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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 ITM2B 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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM:117300
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
OMIM
ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    Diseases of the Aged 1289
      dementia 712
        ITM2B-related cerebral amyloid angiopathy 2 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        central nervous system disease 10376
          brain disease 9740
            movement disease 1375
              Dyskinesias 1043
                Ataxia 482
                  hereditary ataxia 340
                    cerebellar ataxia 282
                      ITM2B-related cerebral amyloid angiopathy 2 1
paths to the root