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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 1
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Accession:DOID:0070029 term browser browse the term
Definition:A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. (DO)
Synonyms:exact_synonym: FBD;   cerebral amyloid angiopathy, British type;   familial British dementia;   presenile dementia with spastic ataxia
 primary_id: MESH:C538208
 alt_id: OMIM:176500
 xref: GARD:8344


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ITM2B-related cerebral amyloid angiopathy 1 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: Presenile dementia with spastic ataxia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:10391242 PMID:21610757 PMID:25741868 PMID:28492532 PMID:31719132 More... RGD:1358403 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 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          cerebral amyloid angiopathy 11
            ITM2B-related cerebral amyloid angiopathy 1 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            cerebrovascular disease 1000
              intracranial arterial disease 326
                cerebral arterial disease 249
                  cerebral amyloid angiopathy 11
                    CST3-related cerebral amyloid angiopathy 3
                      ITM2B-related cerebral amyloid angiopathy 1 1
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