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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: OMIM: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 OMIM
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr 3:26,149,429...26,178,172
Ensembl chr 3:26,149,379...26,177,622 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    Diseases of the Aged 1212
      dementia 817
        ITM2B-related cerebral amyloid angiopathy 2 1
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      nervous system disease 13000
        central nervous system disease 11626
          brain disease 10914
            movement disease 2463
              Dyskinesias 2101
                Ataxia 931
                  Spinocerebellar Ataxias 541
                    cerebellar ataxia 466
                      ITM2B-related cerebral amyloid angiopathy 2 1
paths to the root