 555
                    cerebellar ataxia 480
                      ITM2B-related cerebral amyloid angiopathy 2 1
paths to the root